id category name description provided_by FlyBase:FBgn0000158 biolink:NamedThing bam (fruit fly) A protein coding gene bam in fruit fly. phenio_relaxed_subqs.owl SO:0001217 biolink:NamedThing protein_coding_gene A gene that codes for an RNA that can be translated into a protein. phenio_relaxed_subqs.owl FlyBase:FBgn0000261 biolink:NamedThing Cat (fruit fly) A protein coding gene Cat in fruit fly. phenio_relaxed_subqs.owl FlyBase:FBgn0000635 biolink:NamedThing Fas2 (fruit fly) A protein coding gene Fas2 in fruit fly. phenio_relaxed_subqs.owl FlyBase:FBgn0001208 biolink:NamedThing Hn (fruit fly) A protein coding gene Hn in fruit fly. phenio_relaxed_subqs.owl FlyBase:FBgn0001250 biolink:NamedThing if (fruit fly) A protein coding gene if in fruit fly. phenio_relaxed_subqs.owl FlyBase:FBgn0002673 biolink:NamedThing twe (fruit fly) A protein coding gene twe in fruit fly. phenio_relaxed_subqs.owl FlyBase:FBgn0002985 biolink:NamedThing odd (fruit fly) A protein coding gene odd in fruit fly. phenio_relaxed_subqs.owl FlyBase:FBgn0003074 biolink:NamedThing Pgi (fruit fly) A protein coding gene Pgi in fruit fly. phenio_relaxed_subqs.owl FlyBase:FBgn0003308 biolink:NamedThing ry (fruit fly) A protein coding gene ry in fruit fly. phenio_relaxed_subqs.owl FlyBase:FBgn0004057 biolink:NamedThing Zw (fruit fly) A protein coding gene Zw in fruit fly. phenio_relaxed_subqs.owl FlyBase:FBgn0004369 biolink:NamedThing Ptp99A (fruit fly) A protein coding gene Ptp99A in fruit fly. phenio_relaxed_subqs.owl FlyBase:FBgn0011723 biolink:NamedThing byn (fruit fly) A protein coding gene byn in fruit fly. phenio_relaxed_subqs.owl FlyBase:FBgn0031910 biolink:NamedThing CG15818 (fruit fly) A protein coding gene CG15818 in fruit fly. phenio_relaxed_subqs.owl FlyBase:FBgn0035147 biolink:NamedThing Gale (fruit fly) A protein coding gene Gale in fruit fly. phenio_relaxed_subqs.owl HGNC:1001 biolink:NamedThing BCL6 (human) A protein coding gene BCL6 in human. phenio_relaxed_subqs.owl HGNC:10260 biolink:NamedThing RORC (human) A protein coding gene RORC in human. phenio_relaxed_subqs.owl HGNC:1060 biolink:NamedThing CXCR5 (human) A protein coding gene CXCR5 in human. phenio_relaxed_subqs.owl HGNC:10658 biolink:NamedThing SDC1 (human) A protein coding gene SDC1 in human. phenio_relaxed_subqs.owl HGNC:10720 biolink:NamedThing SELL (human) A protein coding gene SELL in human. phenio_relaxed_subqs.owl HGNC:10848 biolink:NamedThing SHH (human) A protein coding gene SHH in human. phenio_relaxed_subqs.owl HGNC:10903 biolink:NamedThing SLAMF1 (human) A protein coding gene SLAMF1 in human. phenio_relaxed_subqs.owl HGNC:11127 biolink:NamedThing SIGLEC1 (human) A protein coding gene SIGLEC1 in human. phenio_relaxed_subqs.owl HGNC:11241 biolink:NamedThing SPI1 (human) A protein coding gene SPI1 in human. phenio_relaxed_subqs.owl HGNC:11249 biolink:NamedThing SPN (human) A protein coding gene SPN in human. phenio_relaxed_subqs.owl HGNC:11252 biolink:NamedThing SPON1 (human) A protein coding gene SPON1 in human. phenio_relaxed_subqs.owl HGNC:11329 biolink:NamedThing SST (human) A protein coding gene SST in human. phenio_relaxed_subqs.owl HGNC:11556 biolink:NamedThing TAL1 (human) A protein coding gene TAL1 in human. phenio_relaxed_subqs.owl HGNC:11599 biolink:NamedThing TBX21 (human) A protein coding gene TBX21 in human. phenio_relaxed_subqs.owl HGNC:11740 biolink:NamedThing TF (human) A protein coding gene TF in human. phenio_relaxed_subqs.owl HGNC:11756 biolink:NamedThing TFF2 (human) A protein coding gene TFF2 in human. phenio_relaxed_subqs.owl HGNC:11763 biolink:NamedThing TFRC (human) A protein coding gene TFRC in human. phenio_relaxed_subqs.owl HGNC:11801 biolink:NamedThing THY1 (human) A protein coding gene THY1 in human. phenio_relaxed_subqs.owl HGNC:11892 biolink:NamedThing TNF (human) A protein coding gene TNF in human. phenio_relaxed_subqs.owl HGNC:11908 biolink:NamedThing TNFRSF11A (human) A protein coding gene TNFRSF11A in human. phenio_relaxed_subqs.owl HGNC:11909 biolink:NamedThing TNFRSF11B (human) A protein coding gene TNFRSF11B in human. phenio_relaxed_subqs.owl HGNC:11922 biolink:NamedThing CD27 (human) A protein coding gene CD27 in human. phenio_relaxed_subqs.owl HGNC:11926 biolink:NamedThing TNFSF11 (human) A protein coding gene TNFSF11 in human. phenio_relaxed_subqs.owl HGNC:11935 biolink:NamedThing CD40LG (human) A protein coding gene CD40LG in human. phenio_relaxed_subqs.owl HGNC:124 biolink:NamedThing ACP5 (human) A protein coding gene ACP5 in human. phenio_relaxed_subqs.owl HGNC:12709 biolink:NamedThing VPREB1 (human) A protein coding gene VPREB1 in human. phenio_relaxed_subqs.owl HGNC:12726 biolink:NamedThing VWF (human) A protein coding gene VWF in human. phenio_relaxed_subqs.owl HGNC:12765 biolink:NamedThing FOXN1 (human) A protein coding gene FOXN1 in human. phenio_relaxed_subqs.owl HGNC:12805 biolink:NamedThing XDH (human) A protein coding gene XDH in human. phenio_relaxed_subqs.owl HGNC:13633 biolink:NamedThing ADIPOQ (human) A protein coding gene ADIPOQ in human. phenio_relaxed_subqs.owl HGNC:1437 biolink:NamedThing CALCA (human) A protein coding gene CALCA in human. phenio_relaxed_subqs.owl HGNC:14558 biolink:NamedThing CLEC7A (human) A protein coding gene CLEC7A in human. phenio_relaxed_subqs.owl HGNC:1516 biolink:NamedThing CAT (human) A protein coding gene CAT in human. phenio_relaxed_subqs.owl HGNC:15488 biolink:NamedThing IL23A (human) A protein coding gene IL23A in human. phenio_relaxed_subqs.owl HGNC:15855 biolink:NamedThing CD93 (human) A protein coding gene CD93 in human. phenio_relaxed_subqs.owl HGNC:1602 biolink:NamedThing CCR1 (human) A protein coding gene CCR1 in human. phenio_relaxed_subqs.owl HGNC:1603 biolink:NamedThing CCR2 (human) A protein coding gene CCR2 in human. phenio_relaxed_subqs.owl HGNC:1604 biolink:NamedThing CCR3 (human) A protein coding gene CCR3 in human. phenio_relaxed_subqs.owl HGNC:1606 biolink:NamedThing CCR5 (human) A protein coding gene CCR5 in human. phenio_relaxed_subqs.owl HGNC:1607 biolink:NamedThing CCR6 (human) A protein coding gene CCR6 in human. phenio_relaxed_subqs.owl HGNC:1608 biolink:NamedThing CCR7 (human) A protein coding gene CCR7 in human. phenio_relaxed_subqs.owl HGNC:1628 biolink:NamedThing CD14 (human) A protein coding gene CD14 in human. phenio_relaxed_subqs.owl HGNC:1631 biolink:NamedThing CD163 (human) A protein coding gene CD163 in human. phenio_relaxed_subqs.owl HGNC:1633 biolink:NamedThing CD19 (human) A protein coding gene CD19 in human. phenio_relaxed_subqs.owl HGNC:1639 biolink:NamedThing CD2 (human) A protein coding gene CD2 in human. phenio_relaxed_subqs.owl HGNC:1643 biolink:NamedThing CD22 (human) A protein coding gene CD22 in human. phenio_relaxed_subqs.owl HGNC:1645 biolink:NamedThing CD24 (human) A protein coding gene CD24 in human. phenio_relaxed_subqs.owl HGNC:1659 biolink:NamedThing CD33 (human) A protein coding gene CD33 in human. phenio_relaxed_subqs.owl HGNC:1662 biolink:NamedThing CD34 (human) A protein coding gene CD34 in human. phenio_relaxed_subqs.owl HGNC:1667 biolink:NamedThing CD38 (human) A protein coding gene CD38 in human. phenio_relaxed_subqs.owl HGNC:1674 biolink:NamedThing CD3E (human) A protein coding gene CD3E in human. phenio_relaxed_subqs.owl HGNC:1678 biolink:NamedThing CD4 (human) A protein coding gene CD4 in human. phenio_relaxed_subqs.owl HGNC:1681 biolink:NamedThing CD44 (human) A protein coding gene CD44 in human. phenio_relaxed_subqs.owl HGNC:1683 biolink:NamedThing CD48 (human) A protein coding gene CD48 in human. phenio_relaxed_subqs.owl HGNC:1685 biolink:NamedThing CD5 (human) A protein coding gene CD5 in human. phenio_relaxed_subqs.owl HGNC:1693 biolink:NamedThing CD68 (human) A protein coding gene CD68 in human. phenio_relaxed_subqs.owl HGNC:1694 biolink:NamedThing CD69 (human) A protein coding gene CD69 in human. phenio_relaxed_subqs.owl HGNC:1695 biolink:NamedThing CD7 (human) A protein coding gene CD7 in human. phenio_relaxed_subqs.owl HGNC:1706 biolink:NamedThing CD8A (human) A protein coding gene CD8A in human. phenio_relaxed_subqs.owl HGNC:1707 biolink:NamedThing CD8B (human) A protein coding gene CD8B in human. phenio_relaxed_subqs.owl HGNC:1709 biolink:NamedThing CD9 (human) A protein coding gene CD9 in human. phenio_relaxed_subqs.owl HGNC:17291 biolink:NamedThing TMED1 (human) A protein coding gene TMED1 in human. phenio_relaxed_subqs.owl HGNC:1764 biolink:NamedThing CDH5 (human) A protein coding gene CDH5 in human. phenio_relaxed_subqs.owl HGNC:17935 biolink:NamedThing CD207 (human) A protein coding gene CD207 in human. phenio_relaxed_subqs.owl HGNC:18149 biolink:NamedThing A4GALT (human) A protein coding gene A4GALT in human. phenio_relaxed_subqs.owl HGNC:18171 biolink:NamedThing CD244 (human) A protein coding gene CD244 in human. phenio_relaxed_subqs.owl HGNC:1820 biolink:NamedThing CEACAM8 (human) A protein coding gene CEACAM8 in human. phenio_relaxed_subqs.owl HGNC:1833 biolink:NamedThing CEBPA (human) A protein coding gene CEBPA in human. phenio_relaxed_subqs.owl HGNC:20510 biolink:NamedThing HIST4H4 (human) A protein coding gene HIST4H4 in human. phenio_relaxed_subqs.owl HGNC:21998 biolink:NamedThing SSPO (human) A protein coding gene SSPO in human. phenio_relaxed_subqs.owl HGNC:2227 biolink:NamedThing COMP (human) A protein coding gene COMP in human. phenio_relaxed_subqs.owl HGNC:2295 biolink:NamedThing CP (human) A protein coding gene CP in human. phenio_relaxed_subqs.owl HGNC:2336 biolink:NamedThing CR2 (human) A protein coding gene CR2 in human. phenio_relaxed_subqs.owl HGNC:2355 biolink:NamedThing CRH (human) A protein coding gene CRH in human. phenio_relaxed_subqs.owl HGNC:2367 biolink:NamedThing CRP (human) A protein coding gene CRP in human. phenio_relaxed_subqs.owl HGNC:2433 biolink:NamedThing CSF1R (human) A protein coding gene CSF1R in human. phenio_relaxed_subqs.owl HGNC:2536 biolink:NamedThing CTSK (human) A protein coding gene CTSK in human. phenio_relaxed_subqs.owl HGNC:2558 biolink:NamedThing CX3CR1 (human) A protein coding gene CX3CR1 in human. phenio_relaxed_subqs.owl HGNC:2561 biolink:NamedThing CXCR4 (human) A protein coding gene CXCR4 in human. phenio_relaxed_subqs.owl HGNC:29607 biolink:NamedThing HIST2H4B (human) A protein coding gene HIST2H4B in human. phenio_relaxed_subqs.owl HGNC:2983 biolink:NamedThing DNTT (human) A protein coding gene DNTT in human. phenio_relaxed_subqs.owl HGNC:3012 biolink:NamedThing DPYD (human) A protein coding gene DPYD in human. phenio_relaxed_subqs.owl HGNC:317 biolink:NamedThing AFP (human) A protein coding gene AFP in human. phenio_relaxed_subqs.owl HGNC:3239 biolink:NamedThing EGR2 (human) A protein coding gene EGR2 in human. phenio_relaxed_subqs.owl HGNC:3327 biolink:NamedThing ELN (human) A protein coding gene ELN in human. phenio_relaxed_subqs.owl HGNC:333 biolink:NamedThing AGT (human) A protein coding gene AGT in human. phenio_relaxed_subqs.owl HGNC:3336 biolink:NamedThing ADGRE1 (human) A protein coding gene ADGRE1 in human. phenio_relaxed_subqs.owl HGNC:3349 biolink:NamedThing ENG (human) A protein coding gene ENG in human. phenio_relaxed_subqs.owl HGNC:3355 biolink:NamedThing ENPEP (human) A protein coding gene ENPEP in human. phenio_relaxed_subqs.owl HGNC:3358 biolink:NamedThing ENPP3 (human) A protein coding gene ENPP3 in human. phenio_relaxed_subqs.owl HGNC:3415 biolink:NamedThing EPO (human) A protein coding gene EPO in human. phenio_relaxed_subqs.owl HGNC:3609 biolink:NamedThing FCER1A (human) A protein coding gene FCER1A in human. phenio_relaxed_subqs.owl HGNC:3612 biolink:NamedThing FCER2 (human) A protein coding gene FCER2 in human. phenio_relaxed_subqs.owl HGNC:3618 biolink:NamedThing FCGR2B (human) A protein coding gene FCGR2B in human. phenio_relaxed_subqs.owl HGNC:3686 biolink:NamedThing FGF8 (human) A protein coding gene FGF8 in human. phenio_relaxed_subqs.owl HGNC:3765 biolink:NamedThing FLT3 (human) A protein coding gene FLT3 in human. phenio_relaxed_subqs.owl HGNC:3796 biolink:NamedThing FOS (human) A protein coding gene FOS in human. phenio_relaxed_subqs.owl HGNC:399 biolink:NamedThing ALB (human) A protein coding gene ALB in human. phenio_relaxed_subqs.owl HGNC:4057 biolink:NamedThing G6PD (human) A protein coding gene G6PD in human. phenio_relaxed_subqs.owl HGNC:4092 biolink:NamedThing GAD1 (human) A protein coding gene GAD1 in human. phenio_relaxed_subqs.owl HGNC:4116 biolink:NamedThing GALE (human) A protein coding gene GALE in human. phenio_relaxed_subqs.owl HGNC:4164 biolink:NamedThing GAST (human) A protein coding gene GAST in human. phenio_relaxed_subqs.owl HGNC:4170 biolink:NamedThing GATA1 (human) A protein coding gene GATA1 in human. phenio_relaxed_subqs.owl HGNC:4171 biolink:NamedThing GATA2 (human) A protein coding gene GATA2 in human. phenio_relaxed_subqs.owl HGNC:4172 biolink:NamedThing GATA3 (human) A protein coding gene GATA3 in human. phenio_relaxed_subqs.owl HGNC:4191 biolink:NamedThing GCG (human) A protein coding gene GCG in human. phenio_relaxed_subqs.owl HGNC:4235 biolink:NamedThing GFAP (human) A protein coding gene GFAP in human. phenio_relaxed_subqs.owl HGNC:4268 biolink:NamedThing CBLIF (human) A protein coding gene CBLIF in human. phenio_relaxed_subqs.owl HGNC:4335 biolink:NamedThing GLUD1 (human) A protein coding gene GLUD1 in human. phenio_relaxed_subqs.owl HGNC:437 biolink:NamedThing ALPI (human) A protein coding gene ALPI in human. phenio_relaxed_subqs.owl HGNC:438 biolink:NamedThing ALPL (human) A protein coding gene ALPL in human. phenio_relaxed_subqs.owl HGNC:439 biolink:NamedThing ALPP (human) A protein coding gene ALPP in human. phenio_relaxed_subqs.owl HGNC:441 biolink:NamedThing ALPG (human) A protein coding gene ALPG in human. phenio_relaxed_subqs.owl HGNC:4432 biolink:NamedThing GOT1 (human) A protein coding gene GOT1 in human. phenio_relaxed_subqs.owl HGNC:4433 biolink:NamedThing GOT2 (human) A protein coding gene GOT2 in human. phenio_relaxed_subqs.owl HGNC:4458 biolink:NamedThing GPI (human) A protein coding gene GPI in human. phenio_relaxed_subqs.owl HGNC:4540 biolink:NamedThing CXCR3 (human) A protein coding gene CXCR3 in human. phenio_relaxed_subqs.owl HGNC:4552 biolink:NamedThing GPT (human) A protein coding gene GPT in human. phenio_relaxed_subqs.owl HGNC:4702 biolink:NamedThing GYPA (human) A protein coding gene GYPA in human. phenio_relaxed_subqs.owl HGNC:4709 biolink:NamedThing GZMB (human) A protein coding gene GZMB in human. phenio_relaxed_subqs.owl HGNC:4781 biolink:NamedThing HIST1H4A (human) A protein coding gene HIST1H4A in human. phenio_relaxed_subqs.owl HGNC:4782 biolink:NamedThing HIST1H4D (human) A protein coding gene HIST1H4D in human. phenio_relaxed_subqs.owl HGNC:4783 biolink:NamedThing HIST1H4F (human) A protein coding gene HIST1H4F in human. phenio_relaxed_subqs.owl HGNC:4784 biolink:NamedThing HIST1H4K (human) A protein coding gene HIST1H4K in human. phenio_relaxed_subqs.owl HGNC:4785 biolink:NamedThing HIST1H4J (human) A protein coding gene HIST1H4J in human. phenio_relaxed_subqs.owl HGNC:4787 biolink:NamedThing HIST1H4C (human) A protein coding gene HIST1H4C in human. phenio_relaxed_subqs.owl HGNC:4788 biolink:NamedThing HIST1H4H (human) A protein coding gene HIST1H4H in human. phenio_relaxed_subqs.owl HGNC:4789 biolink:NamedThing HIST1H4B (human) A protein coding gene HIST1H4B in human. phenio_relaxed_subqs.owl HGNC:4790 biolink:NamedThing HIST1H4E (human) A protein coding gene HIST1H4E in human. phenio_relaxed_subqs.owl HGNC:4791 biolink:NamedThing HIST1H4L (human) A protein coding gene HIST1H4L in human. phenio_relaxed_subqs.owl HGNC:4793 biolink:NamedThing HIST1H4I (human) A protein coding gene HIST1H4I in human. phenio_relaxed_subqs.owl HGNC:4794 biolink:NamedThing HIST2H4A (human) A protein coding gene HIST2H4A in human. phenio_relaxed_subqs.owl HGNC:4835 biolink:NamedThing HBZ (human) A protein coding gene HBZ in human. phenio_relaxed_subqs.owl HGNC:5147 biolink:NamedThing HPD (human) A protein coding gene HPD in human. phenio_relaxed_subqs.owl HGNC:5351 biolink:NamedThing ICOS (human) A protein coding gene ICOS in human. phenio_relaxed_subqs.owl HGNC:5389 biolink:NamedThing IDS (human) A protein coding gene IDS in human. phenio_relaxed_subqs.owl HGNC:5434 biolink:NamedThing IFNB1 (human) A protein coding gene IFNB1 in human. phenio_relaxed_subqs.owl HGNC:5438 biolink:NamedThing IFNG (human) A protein coding gene IFNG in human. phenio_relaxed_subqs.owl HGNC:5464 biolink:NamedThing IGF1 (human) A protein coding gene IGF1 in human. phenio_relaxed_subqs.owl HGNC:553 biolink:NamedThing AOX1 (human) A protein coding gene AOX1 in human. phenio_relaxed_subqs.owl HGNC:5870 biolink:NamedThing IGLL1 (human) A protein coding gene IGLL1 in human. phenio_relaxed_subqs.owl HGNC:5962 biolink:NamedThing IL10 (human) A protein coding gene IL10 in human. phenio_relaxed_subqs.owl HGNC:5969 biolink:NamedThing IL12A (human) A protein coding gene IL12A in human. phenio_relaxed_subqs.owl HGNC:5970 biolink:NamedThing IL12B (human) A protein coding gene IL12B in human. phenio_relaxed_subqs.owl HGNC:5973 biolink:NamedThing IL13 (human) A protein coding gene IL13 in human. phenio_relaxed_subqs.owl HGNC:5977 biolink:NamedThing IL15 (human) A protein coding gene IL15 in human. phenio_relaxed_subqs.owl HGNC:5980 biolink:NamedThing IL16 (human) A protein coding gene IL16 in human. phenio_relaxed_subqs.owl HGNC:5986 biolink:NamedThing IL18 (human) A protein coding gene IL18 in human. phenio_relaxed_subqs.owl HGNC:5991 biolink:NamedThing IL1A (human) A protein coding gene IL1A in human. phenio_relaxed_subqs.owl HGNC:5992 biolink:NamedThing IL1B (human) A protein coding gene IL1B in human. phenio_relaxed_subqs.owl HGNC:6001 biolink:NamedThing IL2 (human) A protein coding gene IL2 in human. phenio_relaxed_subqs.owl HGNC:6005 biolink:NamedThing IL21 (human) A protein coding gene IL21 in human. phenio_relaxed_subqs.owl HGNC:6008 biolink:NamedThing IL2RA (human) A protein coding gene IL2RA in human. phenio_relaxed_subqs.owl HGNC:6009 biolink:NamedThing IL2RB (human) A protein coding gene IL2RB in human. phenio_relaxed_subqs.owl HGNC:6011 biolink:NamedThing IL3 (human) A protein coding gene IL3 in human. phenio_relaxed_subqs.owl HGNC:6012 biolink:NamedThing IL3RA (human) A protein coding gene IL3RA in human. phenio_relaxed_subqs.owl HGNC:6014 biolink:NamedThing IL4 (human) A protein coding gene IL4 in human. phenio_relaxed_subqs.owl HGNC:6016 biolink:NamedThing IL5 (human) A protein coding gene IL5 in human. phenio_relaxed_subqs.owl HGNC:6017 biolink:NamedThing IL5RA (human) A protein coding gene IL5RA in human. phenio_relaxed_subqs.owl HGNC:6018 biolink:NamedThing IL6 (human) A protein coding gene IL6 in human. phenio_relaxed_subqs.owl HGNC:6023 biolink:NamedThing IL7 (human) A protein coding gene IL7 in human. phenio_relaxed_subqs.owl HGNC:6024 biolink:NamedThing IL7R (human) A protein coding gene IL7R in human. phenio_relaxed_subqs.owl HGNC:6025 biolink:NamedThing CXCL8 (human) A protein coding gene CXCL8 in human. phenio_relaxed_subqs.owl HGNC:6029 biolink:NamedThing IL9 (human) A protein coding gene IL9 in human. phenio_relaxed_subqs.owl HGNC:6081 biolink:NamedThing INS (human) A protein coding gene INS in human. phenio_relaxed_subqs.owl HGNC:613 biolink:NamedThing APOE (human) A protein coding gene APOE in human. phenio_relaxed_subqs.owl HGNC:6137 biolink:NamedThing ITGA2 (human) A protein coding gene ITGA2 in human. phenio_relaxed_subqs.owl HGNC:6138 biolink:NamedThing ITGA2B (human) A protein coding gene ITGA2B in human. phenio_relaxed_subqs.owl HGNC:6149 biolink:NamedThing ITGAM (human) A protein coding gene ITGAM in human. phenio_relaxed_subqs.owl HGNC:6152 biolink:NamedThing ITGAX (human) A protein coding gene ITGAX in human. phenio_relaxed_subqs.owl HGNC:6162 biolink:NamedThing ITGB7 (human) A protein coding gene ITGB7 in human. phenio_relaxed_subqs.owl HGNC:6307 biolink:NamedThing KDR (human) A protein coding gene KDR in human. phenio_relaxed_subqs.owl HGNC:6342 biolink:NamedThing KIT (human) A protein coding gene KIT in human. phenio_relaxed_subqs.owl HGNC:6553 biolink:NamedThing LEP (human) A protein coding gene LEP in human. phenio_relaxed_subqs.owl HGNC:6561 biolink:NamedThing LGALS1 (human) A protein coding gene LGALS1 in human. phenio_relaxed_subqs.owl HGNC:6563 biolink:NamedThing LGALS3 (human) A protein coding gene LGALS3 in human. phenio_relaxed_subqs.owl HGNC:6720 biolink:NamedThing LTF (human) A protein coding gene LTF in human. phenio_relaxed_subqs.owl HGNC:6925 biolink:NamedThing MBP (human) A protein coding gene MBP in human. phenio_relaxed_subqs.owl HGNC:7045 biolink:NamedThing MGAT2 (human) A protein coding gene MGAT2 in human. phenio_relaxed_subqs.owl HGNC:7154 biolink:NamedThing MME (human) A protein coding gene MME in human. phenio_relaxed_subqs.owl HGNC:7228 biolink:NamedThing MRC1 (human) A protein coding gene MRC1 in human. phenio_relaxed_subqs.owl HGNC:7315 biolink:NamedThing MS4A1 (human) A protein coding gene MS4A1 in human. phenio_relaxed_subqs.owl HGNC:7656 biolink:NamedThing NCAM1 (human) A protein coding gene NCAM1 in human. phenio_relaxed_subqs.owl HGNC:7720 biolink:NamedThing NEB (human) A protein coding gene NEB in human. phenio_relaxed_subqs.owl HGNC:7795 biolink:NamedThing NFKB2 (human) A protein coding gene NFKB2 in human. phenio_relaxed_subqs.owl HGNC:7939 biolink:NamedThing NPPA (human) A protein coding gene NPPA in human. phenio_relaxed_subqs.owl HGNC:8149 biolink:NamedThing OPLAH (human) A protein coding gene OPLAH in human. phenio_relaxed_subqs.owl HGNC:8498 biolink:NamedThing ORM1 (human) A protein coding gene ORM1 in human. phenio_relaxed_subqs.owl HGNC:8582 biolink:NamedThing PAH (human) A protein coding gene PAH in human. phenio_relaxed_subqs.owl HGNC:8619 biolink:NamedThing PAX5 (human) A protein coding gene PAX5 in human. phenio_relaxed_subqs.owl HGNC:8760 biolink:NamedThing PDCD1 (human) A protein coding gene PDCD1 in human. phenio_relaxed_subqs.owl HGNC:9053 biolink:NamedThing PLAUR (human) A protein coding gene PLAUR in human. phenio_relaxed_subqs.owl HGNC:9327 biolink:NamedThing PPY (human) A protein coding gene PPY in human. phenio_relaxed_subqs.owl HGNC:9360 biolink:NamedThing PRF1 (human) A protein coding gene PRF1 in human. phenio_relaxed_subqs.owl HGNC:9445 biolink:NamedThing PRL (human) A protein coding gene PRL in human. phenio_relaxed_subqs.owl HGNC:9454 biolink:NamedThing PROM1 (human) A protein coding gene PROM1 in human. phenio_relaxed_subqs.owl HGNC:9606 biolink:NamedThing PTH (human) A protein coding gene PTH in human. phenio_relaxed_subqs.owl HGNC:9662 biolink:NamedThing SIRPA (human) A protein coding gene SIRPA in human. phenio_relaxed_subqs.owl HGNC:9666 biolink:NamedThing PTPRC (human) A protein coding gene PTPRC in human. phenio_relaxed_subqs.owl HGNC:9831 biolink:NamedThing RAG1 (human) A protein coding gene RAG1 in human. phenio_relaxed_subqs.owl HGNC:9832 biolink:NamedThing RAG2 (human) A protein coding gene RAG2 in human. phenio_relaxed_subqs.owl HGNC:9958 biolink:NamedThing REN (human) A protein coding gene REN in human. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:101907 biolink:NamedThing Klra1 (mouse) A protein coding gene Klra1 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:102949 biolink:NamedThing Foxn1 (mouse) A protein coding gene Foxn1 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:103011 biolink:NamedThing Ccr7 (mouse) A protein coding gene Ccr7 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:103014 biolink:NamedThing Il15 (mouse) A protein coding gene Il15 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:103567 biolink:NamedThing Cxcr5 (mouse) A protein coding gene Cxcr5 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:104616 biolink:NamedThing Ccr3 (mouse) A protein coding gene Ccr3 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:104618 biolink:NamedThing Ccr1 (mouse) A protein coding gene Ccr1 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:104663 biolink:NamedThing Lep (mouse) A protein coding gene Lep in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:104768 biolink:NamedThing Gast (mouse) A protein coding gene Gast in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:104798 biolink:NamedThing Tnf (mouse) A protein coding gene Tnf in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:104856 biolink:NamedThing Rorc (mouse) A protein coding gene Rorc in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:104879 biolink:NamedThing Pdcd1 (mouse) A protein coding gene Pdcd1 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:105057 biolink:NamedThing Cdh5 (mouse) A protein coding gene Cdh5 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:105979 biolink:NamedThing G6pdx (mouse) A protein coding gene G6pdx in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:106185 biolink:NamedThing Ccr2 (mouse) A protein coding gene Ccr2 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:106201 biolink:NamedThing Tmed1 (mouse) A protein coding gene Tmed1 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:106645 biolink:NamedThing Enpep (mouse) A protein coding gene Enpep in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:106664 biolink:NamedThing Cd93 (mouse) A protein coding gene Cd93 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:106675 biolink:NamedThing Adipoq (mouse) A protein coding gene Adipoq in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:106910 biolink:NamedThing Ly76 (mouse) A protein coding gene Ly76 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:106912 biolink:NamedThing Adgre1 (mouse) A protein coding gene Adgre1 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:107182 biolink:NamedThing Ccr5 (mouse) A protein coding gene Ccr5 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:107187 biolink:NamedThing Bcl6 (mouse) A protein coding gene Bcl6 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:107474 biolink:NamedThing Cd38 (mouse) A protein coding gene Cd38 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:107527 biolink:NamedThing Ly6a (mouse) A protein coding gene Ly6a in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:107538 biolink:NamedThing Klrb1c (mouse) A protein coding gene Klrb1c in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:107656 biolink:NamedThing Ifng (mouse) A protein coding gene Ifng in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:107657 biolink:NamedThing Ifnb1 (mouse) A protein coding gene Ifnb1 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:107823 biolink:NamedThing Ctsk (mouse) A protein coding gene Ctsk in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:107936 biolink:NamedThing Il18 (mouse) A protein coding gene Il18 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:108563 biolink:NamedThing Sirpa (mouse) A protein coding gene Sirpa in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:109294 biolink:NamedThing Cd244 (mouse) A protein coding gene Cd244 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:109440 biolink:NamedThing Ly6g (mouse) A protein coding gene Ly6g in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:109563 biolink:NamedThing Cxcr4 (mouse) A protein coding gene Cxcr4 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:109587 biolink:NamedThing Tnfrsf11b (mouse) A protein coding gene Tnfrsf11b in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:1099800 biolink:NamedThing Nfkb2 (mouse) A protein coding gene Nfkb2 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:1100089 biolink:NamedThing Tnfsf11 (mouse) A protein coding gene Tnfsf11 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:1100886 biolink:NamedThing Prom1 (mouse) A protein coding gene Prom1 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:1202394 biolink:NamedThing Cblif (mouse) A protein coding gene Cblif in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:1270855 biolink:NamedThing Il16 (mouse) A protein coding gene Il16 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:1277207 biolink:NamedThing Cxcr3 (mouse) A protein coding gene Cxcr3 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:1306805 biolink:NamedThing Tff2 (mouse) A protein coding gene Tff2 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:1314891 biolink:NamedThing Tnfrsf11a (mouse) A protein coding gene Tnfrsf11a in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:1333797 biolink:NamedThing Ccr6 (mouse) A protein coding gene Ccr6 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:1333815 biolink:NamedThing Cx3cr1 (mouse) A protein coding gene Cx3cr1 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:1339758 biolink:NamedThing Csf1r (mouse) A protein coding gene Csf1r in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:1349162 biolink:NamedThing Sdc1 (mouse) A protein coding gene Sdc1 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:1351314 biolink:NamedThing Slamf1 (mouse) A protein coding gene Slamf1 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:1858745 biolink:NamedThing Icos (mouse) A protein coding gene Icos in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:1861431 biolink:NamedThing Clec7a (mouse) A protein coding gene Clec7a in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:1888984 biolink:NamedThing Tbx21 (mouse) A protein coding gene Tbx21 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:1890474 biolink:NamedThing Il21 (mouse) A protein coding gene Il21 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:1916415 biolink:NamedThing Cd209b (mouse) A protein coding gene Cd209b in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:1921496 biolink:NamedThing Gale (mouse) A protein coding gene Gale in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:1921853 biolink:NamedThing Cd200r3 (mouse) A protein coding gene Cd200r3 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:1922725 biolink:NamedThing Oplah (mouse) A protein coding gene Oplah in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:1932410 biolink:NamedThing Il23a (mouse) A protein coding gene Il23a in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:2135946 biolink:NamedThing Cd163 (mouse) A protein coding gene Cd163 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:2139667 biolink:NamedThing Dpyd (mouse) A protein coding gene Dpyd in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:2140113 biolink:NamedThing Hist2h4 (mouse) A protein coding gene Hist2h4 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:2143702 biolink:NamedThing Enpp3 (mouse) A protein coding gene Enpp3 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:2151253 biolink:NamedThing Calca (mouse) A protein coding gene Calca in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:2180021 biolink:NamedThing Cd207 (mouse) A protein coding gene Cd207 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:2384966 biolink:NamedThing Mgat2 (mouse) A protein coding gene Mgat2 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:2385287 biolink:NamedThing Spon1 (mouse) A protein coding gene Spon1 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:2448419 biolink:NamedThing Hist1h4a (mouse) A protein coding gene Hist1h4a in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:2448420 biolink:NamedThing Hist1h4b (mouse) A protein coding gene Hist1h4b in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:2448421 biolink:NamedThing Hist1h4c (mouse) A protein coding gene Hist1h4c in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:2448423 biolink:NamedThing Hist1h4d (mouse) A protein coding gene Hist1h4d in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:2448425 biolink:NamedThing Hist1h4f (mouse) A protein coding gene Hist1h4f in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:2448427 biolink:NamedThing Hist1h4h (mouse) A protein coding gene Hist1h4h in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:2448432 biolink:NamedThing Hist1h4i (mouse) A protein coding gene Hist1h4i in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:2448436 biolink:NamedThing Hist1h4j (mouse) A protein coding gene Hist1h4j in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:2448439 biolink:NamedThing Hist1h4k (mouse) A protein coding gene Hist1h4k in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:2448441 biolink:NamedThing Hist1h4m (mouse) A protein coding gene Hist1h4m in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:2448443 biolink:NamedThing Hist4h4 (mouse) A protein coding gene Hist4h4 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:2674311 biolink:NamedThing Sspo (mouse) A protein coding gene Sspo in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:3512453 biolink:NamedThing A4galt (mouse) A protein coding gene A4galt in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:3712069 biolink:NamedThing Ly6c2 (mouse) A protein coding gene Ly6c2 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:87883 biolink:NamedThing Acp5 (mouse) A protein coding gene Acp5 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:87951 biolink:NamedThing Afp (mouse) A protein coding gene Afp in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:87963 biolink:NamedThing Agt (mouse) A protein coding gene Agt in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:87983 biolink:NamedThing Alpl (mouse) A protein coding gene Alpl in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:87991 biolink:NamedThing Alb (mouse) A protein coding gene Alb in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:88035 biolink:NamedThing Aox1 (mouse) A protein coding gene Aox1 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:88057 biolink:NamedThing Apoe (mouse) A protein coding gene Apoe in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:88271 biolink:NamedThing Cat (mouse) A protein coding gene Cat in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:88318 biolink:NamedThing Cd14 (mouse) A protein coding gene Cd14 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:88319 biolink:NamedThing Cd19 (mouse) A protein coding gene Cd19 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:88320 biolink:NamedThing Cd2 (mouse) A protein coding gene Cd2 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:88321 biolink:NamedThing Ms4a1 (mouse) A protein coding gene Ms4a1 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:88322 biolink:NamedThing Cd22 (mouse) A protein coding gene Cd22 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:88323 biolink:NamedThing Cd24a (mouse) A protein coding gene Cd24a in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:88326 biolink:NamedThing Cd27 (mouse) A protein coding gene Cd27 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:88329 biolink:NamedThing Cd34 (mouse) A protein coding gene Cd34 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:88332 biolink:NamedThing Cd3e (mouse) A protein coding gene Cd3e in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:88335 biolink:NamedThing Cd4 (mouse) A protein coding gene Cd4 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:88337 biolink:NamedThing Cd40lg (mouse) A protein coding gene Cd40lg in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:88338 biolink:NamedThing Cd44 (mouse) A protein coding gene Cd44 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:88339 biolink:NamedThing Cd48 (mouse) A protein coding gene Cd48 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:88340 biolink:NamedThing Cd5 (mouse) A protein coding gene Cd5 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:88342 biolink:NamedThing Cd68 (mouse) A protein coding gene Cd68 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:88343 biolink:NamedThing Cd69 (mouse) A protein coding gene Cd69 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:88344 biolink:NamedThing Cd7 (mouse) A protein coding gene Cd7 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:88346 biolink:NamedThing Cd8a (mouse) A protein coding gene Cd8a in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:88347 biolink:NamedThing Cd8b1 (mouse) A protein coding gene Cd8b1 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:88348 biolink:NamedThing Cd9 (mouse) A protein coding gene Cd9 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:88469 biolink:NamedThing Comp (mouse) A protein coding gene Comp in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:88476 biolink:NamedThing Cp (mouse) A protein coding gene Cp in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:88489 biolink:NamedThing Cr2 (mouse) A protein coding gene Cr2 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:88496 biolink:NamedThing Crh (mouse) A protein coding gene Crh in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:88512 biolink:NamedThing Crp (mouse) A protein coding gene Crp in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:95296 biolink:NamedThing Egr2 (mouse) A protein coding gene Egr2 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:95317 biolink:NamedThing Eln (mouse) A protein coding gene Eln in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:95392 biolink:NamedThing Eng (mouse) A protein coding gene Eng in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:95407 biolink:NamedThing Epo (mouse) A protein coding gene Epo in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:95494 biolink:NamedThing Fcer1a (mouse) A protein coding gene Fcer1a in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:95497 biolink:NamedThing Fcer2a (mouse) A protein coding gene Fcer2a in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:95499 biolink:NamedThing Fcgr2 (mouse) A protein coding gene Fcgr2 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:95500 biolink:NamedThing Fcgr3 (mouse) A protein coding gene Fcgr3 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:95559 biolink:NamedThing Flt3 (mouse) A protein coding gene Flt3 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:95574 biolink:NamedThing Fos (mouse) A protein coding gene Fos in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:95632 biolink:NamedThing Gad1 (mouse) A protein coding gene Gad1 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:95661 biolink:NamedThing Gata1 (mouse) A protein coding gene Gata1 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:95662 biolink:NamedThing Gata2 (mouse) A protein coding gene Gata2 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:95663 biolink:NamedThing Gata3 (mouse) A protein coding gene Gata3 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:95674 biolink:NamedThing Gcg (mouse) A protein coding gene Gcg in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:95697 biolink:NamedThing Gfap (mouse) A protein coding gene Gfap in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:95753 biolink:NamedThing Glud1 (mouse) A protein coding gene Glud1 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:95791 biolink:NamedThing Got1 (mouse) A protein coding gene Got1 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:95792 biolink:NamedThing Got2 (mouse) A protein coding gene Got2 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:95797 biolink:NamedThing Gpi1 (mouse) A protein coding gene Gpi1 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:95802 biolink:NamedThing Gpt (mouse) A protein coding gene Gpt in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96019 biolink:NamedThing Hba-x (mouse) A protein coding gene Hba-x in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96021 biolink:NamedThing Hbb-b1 (mouse) A protein coding gene Hbb-b1 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96213 biolink:NamedThing Hpd (mouse) A protein coding gene Hpd in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96417 biolink:NamedThing Ids (mouse) A protein coding gene Ids in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96432 biolink:NamedThing Igf1 (mouse) A protein coding gene Igf1 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96537 biolink:NamedThing Il10 (mouse) A protein coding gene Il10 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96539 biolink:NamedThing Il12a (mouse) A protein coding gene Il12a in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96540 biolink:NamedThing Il12b (mouse) A protein coding gene Il12b in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96541 biolink:NamedThing Il13 (mouse) A protein coding gene Il13 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96542 biolink:NamedThing Il1a (mouse) A protein coding gene Il1a in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96543 biolink:NamedThing Il1b (mouse) A protein coding gene Il1b in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96548 biolink:NamedThing Il2 (mouse) A protein coding gene Il2 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96549 biolink:NamedThing Il2ra (mouse) A protein coding gene Il2ra in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96550 biolink:NamedThing Il2rb (mouse) A protein coding gene Il2rb in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96552 biolink:NamedThing Il3 (mouse) A protein coding gene Il3 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96553 biolink:NamedThing Il3ra (mouse) A protein coding gene Il3ra in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96556 biolink:NamedThing Il4 (mouse) A protein coding gene Il4 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96557 biolink:NamedThing Il5 (mouse) A protein coding gene Il5 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96558 biolink:NamedThing Il5ra (mouse) A protein coding gene Il5ra in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96559 biolink:NamedThing Il6 (mouse) A protein coding gene Il6 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96561 biolink:NamedThing Il7 (mouse) A protein coding gene Il7 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96562 biolink:NamedThing Il7r (mouse) A protein coding gene Il7r in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96563 biolink:NamedThing Il9 (mouse) A protein coding gene Il9 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96600 biolink:NamedThing Itga2 (mouse) A protein coding gene Itga2 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96601 biolink:NamedThing Itga2b (mouse) A protein coding gene Itga2b in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96607 biolink:NamedThing Itgam (mouse) A protein coding gene Itgam in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96609 biolink:NamedThing Itgax (mouse) A protein coding gene Itgax in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96616 biolink:NamedThing Itgb7 (mouse) A protein coding gene Itgb7 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96677 biolink:NamedThing Kit (mouse) A protein coding gene Kit in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96683 biolink:NamedThing Kdr (mouse) A protein coding gene Kdr in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96777 biolink:NamedThing Lgals1 (mouse) A protein coding gene Lgals1 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96778 biolink:NamedThing Lgals3 (mouse) A protein coding gene Lgals3 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96837 biolink:NamedThing Ltf (mouse) A protein coding gene Ltf in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:96925 biolink:NamedThing Mbp (mouse) A protein coding gene Mbp in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:97004 biolink:NamedThing Mme (mouse) A protein coding gene Mme in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:97142 biolink:NamedThing Mrc1 (mouse) A protein coding gene Mrc1 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:97281 biolink:NamedThing Ncam1 (mouse) A protein coding gene Ncam1 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:97367 biolink:NamedThing Nppa (mouse) A protein coding gene Nppa in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:97473 biolink:NamedThing Pah (mouse) A protein coding gene Pah in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:97489 biolink:NamedThing Pax5 (mouse) A protein coding gene Pax5 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:97551 biolink:NamedThing Prf1 (mouse) A protein coding gene Prf1 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:97612 biolink:NamedThing Plaur (mouse) A protein coding gene Plaur in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:97753 biolink:NamedThing Ppy (mouse) A protein coding gene Ppy in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:97762 biolink:NamedThing Prl (mouse) A protein coding gene Prl in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:97848 biolink:NamedThing Rag1 (mouse) A protein coding gene Rag1 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:97849 biolink:NamedThing Rag2 (mouse) A protein coding gene Rag2 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:98279 biolink:NamedThing Sell (mouse) A protein coding gene Sell in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:98282 biolink:NamedThing Spi1 (mouse) A protein coding gene Spi1 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:98297 biolink:NamedThing Shh (mouse) A protein coding gene Shh in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:98326 biolink:NamedThing Sst (mouse) A protein coding gene Sst in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:98384 biolink:NamedThing Spn (mouse) A protein coding gene Spn in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:98480 biolink:NamedThing Tal1 (mouse) A protein coding gene Tal1 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:98659 biolink:NamedThing Dntt (mouse) A protein coding gene Dntt in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:98747 biolink:NamedThing Thy1 (mouse) A protein coding gene Thy1 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:98822 biolink:NamedThing Tfrc (mouse) A protein coding gene Tfrc in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:98941 biolink:NamedThing Vwf (mouse) A protein coding gene Vwf in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:98973 biolink:NamedThing Xdh (mouse) A protein coding gene Xdh in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:99440 biolink:NamedThing Cd33 (mouse) A protein coding gene Cd33 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:99480 biolink:NamedThing Cebpa (mouse) A protein coding gene Cebpa in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:99604 biolink:NamedThing Fgf8 (mouse) A protein coding gene Fgf8 in mouse. phenio_relaxed_subqs.owl http://www.informatics.jax.org/marker/MGI:99668 biolink:NamedThing Siglec1 (mouse) A protein coding gene Siglec1 in mouse. phenio_relaxed_subqs.owl http://www.pombase.org/spombe/result/SPAC1834.03c biolink:NamedThing hhf1 (Schizosaccharomyces pombe) A protein coding gene hhf1 in Schizosaccharomyces pombe. phenio_relaxed_subqs.owl http://www.pombase.org/spombe/result/SPBC1105.12 biolink:NamedThing hhf3 (Schizosaccharomyces pombe) A protein coding gene hhf3 in Schizosaccharomyces pombe. phenio_relaxed_subqs.owl http://www.pombase.org/spombe/result/SPBC8D2.03c biolink:NamedThing hhf2 (Schizosaccharomyces pombe) A protein coding gene hhf2 in Schizosaccharomyces pombe. phenio_relaxed_subqs.owl http://www.wormbase.org/species/c_elegans/gene/WBGene00000240 biolink:NamedThing pah-1 (worm) A protein coding gene pah-1 in worm. phenio_relaxed_subqs.owl http://www.wormbase.org/species/c_elegans/gene/WBGene00001875 biolink:NamedThing his-1 (worm) A protein coding gene his-1 in worm. phenio_relaxed_subqs.owl http://www.wormbase.org/species/c_elegans/gene/WBGene00001879 biolink:NamedThing his-5 (worm) A protein coding gene his-5 in worm. phenio_relaxed_subqs.owl http://www.wormbase.org/species/c_elegans/gene/WBGene00001884 biolink:NamedThing his-10 (worm) A protein coding gene his-10 in worm. phenio_relaxed_subqs.owl http://www.wormbase.org/species/c_elegans/gene/WBGene00001888 biolink:NamedThing his-14 (worm) A protein coding gene his-14 in worm. phenio_relaxed_subqs.owl http://www.wormbase.org/species/c_elegans/gene/WBGene00001892 biolink:NamedThing his-18 (worm) A protein coding gene his-18 in worm. phenio_relaxed_subqs.owl http://www.wormbase.org/species/c_elegans/gene/WBGene00001900 biolink:NamedThing his-26 (worm) A protein coding gene his-26 in worm. phenio_relaxed_subqs.owl http://www.wormbase.org/species/c_elegans/gene/WBGene00001902 biolink:NamedThing his-28 (worm) A protein coding gene his-28 in worm. phenio_relaxed_subqs.owl http://www.wormbase.org/species/c_elegans/gene/WBGene00001905 biolink:NamedThing his-31 (worm) A protein coding gene his-31 in worm. phenio_relaxed_subqs.owl http://www.wormbase.org/species/c_elegans/gene/WBGene00001911 biolink:NamedThing his-37 (worm) A protein coding gene his-37 in worm. phenio_relaxed_subqs.owl http://www.wormbase.org/species/c_elegans/gene/WBGene00001912 biolink:NamedThing his-38 (worm) A protein coding gene his-38 in worm. phenio_relaxed_subqs.owl http://www.wormbase.org/species/c_elegans/gene/WBGene00001920 biolink:NamedThing his-46 (worm) A protein coding gene his-46 in worm. phenio_relaxed_subqs.owl http://www.wormbase.org/species/c_elegans/gene/WBGene00001924 biolink:NamedThing his-50 (worm) A protein coding gene his-50 in worm. phenio_relaxed_subqs.owl http://www.wormbase.org/species/c_elegans/gene/WBGene00001930 biolink:NamedThing his-56 (worm) A protein coding gene his-56 in worm. phenio_relaxed_subqs.owl http://www.wormbase.org/species/c_elegans/gene/WBGene00001934 biolink:NamedThing his-60 (worm) A protein coding gene his-60 in worm. phenio_relaxed_subqs.owl http://www.wormbase.org/species/c_elegans/gene/WBGene00001938 biolink:NamedThing his-64 (worm) A protein coding gene his-64 in worm. phenio_relaxed_subqs.owl http://www.wormbase.org/species/c_elegans/gene/WBGene00001941 biolink:NamedThing his-67 (worm) A protein coding gene his-67 in worm. phenio_relaxed_subqs.owl http://www.wormbase.org/species/c_elegans/gene/WBGene00001993 biolink:NamedThing hpd-1 (worm) A protein coding gene hpd-1 in worm. phenio_relaxed_subqs.owl http://www.wormbase.org/species/c_elegans/gene/WBGene00006893 biolink:NamedThing spon-1 (worm) A protein coding gene spon-1 in worm. phenio_relaxed_subqs.owl http://www.wormbase.org/species/c_elegans/gene/WBGene00007108 biolink:NamedThing gspd-1 (worm) A protein coding gene gspd-1 in worm. phenio_relaxed_subqs.owl http://www.wormbase.org/species/c_elegans/gene/WBGene00008132 biolink:NamedThing gale-1 (worm) A protein coding gene gale-1 in worm. phenio_relaxed_subqs.owl http://www.wormbase.org/species/c_elegans/gene/WBGene00016103 biolink:NamedThing dpyd-1 (worm) A protein coding gene dpyd-1 in worm. phenio_relaxed_subqs.owl http://www.wormbase.org/species/c_elegans/gene/WBGene00020146 biolink:NamedThing got-1.2 (worm) A protein coding gene got-1.2 in worm. phenio_relaxed_subqs.owl ZFIN:action/marker/view/ZDB-GENE-000210-20 biolink:NamedThing cat (zebrafish) A protein coding gene cat in zebrafish. phenio_relaxed_subqs.owl ZFIN:action/marker/view/ZDB-GENE-001205-1 biolink:NamedThing csf1ra (zebrafish) A protein coding gene csf1ra in zebrafish. phenio_relaxed_subqs.owl ZFIN:action/marker/view/ZDB-GENE-030131-1577 biolink:NamedThing prom1a (zebrafish) A protein coding gene prom1a in zebrafish. phenio_relaxed_subqs.owl ZFIN:action/marker/view/ZDB-GENE-041001-112 biolink:NamedThing kdr (zebrafish) A protein coding gene kdr in zebrafish. phenio_relaxed_subqs.owl ZFIN:action/marker/view/ZDB-GENE-050302-11 biolink:NamedThing gpt (zebrafish) A protein coding gene gpt in zebrafish. phenio_relaxed_subqs.owl ZFIN:action/marker/view/ZDB-GENE-061218-3 biolink:NamedThing epoa (zebrafish) A protein coding gene epoa in zebrafish. phenio_relaxed_subqs.owl ZFIN:action/marker/view/ZDB-GENE-980526-110 biolink:NamedThing ins (zebrafish) A protein coding gene ins in zebrafish. phenio_relaxed_subqs.owl ZFIN:action/marker/view/ZDB-GENE-980526-283 biolink:NamedThing egr2b (zebrafish) A protein coding gene egr2b in zebrafish. phenio_relaxed_subqs.owl ZFIN:action/marker/view/ZDB-GENE-980526-501 biolink:NamedThing tal1 (zebrafish) A protein coding gene tal1 in zebrafish. phenio_relaxed_subqs.owl ZFIN:action/marker/view/ZDB-GENE-990415-234 biolink:NamedThing rag1 (zebrafish) A protein coding gene rag1 in zebrafish. phenio_relaxed_subqs.owl ZFIN:action/marker/view/ZDB-GENE-990415-235 biolink:NamedThing rag2 (zebrafish) A protein coding gene rag2 in zebrafish. phenio_relaxed_subqs.owl ZFIN:action/marker/view/ZDB-GENE-990415-72 biolink:NamedThing fgf8a (zebrafish) A protein coding gene fgf8a in zebrafish. phenio_relaxed_subqs.owl ZFIN:action/marker/view/ZDB-GENE-990415-82 biolink:NamedThing gata3 (zebrafish) A protein coding gene gata3 in zebrafish. phenio_relaxed_subqs.owl ZFIN:action/marker/view/ZDB-GENE-990914-3 biolink:NamedThing gfap (zebrafish) A protein coding gene gfap in zebrafish. phenio_relaxed_subqs.owl UMLS:C0000744 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008692 biolink:NamedThing abetalipoproteinemia Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations. phenio_relaxed_subqs.owl DOID:1386 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000005 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000012 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84525 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:200100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_190787008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:14 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0000774 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001770 biolink:NamedThing gastrin secretion abnormality phenio_relaxed_subqs.owl DOID:13656 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_251.5 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019610 biolink:NamedThing Zollinger-Ellison syndrome Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion. phenio_relaxed_subqs.owl OBO:SCTID_47344007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0000833 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005227 biolink:NamedThing abscess An inflammatory process characterized by the accumulation of pus within a newly formed tissue cavity which is the result of a bacterial, fungal, or parasitic infection or the presence of a foreign body. phenio_relaxed_subqs.owl OBO:MESH_D000038 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000744 biolink:NamedThing lung abscess A bacterial, fungal or parasitic abscess that develops in the lung parenchyma. Causes include aspiration pneumonia, necrotizing pneumonia, necrotizing malignant tumors, and Wegener's granulomatosis. phenio_relaxed_subqs.owl MONDO:0000749 biolink:NamedThing breast abscess A breast disease characterized by a collection of pus in the breast. phenio_relaxed_subqs.owl MONDO:0000939 biolink:NamedThing intracranial abscess An abscess that is located in the intracranial space. phenio_relaxed_subqs.owl MONDO:0001307 biolink:NamedThing corneal abscess An abscess of the cornea. phenio_relaxed_subqs.owl MONDO:0001922 biolink:NamedThing pyoureter An abscess that is located in the ureter. phenio_relaxed_subqs.owl MONDO:0002333 biolink:NamedThing splenic abscess An abscess that is located in the spleen. phenio_relaxed_subqs.owl MONDO:0004862 biolink:NamedThing vitreous abscess phenio_relaxed_subqs.owl MONDO:0005752 biolink:NamedThing epidural abscess Circumscribed collections of suppurative material occurring in the spinal or intracranial epidural space. The majority of epidural abscesses occur in the spinal canal and are associated with osteomyelitis of a vertebral body; analgesia, epidural; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, urinary incontinence, and fecal incontinence. Cranial epidural abscesses are usually associated with osteomyelitis of a cranial bone, sinusitis, or otitis media. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12) phenio_relaxed_subqs.owl MONDO:0005906 biolink:NamedThing peritonsillar abscess An abscess that develops in the space surrounding one or both palatine tonsils. phenio_relaxed_subqs.owl MONDO:0700051 biolink:NamedThing liver abscess (disease) An abscess that involves the liver. phenio_relaxed_subqs.owl MONDO:0700052 biolink:NamedThing intersphincteric abscess An abscess contained between the internal and external anal sphincters. phenio_relaxed_subqs.owl NCIT:C26686 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_128477000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0003030 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0000880 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005629 biolink:NamedThing Acanthamoeba keratitis Keratitis due to infection by acanthamoeba; it is usually associated with soft contact lens wear, particularly overnight wear. phenio_relaxed_subqs.owl OBO:GARD_0009285 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015823 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C50450 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_231896005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007126 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:67043 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0001139 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006635 biolink:NamedThing Acinetobacter infectious disease Infections with bacteria of the genus acinetobacter. phenio_relaxed_subqs.owl DOID:3091 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000151 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000792 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0001193 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007041 biolink:NamedThing apert syndrome Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly. phenio_relaxed_subqs.owl OBO:GARD_0005833 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000168 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0023699 biolink:NamedThing Maroteaux Fonfria syndrome phenio_relaxed_subqs.owl NCIT:C99099 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:101200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_205258009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:87 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0001206 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019933 biolink:NamedThing acromegaly Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations. phenio_relaxed_subqs.owl DOID:2449 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005725 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000172 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84533 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_74107003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001485 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:963 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0001231 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0043472 biolink:NamedThing ectopic ACTH secretion syndrome A syndrome characterized by abnormal secretion of adrenocorticotrophic hormone in conjunction with neoplastic growth occurring anywhere in the body. The most common associations are tumors of the bronchus (oat cell or carcinoid), thymic tumors (epithelial or carcinoid), and pancreatic endocrine tumor. (DeVita et al. Cancer, p 1364. 4th edition. Lippincott) phenio_relaxed_subqs.owl OBO:MESH_D000182 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4387 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_626004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0001247 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005630 biolink:NamedThing actinobacillosis A disease characterized by suppurative and granulomatous lesions in the respiratory tract, upper alimentary tract, skin, kidneys, joints, and other tissues. Actinobacillus lignieresii infects cattle and sheep while A. equuli infects horses and pigs. phenio_relaxed_subqs.owl DOID:4974 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000187 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_16140007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007127 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0001255 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006921 biolink:NamedThing Actinomycetales infectious disease Infections with bacteria of the order actinomycetales. phenio_relaxed_subqs.owl OBO:ICD9_039.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000193 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005631 biolink:NamedThing actinomycosis Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious. phenio_relaxed_subqs.owl NCIT:C84534 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_11817007 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721751007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001122 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0001261 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8478 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005728 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000196 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004924 biolink:NamedThing chronic canaliculitis Chronic form of actinomycosis. phenio_relaxed_subqs.owl MONDO:0005699 biolink:NamedThing cervicofacial actinomycosis A form of actinomycosis characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses. phenio_relaxed_subqs.owl MONDO:0021826 biolink:NamedThing aerobic Actinomyces infection Infection with the less common aerobic antinomyces bacteria. phenio_relaxed_subqs.owl NCIT:C34350 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007128 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:457095 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0001264 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A42.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_039.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000197 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34351 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_23014006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007203 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0001306 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001505 biolink:NamedThing alcoholic hepatitis Acute hepatitis resulting from ingestion of alcohol. phenio_relaxed_subqs.owl DOID:12351 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_K70.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006519 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34684 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_235875008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0001339 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006515 biolink:NamedThing acute pancreatitis An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs. phenio_relaxed_subqs.owl UMLS:C0267941 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2913 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D019283 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C95437 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_7881005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000652 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0001360 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001949 biolink:NamedThing acute thyroiditis Acute form of thyroiditis (disease). phenio_relaxed_subqs.owl DOID:14353 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E06.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_245.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_190293001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0001396 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0043475 biolink:NamedThing Adams-Stokes syndrome An episode of sudden and transient loss of consciousness sometimes associated with seizures. It is caused by a sudden decrease of the cardiac output that results from a sudden cardiac dysrhythmia. Typically patients develop an initial pallor, followed by facial flush during recovery. phenio_relaxed_subqs.owl OBO:MESH_D000219 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C79765 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_46935006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001259 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0001431 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006673 biolink:NamedThing pituitary gland basophil adenoma An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with basic dyes. phenio_relaxed_subqs.owl DOID:4542 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000237 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C2856 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000834 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0001432 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006701 biolink:NamedThing chromophobe adenoma An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells do not stain with acidic or basic dyes. phenio_relaxed_subqs.owl DOID:3828 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000238 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C2857 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000867 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0001433 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006634 biolink:NamedThing pituitary gland acidophil adenoma An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic dyes. phenio_relaxed_subqs.owl DOID:5392 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000239 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6780 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000791 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0001486 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0043479 biolink:NamedThing adenoviridae infectious disease An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis. phenio_relaxed_subqs.owl OBO:MESH_D000257 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001615 biolink:NamedThing epidemic keratoconjunctivitis Keratoconjunctivitis resulting from infection by adenoviruses. phenio_relaxed_subqs.owl MONDO:0100110 biolink:NamedThing adenovirus renal infection phenio_relaxed_subqs.owl NCIT:C115149 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_25225006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0001519 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018690 biolink:NamedThing Holmes-Adie syndrome A rare syndrome characterized by an abnormally dilated pupil, hypoflexia, and diaphoresis. The syndrome is usually caused by a viral or bacterial infection. The abnormally dilated pupil is caused by damage to postganglionic parasympathetic fibers innervating the eye. phenio_relaxed_subqs.owl DOID:11549 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005749 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000270 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34357 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_24225004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0004126 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:454718 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0001529 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007070 biolink:NamedThing adiposis dolorosa Adiposis dolorosa or Dercum's disease is characterised by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy. phenio_relaxed_subqs.owl DOID:3928 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005750 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000274 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84540 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:103200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_71404003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000667 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:36397 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0001614 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002816 biolink:NamedThing adrenal cortex disorder A disease involving the adrenal cortex. phenio_relaxed_subqs.owl DOID:3952 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000303 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000004 biolink:NamedThing adrenocortical insufficiency An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency). phenio_relaxed_subqs.owl MONDO:0006640 biolink:NamedThing adrenal gland hyperfunction Excess production of adrenal cortex hormones. phenio_relaxed_subqs.owl MONDO:0036591 biolink:NamedThing adrenal cortex neoplasm A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05) phenio_relaxed_subqs.owl OBO:SCTID_129636003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0001622 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205287 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3947 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008252 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000308 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003009 biolink:NamedThing hyperaldosteronism Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia. phenio_relaxed_subqs.owl OBO:SCTID_275437005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000797 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0001627 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018479 biolink:NamedThing congenital adrenal hyperplasia Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease. phenio_relaxed_subqs.owl UMLS:C0701163 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050811 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001467 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000312 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008725 biolink:NamedThing congenital lipoid adrenal hyperplasia due to STAR deficency Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males. phenio_relaxed_subqs.owl MONDO:0008727 biolink:NamedThing congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias. phenio_relaxed_subqs.owl MONDO:0008728 biolink:NamedThing classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia. phenio_relaxed_subqs.owl MONDO:0008729 biolink:NamedThing congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females. phenio_relaxed_subqs.owl MONDO:0008730 biolink:NamedThing congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension. phenio_relaxed_subqs.owl MONDO:0013310 biolink:NamedThing congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations. phenio_relaxed_subqs.owl MONDO:0023601 biolink:NamedThing non-classic congenital adrenal hyperplasia A milder form of congenital adrenal hyperplasia characterized by decreased activity of an enzyme in the steroidogenic pathway, typically presenting later in life, that does not require life-long cortisol replacement. phenio_relaxed_subqs.owl MONDO:0060783 biolink:NamedThing classic congenital adrenal hyperplasia A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement. phenio_relaxed_subqs.owl NCIT:C34360 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237751000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:418 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0001727 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006641 biolink:NamedThing afferent loop syndrome A complication of gastrojejunostomy (billroth II procedure), a reconstructive gastroenterostomy. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to hernia, intussusception, kinking, volvulus, etc. It is characterized by pain and vomiting of bile-stained fluid. phenio_relaxed_subqs.owl DOID:8438 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000343 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_20813000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000799 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0001748 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0025376 biolink:NamedThing African horse sickness An insect-borne reovirus infection of horses, mules and donkeys in Africa and the Middle East; characterized by pulmonary edema, cardiac involvement, and edema of the head and neck. phenio_relaxed_subqs.owl OBO:MESH_D000355 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0001752 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0025377 biolink:NamedThing African swine fever A sometimes fatal asfivirus infection of pigs, characterized by fever, cough, diarrhea, hemorrhagic lymph nodes, and edema of the gallbladder. It is transmitted between domestic swine by direct contact, ingestion of infected meat, or fomites, or mechanically by biting flies or soft ticks (genus Ornithodoros). phenio_relaxed_subqs.owl OBO:MESH_D000357 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0001815 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009692 biolink:NamedThing primary myelofibrosis Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension. phenio_relaxed_subqs.owl UMLS:C0948968 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2355576 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4971 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008618 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D055728 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004463 biolink:NamedThing cellular phase chronic idiopathic myelofibrosis Primary myelofibrosis characterized by bone marrow hypercellularity and the presence of atypical megakaryocytes. There is no increase in the percentage of myeloblasts and no significant increase in reticulin or collagen fibrosis in the bone marrow. phenio_relaxed_subqs.owl MONDO:0023119 biolink:NamedThing familial myelofibrosis phenio_relaxed_subqs.owl MONDO:0043168 biolink:NamedThing panostotic fibrous dysplasia phenio_relaxed_subqs.owl NCIT:C2862 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:254450 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_PMF biolink:NamedThing phenio_relaxed_subqs.owl EFO:0002430 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:824 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0001849 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020689 biolink:NamedThing AIDS dementia complex A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40) phenio_relaxed_subqs.owl OBO:GARD_0008250 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015526 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C2864 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_421529006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0002608 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0001857 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005639 biolink:NamedThing AIDS related complex A prodromal phase of infection with the human immunodeficiency virus (HIV). Laboratory criteria separating aids-related complex (ARC) from aids include elevated or hyperactive B-cell humoral immune responses, compared to depressed or normal antibody reactivity in aids; follicular or mixed hyperplasia in arc lymph nodes, leading to lymphocyte degeneration and depletion more typical of aids; evolving succession of histopathological lesions such as localization of Kaposi's sarcoma, signaling the transition to the full-blown aids. phenio_relaxed_subqs.owl OBO:MESH_D000386 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007137 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0001860 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007074 biolink:NamedThing ainhum Spontaneous autoamputation of a digit, usually the fifth toe. It results from the formation of a fibrotic band which constricts the full radius of the digit and eventually causes the spontaneous autoamputation. phenio_relaxed_subqs.owl DOID:11329 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009512 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_L94.6 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_136.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000387 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84544 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:103400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_38528001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0001906 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004720 biolink:NamedThing variola minor infection A orthopoxvirus that causes a milder clinical syndrome than smallpox. phenio_relaxed_subqs.owl DOID:9153 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_050.1 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34365 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_72294005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0001916 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0043209 biolink:NamedThing albinism A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin. phenio_relaxed_subqs.owl OBO:GARD_0005768 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E70.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000417 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010403 biolink:NamedThing albinism-hearing loss syndrome A syndromic genetic hearing loss is characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1. phenio_relaxed_subqs.owl MONDO:0020275 biolink:NamedThing oculocutaneous or ocular albinism Albinism that affects the eyes, including ocular albinism and oculocutaneous albinism. phenio_relaxed_subqs.owl NCIT:C84543 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_15890002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0002016 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005641 biolink:NamedThing aleutian mink disease A slow progressive disease of mink caused by the aleutian mink disease virus. It is characterized by poor reproduction, weight loss, autoimmunity, hypergammaglobulinemia, increased susceptibility to bacterial infections, and death from renal failure. The disease occurs in all color types, but mink which are homozygous recessive for the Aleutian gene for light coat color are particularly susceptible. phenio_relaxed_subqs.owl DOID:2934 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000453 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_62251004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007139 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0002066 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008753 biolink:NamedThing alkaptonuria Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy). phenio_relaxed_subqs.owl UMLS:C2931645 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9270 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005775 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000474 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84546 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:203500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_360378009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:56 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0002395 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004975 biolink:NamedThing Alzheimer disease A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language. phenio_relaxed_subqs.owl DOID:10652 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_G30 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000544 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010422 biolink:NamedThing Alzheimer disease 16 An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3. phenio_relaxed_subqs.owl MONDO:0014036 biolink:NamedThing Alzheimer disease 17 An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2. phenio_relaxed_subqs.owl MONDO:0014265 biolink:NamedThing Alzheimer disease 18 Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene. phenio_relaxed_subqs.owl MONDO:0014316 biolink:NamedThing Alzheimer disease 19 Any Alzheimer disease in which the cause of the disease is a mutation in the PLD3 gene. phenio_relaxed_subqs.owl MONDO:0100087 biolink:NamedThing familial Alzheimer disease A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner. phenio_relaxed_subqs.owl NCIT:C2866 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:104300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_142811000119104 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000249 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:238616 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0002438 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005644 biolink:NamedThing amebiasis A parasitic infectious disorder caused by amoebas. The parasite may cause colitis which is manifested with bloody diarrhea, abdominal pain, nausea and fever. In rare cases it may spread to the liver, brain and lungs. phenio_relaxed_subqs.owl DOID:9181 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000562 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005671 biolink:NamedThing Blastocystis infectious disease Infections with organisms of the genus blastocystis. The species B. hominis is responsible for most infections. Parasitologic surveys have generally found small numbers of this species in human stools, but higher positivity rates and organism numbers in aids patients and other immunosuppressed patients (immunocompromised host). Symptoms include abdominal pain; diarrhea; constipation; vomiting; and fatigue. phenio_relaxed_subqs.owl MONDO:0024275 biolink:NamedThing amebic dysentery Dysentery caused by intestinal amebic infection, chiefly with entamoeba histolytica. This condition may be associated with amebic infection of the liver and other distant sites. phenio_relaxed_subqs.owl NCIT:C84551 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007144 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0002631 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020710 biolink:NamedThing amnionitis Inflammation of the amnion. phenio_relaxed_subqs.owl NCIT:C50459 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_10573002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0002726 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019065 biolink:NamedThing amyloidosis A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands. phenio_relaxed_subqs.owl DOID:9120 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_277.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_277.30 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000686 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015301 biolink:NamedThing primary cutaneous amyloidosis Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis. phenio_relaxed_subqs.owl MONDO:0018018 biolink:NamedThing wild type ATTR amyloidosis phenio_relaxed_subqs.owl MONDO:0018588 biolink:NamedThing ALECT2 amyloidosis A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands. phenio_relaxed_subqs.owl MONDO:0018589 biolink:NamedThing AApoAIV amyloidosis phenio_relaxed_subqs.owl MONDO:0018590 biolink:NamedThing ABeta2M amyloidosis phenio_relaxed_subqs.owl MONDO:0018613 biolink:NamedThing AH amyloidosis phenio_relaxed_subqs.owl MONDO:0018634 biolink:NamedThing hereditary amyloidosis Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants. phenio_relaxed_subqs.owl MONDO:0019438 biolink:NamedThing AL amyloidosis AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ. phenio_relaxed_subqs.owl MONDO:0019439 biolink:NamedThing AA amyloidosis Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement. phenio_relaxed_subqs.owl MONDO:0022444 biolink:NamedThing amyloidosis bronchopulmonary Amyloidosis with tracheobronchial deposits in diffuse plaques that can cause stenosis or parenchymal nodules or masses. phenio_relaxed_subqs.owl MONDO:0024892 biolink:NamedThing soft tissue amyloid neoplasm A soft tissue neoplasm composed of acellular amyloid material. phenio_relaxed_subqs.owl NCIT:C2868 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_MIDDA biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_17602002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001875 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:69 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0002831 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005645 biolink:NamedThing ancylostomiasis Infection by hookworms of the genus Ancylostoma. phenio_relaxed_subqs.owl DOID:12841 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009742 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000724 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35805 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_63479002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007145 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:78 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0002890 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005868 biolink:NamedThing myelophthisic anemia A laboratory test result indicating an abnormal amount of circulating nucleated red blood cells and immature red blood cells. phenio_relaxed_subqs.owl DOID:2354 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_D61.82 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000750 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C36218 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_2694001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007388 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0002892 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008228 biolink:NamedThing pernicious anemia Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells. phenio_relaxed_subqs.owl DOID:13381 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012671 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_281.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000752 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C2871 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:170900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_84027009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005576 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:120 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0002893 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005272 biolink:NamedThing refractory anemia A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series. Refractory anemia is uncommon. It is primarily a disease of older adults. The median survival exceeds 5 years. (WHO, 2001) phenio_relaxed_subqs.owl OBO:MESH_D000753 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C2872 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_109996008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0003802 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98826 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0002894 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019454 biolink:NamedThing myelodysplastic syndrome with excess blasts A myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow or 2-19% blasts in the peripheral blood. It includes two categories: myelodysplastic syndrome with excess blasts-1 and myelodysplastic syndrome with excess blasts-2. phenio_relaxed_subqs.owl OBO:MESH_D000754 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015040 biolink:NamedThing myelodysplastic syndrome with excess blasts-1 A myelodysplastic syndrome defined by 5-9% blasts in the bone marrow, and <5% blasts in the blood. Approximately 25% of cases progress to an acute leukemia. (WHO) phenio_relaxed_subqs.owl MONDO:0015041 biolink:NamedThing myelodysplastic syndrome with excess blasts-2 A myelodysplastic syndrome defined by 10-19% blasts in the bone marrow or 5-19% blasts in the blood and <10% blasts in the bone marrow. Approximately 33% of cases progress to acute leukemia. The prognosis is usually poor. (WHO) phenio_relaxed_subqs.owl NCIT:C7506 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_398623004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0003811 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:86839 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0002895 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011382 biolink:NamedThing sickle cell anemia Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur. phenio_relaxed_subqs.owl DOID:10923 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008614 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000755 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34383 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603903 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001797 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:232 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0002982 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011782 biolink:NamedThing angioid streaks Small breaks in the elastin-filled tissue of the retina. phenio_relaxed_subqs.owl DOID:13401 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000793 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004882 biolink:NamedThing angioid streaks of choroid A angioid streaks that involves the optic choroid. phenio_relaxed_subqs.owl OMIM:607140 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000805 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0002983 biolink:NamedThing phenio_relaxed_subqs.owl DOID:979 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_363.43 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_86103006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0002985 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003143 biolink:NamedThing angiokeratoma A vascular lesion in the papillary dermis resulting from ectasia of pre-existing vessels. It is associated with secondary proliferative changes in the overlying epidermis (hyperkeratosis). It can present with widespread lesions (angiokeratoma corporis diffusum, often associated with inborn errors of metabolism) or as a localized lesion (angiokeratoma of Fordyce, angiokeratoma circumscriptum, and angiokeratoma of Mibelli). phenio_relaxed_subqs.owl UMLS:C0346075 biolink:NamedThing phenio_relaxed_subqs.owl DOID:479 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000794 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002192 biolink:NamedThing vulvar angiokeratoma An uncommon benign lesion in the vulva. It manifests with multiple papular lesions which are purple in color. They are usually asymptomatic. Histologically, there is hyperkeratosis, papillomatosis, and dilated blood vessels in the papillary dermis. phenio_relaxed_subqs.owl MONDO:0003712 biolink:NamedThing angiokeratoma of mibelli phenio_relaxed_subqs.owl MONDO:0003713 biolink:NamedThing angiokeratoma circumscriptum phenio_relaxed_subqs.owl MONDO:0003954 biolink:NamedThing angiokeratoma of Fordyce An angiokeratoma that is located on the scrotum or vulva. phenio_relaxed_subqs.owl MONDO:0020597 biolink:NamedThing angiokeratoma of scrotum An angiokeratoma that is located on the scrotum. phenio_relaxed_subqs.owl NCIT:C4488 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254788004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0002986 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010526 biolink:NamedThing Fabry disease Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations. phenio_relaxed_subqs.owl DOID:14499 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000795 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84701 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:301500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_16652001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:324 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0002989 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001939 biolink:NamedThing skin epithelioid hemangioma A hemangioma arising from the skin. It is characterized by the presence of epithelioid endothelial cells. phenio_relaxed_subqs.owl DOID:14308 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7393 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_400131007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001424 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0003047 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005583 biolink:NamedThing non-human animal disease A disease that occurs in animals. phenio_relaxed_subqs.owl OBO:MESH_D000820 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002680 biolink:NamedThing chronic wasting disease A transmissible spongiform encephalopathy (prion disease) of deer and elk characterized by chronic weight loss leading to death. It is thought to spread by direct contact between animals or through environmental contamination with the prion protein (prions). phenio_relaxed_subqs.owl MONDO:0005120 biolink:NamedThing Drosophila C virus infection A virus infection induced by Drosophila C virus (DCV) which is a positive-sense RNA virus belonging to the Dicistroviridae family. This natural pathogen of the model organism Drosophila melanogaster is commonly used to investigate antiviral host-defense in flies, which involves both RNA interference and inducible responses. phenio_relaxed_subqs.owl MONDO:0005581 biolink:NamedThing AVL induced bursal lymphoma Malignant lymphoma of the bursa of Fabricius, induced by avian leukosis virus occuring in birds. phenio_relaxed_subqs.owl MONDO:0005675 biolink:NamedThing border disease Congenital disorder of lambs caused by a virus closely related to or identical with certain strains of bovine viral diarrhea virus. phenio_relaxed_subqs.owl MONDO:0005679 biolink:NamedThing bovine virus diarrhea-mucosal disease Acute disease of cattle caused by the bovine viral diarrhea viruses (diarrhea viruses, bovine viral). Often mouth ulcerations are the only sign but fever, diarrhea, drop in milk yield, and loss of appetite are also seen. Severity of clinical disease varies and is strain dependent. Outbreaks are characterized by low morbidity and high mortality. phenio_relaxed_subqs.owl MONDO:0005734 biolink:NamedThing dourine A disease of horses and donkeys caused by Trypanosoma equiperdum. The disease occurs in Africa, the Americas, and Asia. phenio_relaxed_subqs.owl MONDO:0005748 biolink:NamedThing enzootic pneumonia of calves Chronic endemic respiratory disease of dairy calves and an important component of bovine respiratory disease complex. It primarily affects calves up to six months of age and the etiology is multifactorial. Stress plus a primary viral infection is followed by a secondary bacterial infection. The latter is most commonly associated with pasteurella multocida producing a purulent bronchopneumonia. Sometimes present are mannheimia haemolytica; haemophilus somnus and mycoplasma species. phenio_relaxed_subqs.owl MONDO:0005750 biolink:NamedThing ephemeral fever An Ephemerovirus infection of cattle caused by bovine ephemeral fever virus (ephemeral fever virus, bovine). It is characterized by respiratory symptoms, increased oropharyngeal secretions and lacrimation, joint pains, tremor, and stiffness. phenio_relaxed_subqs.owl MONDO:0005755 biolink:NamedThing equine infectious anemia Viral disease of horses caused by the equine infectious anemia virus (eiav; infectious anemia virus, equine). It is characterized by intermittent fever, weakness, and anemia. Chronic infection consists of acute episodes with remissions. phenio_relaxed_subqs.owl MONDO:0005765 biolink:NamedThing foot and mouth disease A viral infectious disease that results in infection in cattle and swine, has material basis in foot-and-mouth disease virus, which is transmitted by contaminated fomites, or transmitted by ingestion of food contaminated with infected meat or animal products. The infection results in formation of vesicles in the mouth, or on the feet and has symptom lameness. phenio_relaxed_subqs.owl MONDO:0005809 biolink:NamedThing infectious ectromelia A viral infection of mice, causing edema and necrosis followed by limb loss. phenio_relaxed_subqs.owl MONDO:0005811 biolink:NamedThing infectious myxomatosis A viral infectious disease that results in infection located in eyes or located in upper respiratory tract of domestic rabbits, has material basis in Myxoma virus, which is transmitted by mosquitos, transmitted by biting flies or transmitted by direct contact. The infection has symptom conjunctivitis with a milky discharge from the inflamed eye and has symptom breathing difficulties. phenio_relaxed_subqs.owl MONDO:0005829 biolink:NamedThing louping ill An acute tick-borne arbovirus infection causing meningoencephalomyelitis of sheep. phenio_relaxed_subqs.owl MONDO:0005908 biolink:NamedThing peste des petits ruminants infectious disease A highly fatal contagious disease of goats and sheep caused by peste-des-petits-ruminants virus. The disease may be acute or subacute and is characterized by stomatitis, conjunctivitis, diarrhea, and pneumonia. phenio_relaxed_subqs.owl MONDO:0006013 biolink:NamedThing visna disease Demyelinating leukoencephalomyelitis of sheep caused by the visna-maedi virus. It is similar to but not the same as scrapie. phenio_relaxed_subqs.owl MONDO:0006051 biolink:NamedThing postweaning multisystemic wasting syndrome Pig disease caused by porcine circovirus type 2 (PCV2). Most representative symptoms include wasting, unthriftness, paleness of the skin, respiratory distress, diarrhea and sometimes icterus. phenio_relaxed_subqs.owl MONDO:0006747 biolink:NamedThing enterotoxemia Disease caused by the liberation of exotoxins of clostridium perfringens in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces 'struck', and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease. phenio_relaxed_subqs.owl MONDO:0006780 biolink:NamedThing heartwater disease A tick-borne septicemic disease of domestic and wild ruminants caused by ehrlichia ruminantium. phenio_relaxed_subqs.owl MONDO:0006979 biolink:NamedThing steatitis A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of 'ceroid' pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed) phenio_relaxed_subqs.owl MONDO:0020764 biolink:NamedThing Brown-Pearce carcinoma phenio_relaxed_subqs.owl MONDO:0024905 biolink:NamedThing bird disease Diseases of birds not considered poultry, therefore usually found in zoos, parks, and the wild. The concept is differentiated from poultry diseases which is for birds raised as a source of meat or eggs for human consumption, and usually found in barnyards, hatcheries, etc. phenio_relaxed_subqs.owl MONDO:0024912 biolink:NamedThing cat disease Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as cheetahs; lions; tigers, cougars, panthers, leopards, and other Felidae for which the heading carnivora is used. phenio_relaxed_subqs.owl MONDO:0024913 biolink:NamedThing cattle disease Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus. phenio_relaxed_subqs.owl MONDO:0024919 biolink:NamedThing dog disease Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, wolves; foxes; and other Canidae for which the heading carnivora is used. phenio_relaxed_subqs.owl MONDO:0024934 biolink:NamedThing fish disease Diseases of freshwater, marine, hatchery or aquarium fish. This term includes diseases of both teleosts (true fish) and elasmobranchs (sharks, rays and skates). phenio_relaxed_subqs.owl MONDO:0024935 biolink:NamedThing foot rot A disease of the horny parts and of the adjacent soft structures of the feet of cattle, swine, and sheep. It is usually caused by Corynebacterium pyogenes or Bacteroides nodosus (see dichelobacter nodosus). It is also known as interdigital necrobacillosis. (From Black's Veterinary Dictionary, 18th ed) phenio_relaxed_subqs.owl MONDO:0024945 biolink:NamedThing hepatitis, non-human animal Inflammation of the liver in non-human animals. phenio_relaxed_subqs.owl MONDO:0024950 biolink:NamedThing horse disease Diseases of domestic and wild horses of the species Equus caballus. phenio_relaxed_subqs.owl MONDO:0024953 biolink:NamedThing lameness, non-human animal A departure from the normal gait in animals. phenio_relaxed_subqs.owl MONDO:0024965 biolink:NamedThing muscular dystrophy, non-human animal phenio_relaxed_subqs.owl MONDO:0024969 biolink:NamedThing parasitic disease, non-human animal Infections or infestations with parasitic organisms. The infestation may be experimental or veterinary. phenio_relaxed_subqs.owl MONDO:0024971 biolink:NamedThing parturient paresis A disease of pregnant and lactating cows and ewes leading to generalized paresis and death. The disease, which is characterized by hypocalcemia, occurs at or shortly after parturition in cows and within weeks before or after parturition in ewes. phenio_relaxed_subqs.owl MONDO:0024981 biolink:NamedThing rodent disease Diseases of rodents of the order rodentia. This term includes diseases of Sciuridae (squirrels), Geomyidae (gophers), Heteromyidae (pouched mice), Castoridae (beavers), Cricetidae (rats and mice), Muridae (Old World rats and mice), Erethizontidae (porcupines), and Caviidae (guinea pigs). phenio_relaxed_subqs.owl MONDO:0024982 biolink:NamedThing salmonella infections, animal Infections in animals with bacteria of the genus salmonella. phenio_relaxed_subqs.owl MONDO:0024985 biolink:NamedThing sheep disease Diseases of domestic and mountain sheep of the genus Ovis. phenio_relaxed_subqs.owl MONDO:0024990 biolink:NamedThing swine disease Diseases of domestic swine and of the wild boar of the genus Sus. phenio_relaxed_subqs.owl MONDO:0025003 biolink:NamedThing goat disease Diseases of the domestic or wild goat of the genus Capra. phenio_relaxed_subqs.owl MONDO:0025013 biolink:NamedThing non-human primate disease Diseases of animals within the order primates. This term includes diseases of Haplorhini and Strepsirhini. phenio_relaxed_subqs.owl MONDO:0025028 biolink:NamedThing vesicular stomatitis A viral disease caused by at least two distinct species (serotypes) in the vesiculovirus genus: vesicular stomatitis indiana virus and vesicular stomatitis new jersey virus. It is characterized by vesicular eruptions on the oral mucosa in cattle, horses, pigs, and other animals. In humans, vesicular stomatitis causes an acute influenza-like illness. phenio_relaxed_subqs.owl MONDO:0025030 biolink:NamedThing digital dermatitis in cattle Highly contagious infectious dermatitis with lesions near the interdigital spaces usually in cattle. It causes discomfort and often severe lameness (lameness, animal). Lesions can be either erosive or proliferative and wart-like with papillary growths and hypertrophied hairs. dichelobacter nodosus and treponema are the most commonly associated causative agents for this mixed bacterial infection disease. phenio_relaxed_subqs.owl MONDO:0025431 biolink:NamedThing keratoconjunctivitis, infectious Infectious diseases of cattle, sheep, and goats, characterized by blepharospasm, lacrimation, conjunctivitis, and varying degrees of corneal opacity and ulceration. In cattle the causative agent is moraxella (moraxella) bovis; in sheep, mycoplasma; rickettsia; chlamydia; or acholeplasma; in goats, rickettsia. phenio_relaxed_subqs.owl MONDO:0025449 biolink:NamedThing paratuberculosis A chronic gastroenteritis in ruminants caused by mycobacterium avium subspecies paratuberculosis. phenio_relaxed_subqs.owl MONDO:0025459 biolink:NamedThing rinderpest A viral disease of cloven-hoofed animals caused by morbillivirus. It may be acute, subacute, or chronic with the major lesions characterized by inflammation and ulceration of the entire digestive tract. The disease was declared successfully eradicated worldwide in 2010. phenio_relaxed_subqs.owl MONDO:0025478 biolink:NamedThing venereal tumors, veterinary Tumors most commonly seen on or near the genitalia. They are venereal, most likely transmitted through transplantation of cells by contact. Metastases have been reported. Spontaneous regression may occur. phenio_relaxed_subqs.owl MONDO:0025483 biolink:NamedThing mammary neoplasms, animal Tumors or cancer of the mammary gland in animals (mammary glands, animal). phenio_relaxed_subqs.owl MONDO:0025505 biolink:NamedThing mink viral enteritis A highly contagious parvovirus infection in mink, caused by mink enteritis virus or the closely related feline panleukopenia virus or canine parvovirus. Transmission usually occurs by the fecal/oral route. phenio_relaxed_subqs.owl MONDO:0025510 biolink:NamedThing pythiosis A granulomatous disease caused by the aquatic organism pythium insidiosum and occurring primarily in horses, cattle, dogs, cats, fishes, and rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial. phenio_relaxed_subqs.owl MONDO:0044748 biolink:NamedThing anaplasmosis in cattle A disease of cattle caused by parasitization of the red blood cells by bacteria of the genus ANAPLASMA. phenio_relaxed_subqs.owl EFO:0005932 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0003126 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010528 biolink:NamedThing anosmia Loss of or impaired ability to smell. This may be caused by olfactory nerve diseases; paranasal sinus diseases; viral respiratory tract infections; craniocerebral trauma; smoking; and other conditions. phenio_relaxed_subqs.owl OBO:MESH_D000857 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007137 biolink:NamedThing isolated congenital anosmia This syndrome is characterised by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome. phenio_relaxed_subqs.owl MONDO:0100469 biolink:NamedThing anosmia, isolated congenital, X-linked X-linked form of anosmia, isolated congenital. phenio_relaxed_subqs.owl OBO:SCTID_44169009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0003128 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002775 biolink:NamedThing anovulation The absence of ovulation. phenio_relaxed_subqs.owl DOID:3781 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000858 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0003152 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006648 biolink:NamedThing anterior compartment syndrome Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive physical exertion. phenio_relaxed_subqs.owl DOID:3933 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000868 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_12694001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000808 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0003175 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005119 biolink:NamedThing anthrax infection An infection caused by Bacillus anthracis bacteria. It may affect the lungs, gastrointestinal tract, or skin. Patients with lung infection present with fever, headaches, cough, chest pain and shortness of breath. Patients with gastrointestinal infection present with nausea, vomiting and bloody diarrhea. Patients with skin infection develop blisters and ulcers. phenio_relaxed_subqs.owl DOID:7427 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008157 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000881 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000236 biolink:NamedThing oropharyngeal anthrax A anthrax infection that involves the oropharynx. phenio_relaxed_subqs.owl MONDO:0001701 biolink:NamedThing gastrointestinal anthrax An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has material basis in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite. phenio_relaxed_subqs.owl MONDO:0004215 biolink:NamedThing cutaneous anthrax An anthrax disease that results in infection located in skin, has material basis in Bacillus anthracis, which is transmitted by contact with infected animals or animal products. The infection has symptom skin lesion that eventually forms an ulcer with a black center. phenio_relaxed_subqs.owl MONDO:0016595 biolink:NamedThing inhalational anthrax A rare acute systemic infection caused by the inhalation of Bacillus anthracis spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated. phenio_relaxed_subqs.owl NCIT:C84565 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_409498004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000778 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0003177 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7426 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008158 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A22.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_022.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C531621 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_84980006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0003492 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007345 biolink:NamedThing aorta coarctation Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps. phenio_relaxed_subqs.owl OBO:GARD_0005828 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_Q25.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_747.10 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001017 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015445 biolink:NamedThing autosomal dominant coarctation of aorta Autosomal dominant form of aorta coarctation. phenio_relaxed_subqs.owl MONDO:0015446 biolink:NamedThing atypical coarctation of aorta Middle aortic coarctation is a rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta with varying involvement of the visceral and renal arteries that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, lower-limb claudication and that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis). phenio_relaxed_subqs.owl NCIT:C84567 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:120000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_7305005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001267 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1457 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0003499 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008504 biolink:NamedThing supravalvular aortic stenosis SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis. phenio_relaxed_subqs.owl DOID:1929 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000743 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:185500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_268185002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3193 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0003511 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006992 biolink:NamedThing syphilitic aortitis Cardiovascular manifestations of syphilis, an infection of treponema pallidum. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the aorta and the aortic valve. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic aneurysm. phenio_relaxed_subqs.owl OBO:ICD10CM_A52.02 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_093.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_20735004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001206 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0003650 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019496 biolink:NamedThing neuroendocrine neoplasm Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion). phenio_relaxed_subqs.owl UMLS:C0206754 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206284 biolink:NamedThing phenio_relaxed_subqs.owl DOID:169 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018358 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000386 biolink:NamedThing digestive system neuroendocrine tumor, grade 1/2 A well-differentiated neuroendocrine tumor arising from the digestive system. It is characterized by the presence of cells with features similar to those of the normal endocrine cells of the digestive system. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation and hormones. There is mild to moderate nuclear atypia and less than 20 mitoses per 10 HPF. It includes well-differentiated endocrine tumors or carcinoid tumors and well-differentiated endocrine carcinomas. phenio_relaxed_subqs.owl MONDO:0000448 biolink:NamedThing paraganglioma A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases. phenio_relaxed_subqs.owl MONDO:0000540 biolink:NamedThing small intestinal neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. phenio_relaxed_subqs.owl MONDO:0002120 biolink:NamedThing neuroendocrine carcinoma A malignant neuroendocrine neoplasm composed of cells containing secretory granules that stain positive for NSE and chromogranin. The neoplastic cells are often round and form clusters or trabecular sheets. Representative examples are small cell carcinoma, large cell neuroendocrine carcinoma, and Merkel cell carcinoma. phenio_relaxed_subqs.owl MONDO:0002477 biolink:NamedThing prostate neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the prostate gland. This category includes carcinoid tumors and small cell carcinomas. phenio_relaxed_subqs.owl MONDO:0002481 biolink:NamedThing ovarian neuroendocrine neoplasm An epithelial neoplasm with neuroendocrine differentiation that arises from the ovary. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma. phenio_relaxed_subqs.owl MONDO:0002485 biolink:NamedThing breast neuroendocrine neoplasm A neoplasm that arises from the breast and is composed of cells of neuroendocrine origin. Most cases are neuroendocrine carcinomas. Primary carcinoid tumors of the breast are very rare. phenio_relaxed_subqs.owl MONDO:0002882 biolink:NamedThing colon neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the colon. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). phenio_relaxed_subqs.owl MONDO:0002883 biolink:NamedThing intestinal neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the small or large intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). phenio_relaxed_subqs.owl MONDO:0002995 biolink:NamedThing small intestine neuroendocrine tumor, well differentiated, low or intermediate grade A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the small intestine. phenio_relaxed_subqs.owl MONDO:0003111 biolink:NamedThing gastric neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the stomach. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). phenio_relaxed_subqs.owl MONDO:0003504 biolink:NamedThing anal canal neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the anal canal. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). phenio_relaxed_subqs.owl MONDO:0003646 biolink:NamedThing rectum neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the rectum. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). phenio_relaxed_subqs.owl MONDO:0003649 biolink:NamedThing esophageal neuroendocrine tumor A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the esophagus. phenio_relaxed_subqs.owl MONDO:0005105 biolink:NamedThing melanoma A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. phenio_relaxed_subqs.owl MONDO:0005369 biolink:NamedThing carcinoid tumor A slow growing neuroendocrine tumor, composed of uniform, round, or polygonal cells having monotonous, centrally located nuclei and small nucleoli, infrequent mitoses, and no necrosis. The tumor may show a variety of patterns, such as solid, trabecular, and acinar. Electron microscopy shows small secretory granules. Immunohistochemical studies reveal NSE, as well as chromogranin immunoreactivity. Malignant histology (cellular pleomorphism, hyperchromatic nuclei, prominent nucleoli, necrosis, and mitoses) can occasionally be seen. Such cases may have an aggressive clinical course. Gastrointestinal tract and lung are common sites of involvement. phenio_relaxed_subqs.owl MONDO:0005454 biolink:NamedThing lung neuroendocrine neoplasm A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma. phenio_relaxed_subqs.owl MONDO:0006091 biolink:NamedThing appendix neuroendocrine tumor G1 A well differentiated, low grade tumor with neuroendocrine differentiation that arises from the appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. phenio_relaxed_subqs.owl MONDO:0006093 biolink:NamedThing ascending colon neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. phenio_relaxed_subqs.owl MONDO:0006126 biolink:NamedThing cecum neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. phenio_relaxed_subqs.owl MONDO:0006155 biolink:NamedThing colon neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. phenio_relaxed_subqs.owl MONDO:0006162 biolink:NamedThing colorectal neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. phenio_relaxed_subqs.owl MONDO:0006227 biolink:NamedThing gastric neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic. phenio_relaxed_subqs.owl MONDO:0006250 biolink:NamedThing ileal neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. phenio_relaxed_subqs.owl MONDO:0006257 biolink:NamedThing jejunal neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. phenio_relaxed_subqs.owl MONDO:0015062 biolink:NamedThing gastric neuroendocrine tumor, well differentiated, low or intermediate grade A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the stomach. phenio_relaxed_subqs.owl MONDO:0015063 biolink:NamedThing duodenal neuroendocrine tumor, well differentiated, low or intermediate grade A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the duodenum. phenio_relaxed_subqs.owl MONDO:0015064 biolink:NamedThing jejunal neuroendocrine tumor, well differentiated, low or intermediate grade A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the jejunum. phenio_relaxed_subqs.owl MONDO:0015065 biolink:NamedThing ileal neuroendocrine tumor, well differentiated, low or intermediate grade A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the ileum. phenio_relaxed_subqs.owl MONDO:0015066 biolink:NamedThing neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the appendix. phenio_relaxed_subqs.owl MONDO:0015067 biolink:NamedThing neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the colon. phenio_relaxed_subqs.owl MONDO:0015068 biolink:NamedThing neuroendocrine tumor of rectum, well differentiated, low or intermediate grade A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the rectum. phenio_relaxed_subqs.owl MONDO:0015069 biolink:NamedThing neuroendocrine tumor of the anal canal A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the anal canal. phenio_relaxed_subqs.owl MONDO:0015070 biolink:NamedThing laryngeal neuroendocrine neoplasm A benign or malignant neoplasm with neuroendocrine differentiation that arises from the larynx. This category includes paraganglioma, carcinoid tumor, small cell carcinoma, and large cell neuroendocrine carcinoma. phenio_relaxed_subqs.owl MONDO:0015071 biolink:NamedThing middle ear neuroendocrine tumor A neuroendocrine neoplasm that involves the middle ear. phenio_relaxed_subqs.owl MONDO:0018510 biolink:NamedThing small intestine neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the small intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). phenio_relaxed_subqs.owl MONDO:0019963 biolink:NamedThing bronchial endocrine tumor A neuroendocrine neoplasm that involves the bronchus. phenio_relaxed_subqs.owl MONDO:0019964 biolink:NamedThing thymic neuroendocrine tumor Thymic endocrine tumor is a rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid sydrome, respectively. phenio_relaxed_subqs.owl MONDO:0021533 biolink:NamedThing intestinal neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small or large intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. phenio_relaxed_subqs.owl MONDO:0021534 biolink:NamedThing rectal neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. phenio_relaxed_subqs.owl MONDO:0021535 biolink:NamedThing pancreatic neuroendocrine tumor G1 A low grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal or less than 2%. phenio_relaxed_subqs.owl MONDO:0021650 biolink:NamedThing uterine corpus neuroendocrine neoplasm An epithelial neoplasm with neuroendocrine differentiation that arises from the uterine corpus. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma. phenio_relaxed_subqs.owl MONDO:0024500 biolink:NamedThing duodenal neuroendocrine neoplasm A neuroendocrine neoplasm that involves the duodenum. phenio_relaxed_subqs.owl MONDO:0024501 biolink:NamedThing appendix neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the appendix. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). phenio_relaxed_subqs.owl MONDO:0024502 biolink:NamedThing gallbladder neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the gallbladder. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). phenio_relaxed_subqs.owl MONDO:0024503 biolink:NamedThing digestive system neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas). phenio_relaxed_subqs.owl MONDO:0024642 biolink:NamedThing gastric neuroendocrine tumor G2 A well differentiated, intermediate grade tumor with neuroendocrine differentiation that arises from the stomach. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent. phenio_relaxed_subqs.owl MONDO:0025511 biolink:NamedThing inherited neuroendocrine tumor An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl NCIT:C3809 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_255046005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001901 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:877 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0003708 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015304 biolink:NamedThing arachnoiditis Arachnoiditis (ARC) is a chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems. phenio_relaxed_subqs.owl UMLS:C0270617 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12156 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005839 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001100 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008450 biolink:NamedThing spinal arachnoiditis A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor. phenio_relaxed_subqs.owl NCIT:C37913 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_13980006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:137817 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0003723 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020731 biolink:NamedThing arbovirus infection A viral infection that is transmitted by an arthropod. phenio_relaxed_subqs.owl OBO:MESH_D001102 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34396 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_40610006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001269 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0003742 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007150 biolink:NamedThing arcus senilis A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera. phenio_relaxed_subqs.owl DOID:11342 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001112 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:107800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_231924000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000818 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0003810 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0036595 biolink:NamedThing ovarian Sertoli-Leydig cell tumor A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8. phenio_relaxed_subqs.owl MONDO:0020542 biolink:NamedThing malignant Sertoli-Leydig cell tumor of ovary Malignant Sertoli-Leydig cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary occuring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional. phenio_relaxed_subqs.owl NCIT:C2880 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254866007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000429 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0003868 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005393 biolink:NamedThing gout A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals. phenio_relaxed_subqs.owl UMLS:C0018099 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13189 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_M10 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_274.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_274.00 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006073 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34650 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_190828008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0004274 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0003872 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011849 biolink:NamedThing psoriatic arthritis Joint inflammation associated with psoriasis. phenio_relaxed_subqs.owl DOID:9008 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015535 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019436 biolink:NamedThing psoriasis-related juvenile idiopathic arthritis Childhood arthritis typically associated with psoriasis. phenio_relaxed_subqs.owl NCIT:C61277 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_156370009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0003778 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:40050 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0003873 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008383 biolink:NamedThing rheumatoid arthritis A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor. phenio_relaxed_subqs.owl DOID:7148 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_714.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001172 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005185 biolink:NamedThing chronic childhood arthritis An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system. phenio_relaxed_subqs.owl MONDO:0005306 biolink:NamedThing ankylosing spondylitis An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine. phenio_relaxed_subqs.owl MONDO:0007603 biolink:NamedThing Felty syndrome Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections. phenio_relaxed_subqs.owl MONDO:0023249 biolink:NamedThing polyarticular juvenile rheumatoid arthritis phenio_relaxed_subqs.owl MONDO:0043267 biolink:NamedThing rheumatoid vasculitis Necrotizing VASCULITIS of small and medium size vessels, developing as a complication in RHEUMATOID ARTHRITIS patients. It is characterized by peripheral vascular lesions, cutaneous ulcers, peripheral gangrene, and mononeuritis multiplex. phenio_relaxed_subqs.owl NCIT:C2884 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:180300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_69896004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000685 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:284130 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0003886 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008779 biolink:NamedThing arthrogryposis A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth. phenio_relaxed_subqs.owl OBO:MESH_D001176 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007363 biolink:NamedThing congenital contractural arachnodactyly Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. phenio_relaxed_subqs.owl MONDO:0008675 biolink:NamedThing freeman-Sheldon syndrome Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis. phenio_relaxed_subqs.owl MONDO:0021927 biolink:NamedThing arthrogryposis epileptic seizures migrational brain disorder phenio_relaxed_subqs.owl MONDO:0022025 biolink:NamedThing boylan dew greco syndrome phenio_relaxed_subqs.owl MONDO:0022998 biolink:NamedThing distal arthrogryposis Moore weaver type phenio_relaxed_subqs.owl MONDO:0043123 biolink:NamedThing massa casaer ceulemans syndrome phenio_relaxed_subqs.owl NCIT:C84572 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0003857 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0003950 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005654 biolink:NamedThing ascariasis An infection that is caused by the roundworm Ascaris lumbricoides, many cases of which remain asymptomatic. During the transient larval migratory phase, shortness of breath, fever, and eosinophilia can occur. Depending on the intestinal worm burden, a spectrum of gastrointestinal tract symptoms can occur. phenio_relaxed_subqs.owl DOID:456 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B77 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_127.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001196 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128392 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_2435008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007154 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0003952 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005655 biolink:NamedThing ascaridiasis Infection with nematodes of the genus ascaridia. This condition usually occurs in fowl, often manifesting diarrhea. phenio_relaxed_subqs.owl DOID:3108 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001198 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_76160002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007155 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0004030 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005657 biolink:NamedThing aspergillosis Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of aspergillosis is invasive aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain). Aspergilloma, a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess, is a third kind of aspergillosis. This type of aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas. phenio_relaxed_subqs.owl DOID:13564 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005856 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B44 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_117.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001228 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000266 biolink:NamedThing pulmonary aspergilloma A aspergillosis that involves the lung. phenio_relaxed_subqs.owl MONDO:0005873 biolink:NamedThing neuroaspergillosis Infections of the nervous system caused by fungi of the genus aspergillus, most commonly aspergillus fumigatus. Aspergillus infections may occur in immunocompetent hosts, but are more prevalent in individuals with immunologic deficiency syndromes. The organism may spread to the nervous system from focal infections in the lung, mastoid region, sinuses, inner ear, bones, eyes, gastrointestinal tract, and heart. Sinus infections may be locally invasive and enter the intracranial compartment, producing meningitis, fungal; cranial neuropathies; and abscesses in the frontal lobes of the brain. (From Joynt, Clinical Neurology, 1998, Ch 27, pp62-3) phenio_relaxed_subqs.owl MONDO:0015243 biolink:NamedThing allergic bronchopulmonary aspergillosis Allergic bronchopulmonary aspergillosis (ABPA) is a rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates. phenio_relaxed_subqs.owl MONDO:0021935 biolink:NamedThing aspergillus niger infection A infectious disease involving the Aspergillus niger. phenio_relaxed_subqs.owl NCIT:C2886 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_65553006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007157 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1163 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0004031 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13166 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000602 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B44.81 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_518.6 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001229 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002266 biolink:NamedThing malt worker's lung An extrinsic allergic alveolitis caused by infection with Aspergillus. phenio_relaxed_subqs.owl NCIT:C84547 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:103920 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_37981002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007140 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1164 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0004135 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008840 biolink:NamedThing ataxia telangiectasia Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer. phenio_relaxed_subqs.owl DOID:12704 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005862 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001260 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008841 biolink:NamedThing ataxia-telangiectasia with generalized skin pigmentation and early death phenio_relaxed_subqs.owl NCIT:C2887 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:208900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_68504005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0004245 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000465 biolink:NamedThing atrioventricular block A heart block that is initiated in the atrioventricular node. phenio_relaxed_subqs.owl DOID:0050820 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_426.10 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D054537 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000466 biolink:NamedThing first-degree atrioventricular block A disorder characterized by an electrocardiographic finding of prolonged PR interval for a specific population. For adults one common threshold is a PR interval greater than 0.20 seconds. phenio_relaxed_subqs.owl MONDO:0000467 biolink:NamedThing second-degree atrioventricular block Intermittent failure of atrial electrical impulse conduction to the ventricles. phenio_relaxed_subqs.owl MONDO:0000468 biolink:NamedThing third-degree atrioventricular block A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC) phenio_relaxed_subqs.owl MONDO:0009326 biolink:NamedThing congenital heart block Heart block that occurs on or before 28 days of life. phenio_relaxed_subqs.owl OBO:SCTID_233917008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0004421 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0025381 biolink:NamedThing avian leukosis A group of transmissible viral diseases of chickens and turkeys. Liver tumors are found in most forms, but tumors can be found elsewhere. phenio_relaxed_subqs.owl OBO:MESH_D001353 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0004576 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005661 biolink:NamedThing babesiosis Babesiosis refers to a condition caused by microscopic parasites that infect the red blood cells. Many people who are infected with Babesia parasites do not experience any symptoms of the condition. When present, signs and symptoms may include flu-like symptoms such as fever, chills, headache, body aches, nausea and fatigue. In severe cases, babesiosis can be associated with hemolytic anemia. Babesia parasites are primarily spread by infected ticks. Treatment is generally only required in people who develop symptoms of the condition. When necessary, affected people are often prescribed a combination of antimicrobial medications along with supportive care to manage symptoms. phenio_relaxed_subqs.owl DOID:9643 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005878 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B60.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_088.82 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001404 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84581 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_21061004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007162 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:108 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0004606 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001661 biolink:NamedThing background diabetic retinopathy An early stage of diabetic retinopathy that is characterized by retinal hemorrhage and exudate, but without proliferation of the blood vessels. phenio_relaxed_subqs.owl DOID:13208 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_362.01 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_362.03 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004687 biolink:NamedThing severe nonproliferative diabetic retinopathy phenio_relaxed_subqs.owl NCIT:C35668 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_390834004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0004610 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005229 biolink:NamedThing bacterial infectious disease with sepsis An infectious disease caused by bacteria causing sepsis. phenio_relaxed_subqs.owl DOID:0040085 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016470 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005767 biolink:NamedThing gas gangrene A severe condition resulting from bacteria invading healthy muscle from adjacent traumatized muscle or soft tissue. The infection originates in a wound contaminated with bacteria of the genus clostridium. C. perfringens accounts for the majority of cases (over eighty percent), while C. noyvi, C. septicum, and C. histolyticum cause most of the other cases. phenio_relaxed_subqs.owl MONDO:0006893 biolink:NamedThing Pasteurella hemorrhagic septicemia Any of several bacterial diseases, usually caused by pasteurella multocida, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans. phenio_relaxed_subqs.owl MONDO:0015306 biolink:NamedThing Lemierre syndrome Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis. phenio_relaxed_subqs.owl MONDO:0042972 biolink:NamedThing meningococcemia phenio_relaxed_subqs.owl OBO:SCTID_5758002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0003033 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0004623 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005113 biolink:NamedThing bacterial infectious disease An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections. phenio_relaxed_subqs.owl DOID:104 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_041.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001424 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000314 biolink:NamedThing primary bacterial infectious disease phenio_relaxed_subqs.owl MONDO:0000315 biolink:NamedThing commensal bacterial infectious disease A bacterial infectious disease that results in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder. phenio_relaxed_subqs.owl MONDO:0000316 biolink:NamedThing opportunistic bacterial infectious disease phenio_relaxed_subqs.owl MONDO:0000409 biolink:NamedThing chorioamnionitis A morphologic finding indicating inflammation of the fetal sac membranes. It is characterized by neutrophilic infiltration of the amnion and chorion. phenio_relaxed_subqs.owl MONDO:0000705 biolink:NamedThing Clostridium difficile colitis A bacterial infection of the colon secondary to infection with Clostridium difficile bacteria. This infection generally results from the loss of normal gut flora secondary to recent antibiotic use, and manifests as copious watery stools, with associated abdominal pain and myalgia. C. difficile is the most common cause of pseudomembranous colitis, and can progress to toxic megacolon if left untreated. phenio_relaxed_subqs.owl MONDO:0002842 biolink:NamedThing bacterial gastritis Gastritis resulting from bacteria. phenio_relaxed_subqs.owl MONDO:0004471 biolink:NamedThing bacterial arthritis The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint. phenio_relaxed_subqs.owl MONDO:0004652 biolink:NamedThing bacterial pneumonia Acute infection of the lung parenchyma caused by bacteria (e.g., Streptococcus pneumoniae, Haemophilus influenzae, Chlamydia pneumoniae, Mycoplasma pneumoniae, and Legionella pneumophila). Signs and symptoms include productive cough, fever, chills, shortness of breath, and chest pain. phenio_relaxed_subqs.owl MONDO:0005116 biolink:NamedThing Whipple disease A systemic infection caused by the Gram-positive bacterium Tropheryma whipplei. It affects the small intestine resulting in malabsorption. Other sites or systems affected by the infection are the joints, central nervous system, and the cardiovascular system. phenio_relaxed_subqs.owl MONDO:0005117 biolink:NamedThing Aeromonas hydrophila infectious disease Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria. phenio_relaxed_subqs.owl MONDO:0005121 biolink:NamedThing Enterococcus faecalis infection A bacterial infection induced by Enterococcus faecalis which is the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens. phenio_relaxed_subqs.owl MONDO:0005122 biolink:NamedThing Pectobacterium carotovorum infection A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as "bacterial soft rot" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30°C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens – Fe acquisition, LPS integrity, multiple global regulatory systems). phenio_relaxed_subqs.owl MONDO:0005141 biolink:NamedThing Pseudomonas infection Infections with bacteria of the genus pseudomonas. phenio_relaxed_subqs.owl MONDO:0005195 biolink:NamedThing septic peritonitis Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis. phenio_relaxed_subqs.owl MONDO:0005242 biolink:NamedThing empyema An accumulation of pus in a body cavity, usually the pleural space. phenio_relaxed_subqs.owl MONDO:0005247 biolink:NamedThing bacterial urinary tract infection A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine. phenio_relaxed_subqs.owl MONDO:0005323 biolink:NamedThing bacterial sexually transmitted disease Bacterial diseases that are potentially transmitted or propagated by sexual conduct. phenio_relaxed_subqs.owl MONDO:0005373 biolink:NamedThing meningococcal infection Infections with bacteria of the species neisseria meningitidis. phenio_relaxed_subqs.owl MONDO:0005901 biolink:NamedThing pasteurellosis Infections with bacteria of the genus pasteurella. phenio_relaxed_subqs.owl MONDO:0005925 biolink:NamedThing pneumonic pasteurellosis Bovine respiratory disease found in animals that have been shipped or exposed to cattle recently transported. The major agent responsible for the disease is mannheimia haemolytica and less commonly, pasteurella multocida or haemophilus somnus. All three agents are normal inhabitants of the bovine nasal pharyngeal mucosa but not the lung. They are considered opportunistic pathogens following stress, physiological and/or a viral infection. The resulting bacterial fibrinous bronchopneumonia is often fatal. phenio_relaxed_subqs.owl MONDO:0005990 biolink:NamedThing tracheitis A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions. phenio_relaxed_subqs.owl MONDO:0006636 biolink:NamedThing Actinobacillus infectious disease Infections with bacteria of the genus actinobacillus. phenio_relaxed_subqs.owl MONDO:0006668 biolink:NamedThing bacterial conjunctivitis Inflammation of the conjunctiva caused by a variety of bacterial agents. phenio_relaxed_subqs.owl MONDO:0006669 biolink:NamedThing bacterial endocarditis Endocarditis that is caused by an infection with a bacterial agent. phenio_relaxed_subqs.owl MONDO:0006670 biolink:NamedThing bacterial meningitis Inflammation of the membranes surrounding the brain and spinal cord due to a bacterial infection. phenio_relaxed_subqs.owl MONDO:0006706 biolink:NamedThing Bifidobacteriales infectious disease Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae. phenio_relaxed_subqs.owl MONDO:0006926 biolink:NamedThing haemophilus infectious disease Infections with bacteria of the genus haemophilus. phenio_relaxed_subqs.owl MONDO:0006929 biolink:NamedThing Proteus infectious disease Infections with bacteria of the genus proteus. phenio_relaxed_subqs.owl MONDO:0006937 biolink:NamedThing pulpitis Inflammation of the dental pulp. phenio_relaxed_subqs.owl MONDO:0006941 biolink:NamedThing rat-bite fever An infectious disease that is caused transmitted by the bite of a rat. Two species of bacteria can cause the infection: Streptobacillus moniliformis and Spirillum minus. phenio_relaxed_subqs.owl MONDO:0006956 biolink:NamedThing Rickettsiosis A group of infectious diseases that is caused by Rickettsia. phenio_relaxed_subqs.owl MONDO:0007014 biolink:NamedThing vibrio infectious disease Infections with bacteria of the genus vibrio. phenio_relaxed_subqs.owl MONDO:0007023 biolink:NamedThing Yersinia infectious disease Infections with bacteria of the genus yersinia. phenio_relaxed_subqs.owl MONDO:0016127 biolink:NamedThing bacterial myositis phenio_relaxed_subqs.owl MONDO:0017124 biolink:NamedThing noma Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face. phenio_relaxed_subqs.owl MONDO:0018111 biolink:NamedThing idiopathic severe pneumococcemia phenio_relaxed_subqs.owl MONDO:0018602 biolink:NamedThing necrotizing soft tissue infection phenio_relaxed_subqs.owl MONDO:0019377 biolink:NamedThing Mycoplasma encephalitis Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis). phenio_relaxed_subqs.owl MONDO:0020590 biolink:NamedThing mycobacterial infectious disease Infection due to organisms from the genus Mycobacteria. phenio_relaxed_subqs.owl MONDO:0020920 biolink:NamedThing escherichia coli infection Infection with the organism Escherichia Coli. phenio_relaxed_subqs.owl MONDO:0021678 biolink:NamedThing gram-negative bacterial infections Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method. phenio_relaxed_subqs.owl MONDO:0021679 biolink:NamedThing gram-positive bacterial infections Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method. phenio_relaxed_subqs.owl MONDO:0021839 biolink:NamedThing spirochaetales infections Infections with bacteria of the order SPIROCHAETALES. phenio_relaxed_subqs.owl MONDO:0024295 biolink:NamedThing skin disease caused by bacterial infection Skin diseases caused by bacteria. phenio_relaxed_subqs.owl MONDO:0024313 biolink:NamedThing staphylococcal infection An infection caused by Staphylococcus. phenio_relaxed_subqs.owl MONDO:0024389 biolink:NamedThing anaerobic bacteria infectious disease phenio_relaxed_subqs.owl MONDO:0030603 biolink:NamedThing Klebsiella infectious disease Infections with bacteria of the genus KLEBSIELLA. phenio_relaxed_subqs.owl MONDO:0043352 biolink:NamedThing fournier gangrene An acute necrotic infection of the SCROTUM; PENIS; or PERINEUM. It is characterized by scrotum pain and redness with rapid progression to gangrene and sloughing of tissue. Fournier gangrene is usually secondary to perirectal or periurethral infections associated with local trauma, operative procedures, or urinary tract disease. phenio_relaxed_subqs.owl MONDO:0044746 biolink:NamedThing zoonotic bacterial infection A bacterial infection that is transmitted from animals to people. phenio_relaxed_subqs.owl MONDO:0400006 biolink:NamedThing botryomycosis A rare chronic suppurative bacterial infection involving mostly subcutaneous tissues and less frequently other organs. Botryomycosis is mostly caused by Staphylococcus aureus, Escherichia coli and Pseudomonas aeruginosa but the exact pathogenesis remains uncertain. Treatment often requires a combination of both surgical debridement and long-term antimicrobial therapy. phenio_relaxed_subqs.owl MONDO:0600003 biolink:NamedThing bacterial hemorrhagic fever A hemorrhagic fever caused by bacteria. Bacterial hemorrhagic disease is rare. One example of a bacterial hemorrhagic disease is scrub typhus. phenio_relaxed_subqs.owl NCIT:C2890 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_87628006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000771 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0004626 biolink:NamedThing phenio_relaxed_subqs.owl DOID:874 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_482.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018410 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004649 biolink:NamedThing anaerobic pneumonia A pneumonia caused by anaerobic bacteria. phenio_relaxed_subqs.owl MONDO:0005824 biolink:NamedThing Legionnaires' disease A pneumonia caused by Legionella pneumophila and other Legionella species, which is characterized by fever, cough, progressive respiratory distress, and which is often accompanied by extrapulmonary manifestations. phenio_relaxed_subqs.owl MONDO:0005867 biolink:NamedThing Mycoplasma pneumoniae pneumonia Interstitial pneumonia caused by extensive infection of the lungs (lung) and bronchi, particularly the lower lobes of the lungs, by mycoplasma pneumoniae in humans. In sheep, it is caused by mycoplasma ovipneumoniae. In cattle, it may be caused by mycoplasma dispar. phenio_relaxed_subqs.owl MONDO:0005970 biolink:NamedThing staphylococcal pneumonia Pneumonia caused by infections with bacteria of the genus staphylococcus, usually with staphylococcus aureus. phenio_relaxed_subqs.owl MONDO:0005972 biolink:NamedThing streptococcal pneumonia A febrile disease caused by streptococcus pneumoniae. phenio_relaxed_subqs.owl MONDO:0025159 biolink:NamedThing pneumonia of swine, mycoplasmal A chronic, clinically mild, infectious pneumonia of pigs caused by mycoplasma hyopneumoniae. Ninety percent of swine herds worldwide are infected with this economically costly disease that primarily affects animals aged two to six months old. The disease can be associated with porcine respiratory disease complex. pasteurella multocida is often found as a secondary infection. phenio_relaxed_subqs.owl MONDO:0030602 biolink:NamedThing Klebsiella pneumonia An pneumonia caused by infection with Klebsiella. phenio_relaxed_subqs.owl MONDO:0041850 biolink:NamedThing pneumonia caused by gram negative bacteria phenio_relaxed_subqs.owl NCIT:C26704 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_53084003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001272 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0004669 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006671 biolink:NamedThing Bacteroides infectious disease Infections with bacteria of the genus bacteroides. phenio_relaxed_subqs.owl OBO:MESH_D001442 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_2918000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000832 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0004692 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005662 biolink:NamedThing balantidiasis Infection by parasites of the genus balantidium. The presence of Balantidium in the large intestine leads to diarrhea; dysentery; and occasionally ulcer. phenio_relaxed_subqs.owl DOID:12386 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000809 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A07.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_007.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001447 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84583 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_57725006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007163 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1223 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0004698 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007416 biolink:NamedThing Balkan nephropathy A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease. phenio_relaxed_subqs.owl UMLS:C4049993 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3052 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008576 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_N15.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001449 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C123025 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:124100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_26121002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007164 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0004771 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005664 biolink:NamedThing bartonellosis An infectious disease produced by bacteria of the genus Bartonella. phenio_relaxed_subqs.owl DOID:11102 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A44 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_088.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001474 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000758 biolink:NamedThing bacillary angiomatosis A condition that is caused by infection with Bartonella, and which is characterized by vascular proliferation, usually in immunocompromised individuals. phenio_relaxed_subqs.owl MONDO:0005692 biolink:NamedThing cat-scratch disease Cat scratch disease is an infectious illness caused by the bacteria bartonella (Bartonella henselae). It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious diseaseis characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Other features may include fatigue, headache, achiness, and fever. Although cat-scratch disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may help speed recovery. phenio_relaxed_subqs.owl MONDO:0005991 biolink:NamedThing trench fever An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by bartonella quintana and transmitted by the human louse. phenio_relaxed_subqs.owl MONDO:0018984 biolink:NamedThing Oroya fever An infection that is caused by Bartonella bacilliformis, which is transmitted to humans from infected sandflies. The acute phase (Oroya fever) is characterized by fever, headache, myalgia, enlargement of the lymph nodes, and anemia. The chronic phase (verruga peruana/Peruvian wart) is characterized by benign, eruptive lesions that are bleeding and pruritic, arthralgia, and malaise. phenio_relaxed_subqs.owl NCIT:C84586 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_266123003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007166 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0004773 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006924 biolink:NamedThing Bartonellaceae infectious disease Infections with bacteria of the family bartonellaceae. phenio_relaxed_subqs.owl OBO:MESH_D001476 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001125 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0004775 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015231 biolink:NamedThing Bartter syndrome Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. phenio_relaxed_subqs.owl UMLS:C0085570 biolink:NamedThing phenio_relaxed_subqs.owl DOID:445 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005893 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_255.13 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001477 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009424 biolink:NamedThing Bartter disease type 2 Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene. phenio_relaxed_subqs.owl MONDO:0010503 biolink:NamedThing Bartter disease type 5 Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene. phenio_relaxed_subqs.owl MONDO:0011242 biolink:NamedThing Bartter disease type 4a Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene. phenio_relaxed_subqs.owl MONDO:0011822 biolink:NamedThing Bartter disease type 3 Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. phenio_relaxed_subqs.owl MONDO:0016983 biolink:NamedThing Bartter syndrome with hypocalcemia Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH) phenio_relaxed_subqs.owl MONDO:0019524 biolink:NamedThing infantile Bartter syndrome with sensorineural deafness Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II. phenio_relaxed_subqs.owl MONDO:0100343 biolink:NamedThing antenatal Bartter syndrome A phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome. phenio_relaxed_subqs.owl MONDO:0100344 biolink:NamedThing Bartter disease type 1 phenio_relaxed_subqs.owl NCIT:C34412 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_601678 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_707742001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:112 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0004779 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007187 biolink:NamedThing nevoid basal cell carcinoma syndrome A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities. phenio_relaxed_subqs.owl DOID:2512 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007166 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001478 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C2892 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:109400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_69408002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:377 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0004812 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002250 biolink:NamedThing basilar artery insufficiency A syndrome which occurs as a result of the occlusion of the basilar artery. It may be caused by atherosclerosis, embolism or hemorrhage. Clinical signs include dizziness, headache, vomiting, hemiparesis or hemiplegia, dysarthria, dysphagia, blurred vision and loss of consciousness. The clinical course is variable and is dependent upon the extent of the occlusion and the location of the clot along the basilar artery which determines the resultant neurologic impairment. Prognosis is dismal in cases where a complete occlusion occurs with rapid deterioration of neurological function. phenio_relaxed_subqs.owl DOID:223 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_435.0 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34413 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_64009001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0004903 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007534 biolink:NamedThing Beckwith-Wiedemann syndrome Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations. phenio_relaxed_subqs.owl DOID:5572 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003343 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001506 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016475 biolink:NamedThing Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 phenio_relaxed_subqs.owl MONDO:0016476 biolink:NamedThing Beckwith-Wiedemann syndrome due to CDKN1C mutation phenio_relaxed_subqs.owl MONDO:0016477 biolink:NamedThing Beckwith-Wiedemann syndrome due to 11p15 microdeletion phenio_relaxed_subqs.owl MONDO:0016478 biolink:NamedThing Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion phenio_relaxed_subqs.owl MONDO:0016547 biolink:NamedThing Beckwith-Wiedemann syndrome due to NSD1 mutation phenio_relaxed_subqs.owl MONDO:0019875 biolink:NamedThing Beckwith-Wiedemann syndrome due to 11p15 microduplication phenio_relaxed_subqs.owl MONDO:0019923 biolink:NamedThing Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 phenio_relaxed_subqs.owl MONDO:0023182 biolink:NamedThing Franceschini Vardeu Guala syndrome phenio_relaxed_subqs.owl NCIT:C34415 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:130650 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_81780002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:116 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0004943 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007191 biolink:NamedThing Behcet disease A chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations. phenio_relaxed_subqs.owl DOID:13241 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000848 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_136.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001528 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34416 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:109650 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_310701003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0003780 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:117 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0004945 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001714 biolink:NamedThing bejel A chronic skin and tissue disease caused by infection by the endemicum subspecies of the spirochete Treponema pallidum. phenio_relaxed_subqs.owl DOID:13431 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005905 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0005122 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006676 biolink:NamedThing beriberi Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. Signs and symptoms of dry beriberi include difficulty walking; loss of feeling in the hands and/or feet; paralysis of the lower legs; mental confusion; speech difficulty; pain; and/or vomiting. Beriberi is rare in the United States since many foods are now vitamin enriched; however, alcohol abuse, dialysis and taking high doses of diuretics increases the risk of developing the condition. In most cases,beriberi occurs sporadically in people with no family history of the condition. A rare condition known as genetic beriberi is inherited (passed down through families) and is associated with an inability to absorb thiamine from foods. Treatment generally includes thiamine supplementation, given by injection or taken by mouth. phenio_relaxed_subqs.owl DOID:0070313 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13725 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009948 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_265.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001602 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024182 biolink:NamedThing dry beriberi phenio_relaxed_subqs.owl MONDO:0024183 biolink:NamedThing wet beriberi phenio_relaxed_subqs.owl NCIT:C34418 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_36656008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000837 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0005129 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009276 biolink:NamedThing Bernard-Soulier syndrome Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination. phenio_relaxed_subqs.owl DOID:2217 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002470 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001606 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007930 biolink:NamedThing Bernard-Soulier syndrome, type A2, autosomal dominant A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p. phenio_relaxed_subqs.owl NCIT:C84595 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:231200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234478007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:274 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0005398 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006757 biolink:NamedThing extrahepatic cholestasis Impairment of the bile flow caused by an obstruction in the portion of the bile duct system located outside of the liver. phenio_relaxed_subqs.owl DOID:13619 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001651 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0043330 biolink:NamedThing Mirizzi syndrome Complication of cholelithiasis characterized by obstructive jaundice; abdominal pain, and fever. phenio_relaxed_subqs.owl OBO:SCTID_8262006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000933 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0005411 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008867 biolink:NamedThing biliary atresia A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool. phenio_relaxed_subqs.owl DOID:13608 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012010 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_751.61 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001656 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0022573 biolink:NamedThing biliary atresia intrahepatic non syndromic form phenio_relaxed_subqs.owl MONDO:0022574 biolink:NamedThing biliary atresia intrahepatic syndromic form phenio_relaxed_subqs.owl MONDO:0034661 biolink:NamedThing syndromic biliary atresia phenio_relaxed_subqs.owl MONDO:0100285 biolink:NamedThing extrahepatic biliary atresia A disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow. phenio_relaxed_subqs.owl NCIT:C34421 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_77480004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:30391 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0005416 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005667 biolink:NamedThing biliary dyskinesia A motility disorder characterized by biliary colic, absence of gallstones, and an abnormal gallbladder ejection fraction. It is caused by gallbladder dyskinesia and/or sphincter of oddi dysfunction. phenio_relaxed_subqs.owl DOID:4140 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001657 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_197432008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007169 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0005586 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004985 biolink:NamedThing bipolar disorder A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression. phenio_relaxed_subqs.owl DOID:3312 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_F31 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10WHO_F31 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_296.80 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001714 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000693 biolink:NamedThing bipolar II disorder A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes. phenio_relaxed_subqs.owl MONDO:0001866 biolink:NamedThing bipolar I disorder A bipolar disorder that is characterized by at least one manic or mixed episode. phenio_relaxed_subqs.owl MONDO:0007440 biolink:NamedThing major affective disorder 1 phenio_relaxed_subqs.owl MONDO:0012319 biolink:NamedThing major affective disorder 3 phenio_relaxed_subqs.owl MONDO:0012642 biolink:NamedThing major affective disorder 4 phenio_relaxed_subqs.owl MONDO:0012685 biolink:NamedThing major affective disorder 5 phenio_relaxed_subqs.owl MONDO:0012686 biolink:NamedThing major affective disorder 6 phenio_relaxed_subqs.owl MONDO:0012877 biolink:NamedThing major affective disorder 8 phenio_relaxed_subqs.owl MONDO:0012881 biolink:NamedThing major affective disorder 7 phenio_relaxed_subqs.owl MONDO:0012882 biolink:NamedThing major affective disorder 9 phenio_relaxed_subqs.owl MONDO:0024612 biolink:NamedThing manic bipolar affective disorder The manic phase of bipolar disorder. phenio_relaxed_subqs.owl MONDO:0024613 biolink:NamedThing bipolar depression The depressive stage of bipolar disorder. phenio_relaxed_subqs.owl NCIT:C34423 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_13746004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000289 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0005591 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001715 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0025095 biolink:NamedThing malaria, avian Any of a group of infections of fowl caused by protozoa of the genera plasmodium, Leucocytozoon, and Haemoproteus. The life cycles of these parasites and the disease produced bears strong resemblance to those observed in human malaria. phenio_relaxed_subqs.owl MONDO:0025113 biolink:NamedThing poultry disease Diseases of birds which are raised as a source of meat or eggs for human consumption and are usually found in barnyards, hatcheries, etc. The concept is differentiated from bird diseases which is for diseases of birds not considered poultry and usually found in zoos, parks, and the wild. phenio_relaxed_subqs.owl MONDO:0025135 biolink:NamedThing tuberculosis, avian A variety of tuberculosis affecting various birds, including chickens and ducks. It is caused by mycobacterium avium and characterized by tubercles consisting principally of epithelioid cells. phenio_relaxed_subqs.owl MONDO:0025167 biolink:NamedThing reticuloendotheliosis, avian A group of pathologic syndromes found in avian species caused by reticuloendotheliosis virus. The distinct syndromes include non-neoplastic runting, acute neoplastic disease, and chronic neoplastic disease. Humans and mammals appear resistant. phenio_relaxed_subqs.owl MONDO:0025382 biolink:NamedThing sarcoma, avian Connective tissue tumors, affecting primarily fowl, that are usually caused by avian sarcoma viruses. phenio_relaxed_subqs.owl MONDO:0025417 biolink:NamedThing fowlpox A poxvirus infection of poultry and other birds characterized by the formation of wart-like nodules on the skin and diphtheritic necrotic masses (cankers) in the upper digestive and respiratory tracts. phenio_relaxed_subqs.owl UMLS:C0005681 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005670 biolink:NamedThing blackwater fever A complication of malaria resulting from hemolysis. phenio_relaxed_subqs.owl DOID:14068 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_084.8 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001742 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34426 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_56625005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007172 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0005716 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005672 biolink:NamedThing blastomycosis Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body.The infection may affect the skin, bones and joints, and other areas. The disease usually affects people with weakened immune systems, such as those with HIV or who have had an organ transplant. phenio_relaxed_subqs.owl UMLS:C0005717 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12663 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005931 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B40 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001759 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34429 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_191950004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007174 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0005859 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008876 biolink:NamedThing Bloom syndrome Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer. phenio_relaxed_subqs.owl DOID:2717 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000915 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001816 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C2903 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:210900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_4434006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:125 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0005866 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0025385 biolink:NamedThing bluetongue A reovirus infection, chiefly of sheep, characterized by a swollen blue tongue, catarrhal inflammation of upper respiratory and gastrointestinal tracts, and often by inflammation of sensitive laminae of the feet and coronet. phenio_relaxed_subqs.owl OBO:MESH_D001819 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0006008 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001882 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007177 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0006015 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0037872 biolink:NamedThing bordetellosis Any disease caused by infection with organisms of the genus Bordetella. phenio_relaxed_subqs.owl OBO:MESH_D001885 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001353 biolink:NamedThing Bordetella parapertussis infectious disease Any disease caused by infection with by Bordetella parapertussis. The symptoms are similar but less severe than Bordetella pertussis whooping cough. phenio_relaxed_subqs.owl MONDO:0005077 biolink:NamedThing pertussis A contagious bacterial respiratory infection caused by Bordetella pertussis. It is characterized by severe and uncontrollable cough, resulting in a whooping sound during breathing following the cough. phenio_relaxed_subqs.owl OBO:SCTID_26484003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001275 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0006023 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005676 biolink:NamedThing borna disease An encephalomyelitis of horses, sheep and cattle caused by borna disease virus. phenio_relaxed_subqs.owl DOID:5154 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001890 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007178 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0006035 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006681 biolink:NamedThing Borrelia infectious disease Infections with bacteria of the genus borrelia. phenio_relaxed_subqs.owl OBO:MESH_D001899 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019633 biolink:NamedThing relapsing fever Relapsing fever is an infection caused by bacteria of the genus Borrelia, excluding those responsible for Lyme disease belonging to the Borrelia burgdorferi complex. phenio_relaxed_subqs.owl EFO:1000842 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0006057 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005498 biolink:NamedThing botulism A serious bacterial infection caused by botulinum toxin which is produced by Clostridium botulinum. Patients are infected usually by ingestion of contaminated food or wound contamination. It leads to muscle paralysis which may result in respiratory failure. phenio_relaxed_subqs.owl DOID:11976 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000943 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001906 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015804 biolink:NamedThing infant botulism A botulism that occurs between 28 days to one year of life.. phenio_relaxed_subqs.owl MONDO:0016453 biolink:NamedThing foodborne botulism Foodborne botulism is the most common form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs. phenio_relaxed_subqs.owl MONDO:0016468 biolink:NamedThing toxin-mediated infectious botulism Aform of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced in vivo leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism). phenio_relaxed_subqs.owl MONDO:0016777 biolink:NamedThing inhalational botulism Inhalational botulism is a man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs). phenio_relaxed_subqs.owl MONDO:0016778 biolink:NamedThing iatrogenic botulism Iatrogenic botulism is the most recent man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use. phenio_relaxed_subqs.owl NCIT:C84599 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_398565003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005542 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1267 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0006060 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024472 biolink:NamedThing boutonneuse fever An infectious disease of the Mediterranean area, the Crimea, Africa, and India, caused by infection with rickettsia conorii subsp. coronorii. phenio_relaxed_subqs.owl DOID:14095 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001907 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_186774005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007179 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:83313 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0006075 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001912 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007181 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0006079 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020761 biolink:NamedThing Bowen disease of the skin A form of squamous cell carcinoma in situ. It is a distinct clinicopathological entity and arises from the skin or the mucocutaneous junction. It affects predominantly white males in their 6-8th decades of life. Exposed and non-exposed skin sites are equally affected. UV damage and ingestion of inorganic arsenic may play a role in the development of the disease. On the skin surface, it presents as a single or multiple erythematous, scaly, keratotic patches or plaques. The clinical entity of erythroplasia of Queyrat is regarded as Bowen disease of the penis and it presents as an asymptomatic, red, circumscribed plaque. Morphologically, Bowen disease is characterized by the presence of hyperkeratosis, parakeratosis, dyskeratosis, and acanthosis. The keratotic squamous cells are atypical and display hyperchromatism and abnormal mitotic figures. The dermoepidermal basement membrane is intact. Complete surgical removal of the lesion may be curative. phenio_relaxed_subqs.owl OBO:GARD_0005948 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001913 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C62571 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0006181 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005680 biolink:NamedThing Brill-Zinsser disease A delayed relapse of epidemic typhus, caused by Rickettsia prowazekii. phenio_relaxed_subqs.owl DOID:11254 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_47761007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007182 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99990 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0006285 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005682 biolink:NamedThing bronchopneumonia Acute inflammation of the walls of the terminal bronchioles that spreads into the peribronchial alveoli and alveolar ducts. It results in the creation of foci of consolidation, which are surrounded by normal parenchyma. It affects one or more lobes, and is frequently bilateral and basal. It is usually caused by bacteria (e.g., Staphylococcus, Streptococcus, Haemophilus influenzae). Signs and symptoms include fever, cough with production of brown-red sputum, dyspnea, and chest pain. phenio_relaxed_subqs.owl DOID:12375 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_485 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001996 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C26710 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_396285007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007184 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0006309 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005683 biolink:NamedThing brucellosis Brucellosis is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals. Animals that are most commonly infected include sheep, cattle, goats, pigs, and dogs. Brucellosis can cause of range of signs and symptoms, some of which may persist or recur. Initial symptoms may include fever, sweats, malaise, anorexia, headache, fatigue, and/or pain in the muscles, joints, and/or back. Symptoms that may persist or recur include fevers, arthritis, swelling of the testicle and scrotum, swelling of the heart (endocarditis), neurologic symptoms (in up to 5% of cases), chronic fatigue, depression, and/or swelling of the liver or spleen. People who are in jobs or settings that increase exposure to the bacteria are at increased risk for infection. Antibiotics are used to treat brucellosis. Recovery may take a few weeks to several months, and relapses are common. Death from brucellosis is rare, occurring in no more than 2% of cases. phenio_relaxed_subqs.owl DOID:11077 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005966 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A23 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_023.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002006 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001190 biolink:NamedThing Brucella suis brucellosis An disease or disorder caused by infection with Brucella suis. phenio_relaxed_subqs.owl MONDO:0001857 biolink:NamedThing Brucella canis brucellosis A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has symptom fever, has symptom sweats, has symptom weakness, has symptom weight loss, has symptom headache, has symptom lymphadenopathy and has symptom splenomegaly. phenio_relaxed_subqs.owl MONDO:0001972 biolink:NamedThing Brucella melitensis brucellosis A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has symptom fever, has symptom malaise, has symptom anorexia, has symptom limb pain and has symptom back pain. phenio_relaxed_subqs.owl MONDO:0001973 biolink:NamedThing Brucella abortus brucellosis A bacterial infection caused by Brucella abortus that spreads from cattle to humans. Brucella abortus can cause of range of signs and symptoms including fever, chills, sweats, weight loss, malaise, headaches, myalgia, and arthralgia. phenio_relaxed_subqs.owl MONDO:0025389 biolink:NamedThing brucellosis, bovine A disease of cattle caused by bacteria of the genus brucella leading to abortion in late pregnancy. brucella abortus is the primary infective agent. phenio_relaxed_subqs.owl NCIT:C84602 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_75702008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007185 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1304 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0006430 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006687 biolink:NamedThing burning mouth syndrome A condition characterized by a burning or tingling sensation on the lips, tongue, or entire mouth. phenio_relaxed_subqs.owl UMLS:C2930806 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN242089 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4331 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005974 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002054 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0022618 biolink:NamedThing burning mouth syndrome type 3 phenio_relaxed_subqs.owl NCIT:C62545 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_399165002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000850 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:353253 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0006666 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017215 biolink:NamedThing calciphylaxis Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes itto die (necrosis). The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can developand become infected easily. Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure.These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more thana few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure. The exact cause of calciphylaxis is unknown. Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition. phenio_relaxed_subqs.owl DOID:4734 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005980 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002115 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017216 biolink:NamedThing calciphylaxis cutis Calciphylaxis cutis is a life-threatening syndrome characterized by progressive and painful skin ulcerations associated with media calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation. phenio_relaxed_subqs.owl MONDO:0017217 biolink:NamedThing visceral calciphylaxis Visceral calciphylaxis is a rare, life-threatening, non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation. phenio_relaxed_subqs.owl NCIT:C84607 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237900002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:280062 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0006705 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005557 biolink:NamedThing calcium metabolic disease Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization. phenio_relaxed_subqs.owl DOID:10575 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_275.4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_275.40 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002128 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001566 biolink:NamedThing hypercalcemia disease Abnormally high concentration of calcium in the peripheral blood. phenio_relaxed_subqs.owl MONDO:0002123 biolink:NamedThing calcinosis Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer. phenio_relaxed_subqs.owl MONDO:0018543 biolink:NamedThing autosomal dominant hypocalcemia Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria. phenio_relaxed_subqs.owl MONDO:0400002 biolink:NamedThing calcium-alkali syndrome The ingestion of excessive calcium supplementation or calcium containing antacids, and alkali resulting in a triad of hypercalcemia, metabolic alkalosis, and renal insufficiency. phenio_relaxed_subqs.owl OBO:SCTID_71638002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005769 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0006818 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005688 biolink:NamedThing campylobacteriosis Infections with bacteria of the genus campylobacter. phenio_relaxed_subqs.owl DOID:13622 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002169 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0040728 biolink:NamedThing Campylobacter fetus infectious disease phenio_relaxed_subqs.owl OBO:SCTID_86500004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007190 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0006840 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002026 biolink:NamedThing candidiasis Infection with the organism Candida. phenio_relaxed_subqs.owl DOID:1508 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B37 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_112.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002177 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000879 biolink:NamedThing cutaneous candidiasis Candidiasis of the skin manifested as eczema-like lesions of the interdigital spaces, perleche, or chronic paronychia. (Dorland, 27th ed) phenio_relaxed_subqs.owl MONDO:0001648 biolink:NamedThing esophageal candidiasis Esophagitis resulting from Candida. phenio_relaxed_subqs.owl MONDO:0001984 biolink:NamedThing candidal paronychia A candidiasis that results in fungal infection of the outer-most layer located in nail, has material basis in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury. phenio_relaxed_subqs.owl MONDO:0004824 biolink:NamedThing neonatal candidiasis A fungal infection by any of the Candida species in a newborn infant up to 28 days old. phenio_relaxed_subqs.owl MONDO:0005886 biolink:NamedThing oral candidiasis Infection of the mucosal lining of the mouth with the fungus Candida albicans. phenio_relaxed_subqs.owl MONDO:0006014 biolink:NamedThing vulvovaginal candidiasis Infection of the vulva and vagina with a fungus of the genus CANDIDA. It is a disease associated with HIV infection. phenio_relaxed_subqs.owl MONDO:0022636 biolink:NamedThing candida glabrata infection phenio_relaxed_subqs.owl MONDO:0023415 biolink:NamedThing congenital candidiasis A fungal infection by any of the Candida species that is present at birth. phenio_relaxed_subqs.owl MONDO:0042233 biolink:NamedThing disseminated candidiasis Systemic candidiasis occurs when Candida yeast enters the bloodstream and may spread (becoming disseminated candidiasis) to other organs, including the central nervous system, kidneys, liver, bones, muscles, joints, spleen, or eyes. phenio_relaxed_subqs.owl MONDO:0044067 biolink:NamedThing candidiasis, invasive A fungal infection by any of the Candida species in a sterile body compartment. phenio_relaxed_subqs.owl NCIT:C26711 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_78048006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0006842 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1282977 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14512 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_112.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_187014000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0006846 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080161 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002179 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0006849 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14262 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_112.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002180 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C28137 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_79740000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007406 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0006897 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001532 biolink:NamedThing capillariasis A infectious disease involving the Capillaria. phenio_relaxed_subqs.owl DOID:12474 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_127.5 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_52979002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0007122 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002284 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001278 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0007129 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019210 biolink:NamedThing cutaneous neuroendocrine carcinoma Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC)). phenio_relaxed_subqs.owl OBO:GARD_0009266 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015266 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C9231 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_MCC biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_253001006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001471 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79140 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0007192 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006643 biolink:NamedThing alcoholic cardiomyopathy A dilated cardiomyopathy which is associated with consumption of large amounts of alcohol over a period of years. phenio_relaxed_subqs.owl DOID:12935 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_I42.6 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_425.5 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002310 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C53653 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_83521008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000801 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0007279 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021053 biolink:NamedThing carotid body paraganglioma A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia adjacent to or in the bifurcation of the common carotid artery. Most patients present with a slow growing, painless mass in the neck. phenio_relaxed_subqs.owl OBO:GARD_0010598 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004650 biolink:NamedThing malignant carotid body paraganglioma A carotid body paraganglioma that metastasizes to other anatomic sites. phenio_relaxed_subqs.owl MONDO:0006104 biolink:NamedThing benign carotid body paraganglioma A carotid body paraganglioma that is confined to the site of origin, without metastatic potential. phenio_relaxed_subqs.owl MONDO:0015102 biolink:NamedThing non-secreting chemodectoma phenio_relaxed_subqs.owl NCIT:C2932 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0007350 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002371 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0025412 biolink:NamedThing feline panleukopenia A highly contagious dna virus infection of the cat family, characterized by fever, enteritis and bone marrow changes. It is also called feline ataxia, feline agranulocytosis, feline infectious enteritis, cat fever, cat plague, and show fever. It is caused by feline panleukopenia virus or the closely related mink enteritis virus or canine parvovirus. phenio_relaxed_subqs.owl MONDO:0025485 biolink:NamedThing feline acquired immunodeficiency syndrome Acquired defect of cellular immunity that occurs in cats infected with feline immunodeficiency virus (fiv) and in some cats infected with feline leukemia virus (Felv). phenio_relaxed_subqs.owl MONDO:0025488 biolink:NamedThing leukemia, feline A neoplastic disease of cats frequently associated with feline leukemia virus infection. phenio_relaxed_subqs.owl MONDO:0025491 biolink:NamedThing feline infectious peritonitis Common coronavirus infection of cats caused by the feline infectious peritonitis virus (coronavirus, feline). The disease is characterized by a long incubation period, fever, depression, loss of appetite, wasting, and progressive abdominal enlargement. Infection of cells of the monocyte-macrophage lineage appears to be essential in FIP pathogenesis. phenio_relaxed_subqs.owl UMLS:C0007361 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205187 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11258 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000027 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A28.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_078.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002372 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84620 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_79974007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007195 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:50839 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0007453 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002418 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005678 biolink:NamedThing bovine respiratory disease complex A multifactorial disease of cattle resulting from complex interactions between environmental factors, host factors, and pathogens. The environmental factors act as stressors adversely affecting the immune system and other host defenses and enhancing transmission of infecting agents. phenio_relaxed_subqs.owl MONDO:0006762 biolink:NamedThing freemartinism A condition occurring in the female offspring of dizygotic twins (twin, dizygotic) in a mixed-sex pregnancy, usually in cattle. Freemartinism can occur in other mammals. When placental fusion between the male and the female fetuses permits the exchange of fetal cells and fetal hormones, testicular hormones from the male fetus can androgenize the female fetus producing a sterile xx/xy chimeric 'female'(chimerism). phenio_relaxed_subqs.owl MONDO:0025089 biolink:NamedThing infectious bovine rhinotracheitis A herpesvirus infection of cattle characterized by inflammation and necrosis of the mucous membranes of the upper respiratory tract. phenio_relaxed_subqs.owl MONDO:0025096 biolink:NamedThing malignant catarrh A herpesvirus infection of cattle characterized by catarrhal inflammation of the upper respiratory and alimentary epithelia, keratoconjunctivitis, encephalitis and lymph node enlargement. Syn: bovine epitheliosis, snotsiekte. phenio_relaxed_subqs.owl MONDO:0025100 biolink:NamedThing mastitis, bovine Inflammation of the udder in cows. phenio_relaxed_subqs.owl MONDO:0025136 biolink:NamedThing tuberculosis, bovine An infection of cattle caused by mycobacterium bovis. It is transmissible to man and other animals. phenio_relaxed_subqs.owl MONDO:0025149 biolink:NamedThing encephalopathy, bovine spongiform A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ataxia. This disorder has been associated with consumption of scrapie infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant creutzfeldt-jakob syndrome. (Vet Rec 1998 Jul 25;143(41):101-5) phenio_relaxed_subqs.owl MONDO:0025155 biolink:NamedThing hemorrhagic syndrome, bovine Clinically severe acute disease of cattle caused by noncytopathic forms of Bovine viral diarrhea virus 2 (diarrhea virus 2, bovine viral). Outbreaks are characterized by high morbidity and high mortality. phenio_relaxed_subqs.owl MONDO:0025163 biolink:NamedThing white heifer disease A congenital reproductive abnormality in white female offspring (heifers) in certain breeds of cattle, such as Belgian Blue and Shorthorn. The white color is inherited as a recessive trait which is associated with defects in the female reproductive tract (Muellerian system). These heifers are usually sterile. phenio_relaxed_subqs.owl MONDO:0025271 biolink:NamedThing trypanosomiasis, bovine Infection in cattle caused by various species of trypanosomes. phenio_relaxed_subqs.owl MONDO:0025489 biolink:NamedThing enzootic bovine leukosis A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding. phenio_relaxed_subqs.owl UMLS:C0007459 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020767 biolink:NamedThing cauda equina syndrome with neurogenic bladder A rare neurologic disorder caused by impingement of the nerve roots of the cauda equina secondary to disc herniation, spinal stenosis, vertebral fracture, neoplasm or infection. Clinical signs may include bladder or bowel dysfunction, paresthesia and weakness of the lower extremities. The development of neurogenic bladder implies that surgical decompression was either ineffective, delayed or not attempted. phenio_relaxed_subqs.owl NCIT:C34453 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_12454008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0007462 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020572 biolink:NamedThing complex regional pain syndrome type 2 Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia, not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area. phenio_relaxed_subqs.owl DOID:3222 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002422 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C121572 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_408751001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000854 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99994 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0007761 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008945 biolink:NamedThing myoclonic cerebellar dyssynergia A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1) phenio_relaxed_subqs.owl UMLS:C1834580 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12707 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009256 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002527 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:159700 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:213400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_73495003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001053 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0007772 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007154 biolink:NamedThing arteriovenous malformations of the brain Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures. phenio_relaxed_subqs.owl DOID:0060688 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003020 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002538 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C2936 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:108010 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234142008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:46724 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0007788 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020143 biolink:NamedThing cerebral lipidosis with dementia phenio_relaxed_subqs.owl DOID:10742 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_330.1 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008948 biolink:NamedThing cerebrotendinous xanthomatosis Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction. phenio_relaxed_subqs.owl MONDO:0009265 biolink:NamedThing Gaucher disease type I Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia. phenio_relaxed_subqs.owl MONDO:0009266 biolink:NamedThing Gaucher disease type II Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2. phenio_relaxed_subqs.owl MONDO:0009267 biolink:NamedThing Gaucher disease type III Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1. phenio_relaxed_subqs.owl MONDO:0010006 biolink:NamedThing Sandhoff disease Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration. phenio_relaxed_subqs.owl MONDO:0010100 biolink:NamedThing Tay-Sachs disease GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency. phenio_relaxed_subqs.owl MONDO:0016091 biolink:NamedThing adult Krabbe disease A Krabbe disease that occurs in an adult. phenio_relaxed_subqs.owl MONDO:0019260 biolink:NamedThing adult neuronal ceroid lipofuscinosis A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration. phenio_relaxed_subqs.owl MONDO:0019261 biolink:NamedThing infantile neuronal ceroid lipofuscinosis A form of neuronal ceroid lipofuscinosis (NCL) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities. phenio_relaxed_subqs.owl MONDO:0019262 biolink:NamedThing juvenile neuronal ceroid lipofuscinosis A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities. phenio_relaxed_subqs.owl OBO:SCTID_16517004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98544 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0007815 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020773 biolink:NamedThing cerebrospinal fluid rhinorrhea Discharge of cerebrospinal fluid through the nose. Common etiologies include trauma, neoplasms, and prior surgery, although the condition may occur spontaneously. (Otolaryngol Head Neck Surg 1997 Apr;116(4):442-9) phenio_relaxed_subqs.owl OBO:MESH_D002559 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84627 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_85638002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0007947 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001797 biolink:NamedThing chancroid Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more.About half of the people who are infected with a chancroid will develop enlarged inguinal lymph nodes, the nodes located in the fold between the leg and the lower abdomen. In some cases, the nodes will break through the skin and cause draining abscesses. The swollen lymph nodes and abscesses are often called buboes. Chancroid infections can be treated with antibiotics, including azithromycin, ceftriaxone, ciprofloxacin, and erythromycin. Large lymph node swellings need to be drained, either with a needle or local surgery. phenio_relaxed_subqs.owl DOID:13778 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009522 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A57 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_099.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002602 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_266143009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0007959 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015626 biolink:NamedThing Charcot-Marie-Tooth disease An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs. phenio_relaxed_subqs.owl DOID:10595 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006034 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002607 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007310 biolink:NamedThing Charcot-Marie-Tooth disease, Guadalajara neuronal type phenio_relaxed_subqs.owl MONDO:0007312 biolink:NamedThing Charcot-Marie-Tooth disease with ptosis and parkinsonism phenio_relaxed_subqs.owl MONDO:0007790 biolink:NamedThing Charcot-Marie-Tooth disease type 3 phenio_relaxed_subqs.owl MONDO:0008451 biolink:NamedThing neuronopathy, distal hereditary motor, type 1 An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration. phenio_relaxed_subqs.owl MONDO:0011674 biolink:NamedThing Charcot-Marie-Tooth disease dominant intermediate B Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts. phenio_relaxed_subqs.owl MONDO:0011909 biolink:NamedThing Charcot-Marie-Tooth disease dominant intermediate D Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor. phenio_relaxed_subqs.owl MONDO:0012012 biolink:NamedThing Charcot-Marie-Tooth disease dominant intermediate C Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs. phenio_relaxed_subqs.owl MONDO:0012014 biolink:NamedThing Charcot-Marie-Tooth disease recessive intermediate A Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology. phenio_relaxed_subqs.owl MONDO:0013338 biolink:NamedThing Charcot-Marie-Tooth disease recessive intermediate B Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology. phenio_relaxed_subqs.owl MONDO:0013644 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2O Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene. phenio_relaxed_subqs.owl MONDO:0013753 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2P Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene. phenio_relaxed_subqs.owl MONDO:0014012 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2Q Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment. phenio_relaxed_subqs.owl MONDO:0014154 biolink:NamedThing Charcot-Marie-Tooth disease recessive intermediate C Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy. phenio_relaxed_subqs.owl MONDO:0014467 biolink:NamedThing Charcot-Marie-Tooth disease recessive intermediate D Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene. phenio_relaxed_subqs.owl MONDO:0014511 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2S Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene. phenio_relaxed_subqs.owl MONDO:0014665 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2V Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene. phenio_relaxed_subqs.owl MONDO:0014726 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2X Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene. phenio_relaxed_subqs.owl MONDO:0014736 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2Z Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the MORC2 gene. phenio_relaxed_subqs.owl MONDO:0014836 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2CC Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NEFH gene. phenio_relaxed_subqs.owl MONDO:0014866 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2T A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25. phenio_relaxed_subqs.owl MONDO:0014906 biolink:NamedThing Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A. phenio_relaxed_subqs.owl MONDO:0018775 biolink:NamedThing axonal hereditary motor and sensory neuropathy phenio_relaxed_subqs.owl MONDO:0018776 biolink:NamedThing demyelinating hereditary motor and sensory neuropathy phenio_relaxed_subqs.owl MONDO:0018778 biolink:NamedThing intermediate Charcot-Marie-Tooth disease phenio_relaxed_subqs.owl MONDO:0018993 biolink:NamedThing Charcot-Marie-Tooth disease type 2 A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. phenio_relaxed_subqs.owl MONDO:0018994 biolink:NamedThing Charcot-Marie-Tooth disease type X A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome. phenio_relaxed_subqs.owl MONDO:0025622 biolink:NamedThing Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 phenio_relaxed_subqs.owl MONDO:0030433 biolink:NamedThing Charcot-Marie-Tooth disease, axonal, type 2FF phenio_relaxed_subqs.owl MONDO:0030458 biolink:NamedThing Charcot-Marie-Tooth disease, axonal, Type 2HH phenio_relaxed_subqs.owl MONDO:0030677 biolink:NamedThing Charcot-Marie-Tooth disease, demyelinating, IIA 1I phenio_relaxed_subqs.owl MONDO:0030689 biolink:NamedThing Charcot-Marie-Tooth disease, demyelinating, IIA 1H phenio_relaxed_subqs.owl NCIT:C75467 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_118220 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:166 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0007965 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008963 biolink:NamedThing Chediak-Higashi syndrome ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described. phenio_relaxed_subqs.owl DOID:2935 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006035 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E70.330 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002609 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C2941 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:214500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111396008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:167 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0008029 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007315 biolink:NamedThing cherubism Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases. phenio_relaxed_subqs.owl DOID:1856 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006036 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002636 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021838 biolink:NamedThing Al Gazali Khidr Prem Chandran syndrome A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. This is an n-of-1 use case where only one patient or family has been described with this disorder. phenio_relaxed_subqs.owl NCIT:C84630 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:118400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_76098004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:184 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0008049 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005700 biolink:NamedThing chickenpox A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications. phenio_relaxed_subqs.owl DOID:8659 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_052.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002644 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C97132 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_38907003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007204 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0008055 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017941 biolink:NamedThing chikungunya An infection that is caused by the Chikungunya virus, which is transmitted by mosquitoes; it is characterized by fever and severe arthralgia. phenio_relaxed_subqs.owl DOID:0050012 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006038 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D065632 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128422 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111864006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:324625 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0008127 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009280 biolink:NamedThing monosodium glutamate sensitivity phenio_relaxed_subqs.owl OBO:MESH_C562377 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:231630 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_56344009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0008153 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020776 biolink:NamedThing chlamydiaceae infections Infections with bacteria of the family CHLAMYDIACEAE. phenio_relaxed_subqs.owl OBO:MESH_D002694 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021697 biolink:NamedThing chlamydia infectious disease Infections with bacteria of the genus CHLAMYDIA. phenio_relaxed_subqs.owl EFO:1001288 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0008311 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004789 biolink:NamedThing cholangitis An acute or chronic inflammatory process affecting the biliary tract. phenio_relaxed_subqs.owl DOID:9446 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_K83.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_576.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002761 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001928 biolink:NamedThing suppurative cholangitis Cholangitis that is characterized by pyogenic organisms. phenio_relaxed_subqs.owl MONDO:0001929 biolink:NamedThing ascending cholangitis Acute infection of the bile ducts caused by bacteria ascending from the small intestine. phenio_relaxed_subqs.owl MONDO:0001930 biolink:NamedThing acute cholangitis Cholangitis that is both sudden in onset and of a relatively short duration. phenio_relaxed_subqs.owl MONDO:0001931 biolink:NamedThing pericholangitis Inflammation of the tissue surrounding the biliary ducts. phenio_relaxed_subqs.owl MONDO:0002155 biolink:NamedThing cholecystitis An acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones. phenio_relaxed_subqs.owl MONDO:0004786 biolink:NamedThing chronic cholangitis Cholangitis that is persistent and long-standing. phenio_relaxed_subqs.owl MONDO:0018646 biolink:NamedThing sclerosing cholangitis A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure. phenio_relaxed_subqs.owl MONDO:0034189 biolink:NamedThing primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome phenio_relaxed_subqs.owl NCIT:C26718 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_82403002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0008313 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14268 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011874 biolink:NamedThing neonatal ichthyosis-sclerosing cholangitis syndrome Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. phenio_relaxed_subqs.owl MONDO:0013433 biolink:NamedThing primary sclerosing cholangitis Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure. phenio_relaxed_subqs.owl MONDO:0018645 biolink:NamedThing IgG4-related sclerosing cholangitis phenio_relaxed_subqs.owl MONDO:0018647 biolink:NamedThing secondary sclerosing cholangitis phenio_relaxed_subqs.owl MONDO:0018816 biolink:NamedThing isolated neonatal sclerosing cholangitis Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease. phenio_relaxed_subqs.owl NCIT:C4828 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_235917005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0004268 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:447771 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0008350 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012672 biolink:NamedThing cholelithiasis The presence of calculi in the gallbladder. phenio_relaxed_subqs.owl DOID:10211 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002769 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C122822 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611465 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_266474003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0004799 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0008354 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015766 biolink:NamedThing cholera Cholera is an infectious disease, caused by intestinal infection with Vibrio cholerae, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated. phenio_relaxed_subqs.owl DOID:1498 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006043 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A00 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_001.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_001.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002771 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_63650001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:173 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0008372 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019072 biolink:NamedThing intrahepatic cholestasis Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery. phenio_relaxed_subqs.owl DOID:0070227 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1852 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009804 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002780 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017290 biolink:NamedThing familial intrahepatic cholestasis An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0100429 biolink:NamedThing intrahepatic cholestasis of pregnancy A cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery. phenio_relaxed_subqs.owl OBO:SCTID_235888006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009048 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0008384 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019149 biolink:NamedThing cholesteryl ester storage disease Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to atherosclerosis, hepatomegaly, splenomegaly, progressive liver disease, and malabsorption. phenio_relaxed_subqs.owl DOID:14502 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012099 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_57218003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:75234 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0008412 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004575 biolink:NamedThing choline deficiency disease A condition produced by a deficiency of choline in animals. Choline is known as a lipotropic agent because it has been shown to promote the transport of excess fat from the liver under certain conditions in laboratory animals. Combined deficiency of choline (included in the B vitamin complex) and all other methyl group donors causes liver cirrhosis in some animals. Unlike compounds normally considered as vitamins, choline does not serve as a cofactor in enzymatic reactions. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984) phenio_relaxed_subqs.owl DOID:8456 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002796 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238113006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0008441 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004997 biolink:NamedThing chondroblastoma A benign, chondroid-producing, well-circumscribed, lytic neoplasm usually arising from the epiphysis of long bones. It is characterized by the presence of chondroblasts, osteoclast-like giant cells, chondroid formation, calcification, and mitotic activity. In aggressive cases, there is rearrangement of the 8q21 chromosome band. It occurs most frequently in children and young adults and rarely metastasizes. phenio_relaxed_subqs.owl DOID:2649 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006047 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002804 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C2945 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_CHBL biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000331 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0008479 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008977 biolink:NamedThing chondrosarcoma A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion. phenio_relaxed_subqs.owl DOID:3371 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006055 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002813 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000515 biolink:NamedThing bone chondrosarcoma A chondrosarcoma (disease) that involves the bone tissue. phenio_relaxed_subqs.owl MONDO:0003680 biolink:NamedThing periosteal chondrosarcoma A chondrosarcoma arising from the surface of bone. It is characterized by a lobulated growth pattern, high mitotic activity, myxoid stroma formation, and necrotic changes. It occurs in adults. Clinical presentation includes pain, and sometimes swelling. phenio_relaxed_subqs.owl MONDO:0003681 biolink:NamedThing myxoid chondrosarcoma A chondrosarcoma characterized by the presence of myxoid changes. phenio_relaxed_subqs.owl MONDO:0003682 biolink:NamedThing localized chondrosarcoma A non-disseminated skeletal or extraskeletal chondrosarcoma. phenio_relaxed_subqs.owl MONDO:0006853 biolink:NamedThing mesenchymal chondrosarcoma A morphologic variant of chondrosarcoma arising from bone and soft tissue. It is characterized by the presence of malignant small round cells, biphasic growth pattern, and well differentiated hyaline cartilage. Clinical presentation includes pain and swelling. The clinical course is aggressive, with local recurrences and distant metastases. phenio_relaxed_subqs.owl NCIT:C2946 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:215300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_CHS biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_443520009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000333 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:55880 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0008487 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008978 biolink:NamedThing chordoma Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton. phenio_relaxed_subqs.owl DOID:3302 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001303 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002817 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000518 biolink:NamedThing sacrum chordoma A chordoma (disease) that involves the fused sacrum. phenio_relaxed_subqs.owl MONDO:0002892 biolink:NamedThing skull base chordoma A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.. phenio_relaxed_subqs.owl MONDO:0002894 biolink:NamedThing spinal chordoma A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells. phenio_relaxed_subqs.owl MONDO:0003849 biolink:NamedThing clivus chordoma A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells. phenio_relaxed_subqs.owl MONDO:0006145 biolink:NamedThing chondroid chordoma A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage. phenio_relaxed_subqs.owl NCIT:C2947 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:215400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_CHDM biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:178 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0008493 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020549 biolink:NamedThing invasive hydatidiform mole A complete hydatidiform mole or very rarely a partial mole that invades the myometrium. phenio_relaxed_subqs.owl OBO:MESH_D002820 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6985 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_IHM biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_416669000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99925 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0008525 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010557 biolink:NamedThing choroideremia Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina. phenio_relaxed_subqs.owl DOID:9821 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006061 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_H31.21 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_363.55 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015794 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004889 biolink:NamedThing total central choroidal atrophy phenio_relaxed_subqs.owl MONDO:0022737 biolink:NamedThing choroideremia hypopituitarism This is an X-linked recessive retinal degenerative disease that leads to degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain. phenio_relaxed_subqs.owl NCIT:C34469 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:303100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_75241009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:180 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0008582 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015908 biolink:NamedThing chromomycosis Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa. phenio_relaxed_subqs.owl UMLS:C3245522 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1562 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001319 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_117.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002862 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_187079000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007207 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:182 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0008681 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004757 biolink:NamedThing chronic ethmoidal sinusitis Inflammation of the ethmoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. phenio_relaxed_subqs.owl DOID:9312 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_J32.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_473.2 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34472 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_73237007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0008683 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001120 biolink:NamedThing chronic frontal sinusitis Inflammation of the frontal sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. phenio_relaxed_subqs.owl DOID:10790 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_J32.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_473.1 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34473 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_60130002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0008698 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001122 biolink:NamedThing chronic maxillary sinusitis Inflammation of the maxillary sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. phenio_relaxed_subqs.owl DOID:10792 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_J32.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_473.0 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34477 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_35923002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0008711 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004514 biolink:NamedThing chronic rhinitis Chronic inflammation of the nasal cavity mucosa. It may lead to post-nasal drip resulting in chronic sore throat and chronic cough. phenio_relaxed_subqs.owl DOID:8252 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_J31.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_472.0 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34479 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_86094006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0008712 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001123 biolink:NamedThing chronic sphenoidal sinusitis Inflammation of the sphenoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. phenio_relaxed_subqs.owl DOID:10793 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_J32.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_473.3 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34480 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_38961000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0008728 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015943 biolink:NamedThing eosinophilic granulomatosis with polyangiitis Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia. phenio_relaxed_subqs.owl DOID:3049 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005776 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006111 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015267 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34481 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_82275008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007208 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:183 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0008732 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008829 biolink:NamedThing chylous ascites Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain. phenio_relaxed_subqs.owl OBO:GARD_0001359 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002915 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34482 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:208300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_52985009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1160 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0008780 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016575 biolink:NamedThing primary ciliary dyskinesia A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy). phenio_relaxed_subqs.owl DOID:0050144 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9562 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004484 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006815 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002925 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007619 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008984 biolink:NamedThing ciliary discoordination due to random ciliary orientation phenio_relaxed_subqs.owl MONDO:0008985 biolink:NamedThing ciliary dyskinesia with transposition of ciliary microtubules phenio_relaxed_subqs.owl MONDO:0009449 biolink:NamedThing ciliary dyskinesia with defective radial spokes phenio_relaxed_subqs.owl MONDO:0009450 biolink:NamedThing ciliary dyskinesia with excessively long cilia phenio_relaxed_subqs.owl MONDO:0009477 biolink:NamedThing Stromme syndrome An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016). phenio_relaxed_subqs.owl MONDO:0009484 biolink:NamedThing primary ciliary dyskinesia 1 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene. phenio_relaxed_subqs.owl MONDO:0010517 biolink:NamedThing ciliary dyskinesia, primary, 36, X-linked Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the PIH1D3 gene. phenio_relaxed_subqs.owl MONDO:0011718 biolink:NamedThing primary ciliary dyskinesia 2 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF3 gene. phenio_relaxed_subqs.owl MONDO:0012085 biolink:NamedThing primary ciliary dyskinesia 3 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH5 gene. phenio_relaxed_subqs.owl MONDO:0012087 biolink:NamedThing primary ciliary dyskinesia 4 A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has material basis in variation in the chromosome region 15q13.1-q15.1. phenio_relaxed_subqs.owl MONDO:0012088 biolink:NamedThing primary ciliary dyskinesia 5 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the HYDIN gene. phenio_relaxed_subqs.owl MONDO:0012571 biolink:NamedThing primary ciliary dyskinesia 6 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the NME8 gene. phenio_relaxed_subqs.owl MONDO:0012748 biolink:NamedThing primary ciliary dyskinesia 7 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH11 gene. phenio_relaxed_subqs.owl MONDO:0012844 biolink:NamedThing primary ciliary dyskinesia 8 A primary ciliary dyskinesia that has material basis in variation in the chromosome region 15q24-q25. phenio_relaxed_subqs.owl MONDO:0012906 biolink:NamedThing primary ciliary dyskinesia 9 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI2 gene. phenio_relaxed_subqs.owl MONDO:0012918 biolink:NamedThing primary ciliary dyskinesia 10 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF2 gene. phenio_relaxed_subqs.owl MONDO:0012978 biolink:NamedThing primary ciliary dyskinesia 11 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH4A gene. phenio_relaxed_subqs.owl MONDO:0012979 biolink:NamedThing primary ciliary dyskinesia 12 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH9 gene. phenio_relaxed_subqs.owl MONDO:0013174 biolink:NamedThing primary ciliary dyskinesia 13 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF1 gene. phenio_relaxed_subqs.owl MONDO:0013434 biolink:NamedThing primary ciliary dyskinesia 14 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC39 gene. phenio_relaxed_subqs.owl MONDO:0013435 biolink:NamedThing primary ciliary dyskinesia 15 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC40 gene. phenio_relaxed_subqs.owl MONDO:0013525 biolink:NamedThing primary ciliary dyskinesia 16 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAL1 gene. phenio_relaxed_subqs.owl MONDO:0013854 biolink:NamedThing primary ciliary dyskinesia 17 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC103 gene. phenio_relaxed_subqs.owl MONDO:0013940 biolink:NamedThing primary ciliary dyskinesia 18 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF5 gene. phenio_relaxed_subqs.owl MONDO:0013979 biolink:NamedThing primary ciliary dyskinesia 19 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the LRRC6 gene. phenio_relaxed_subqs.owl MONDO:0014030 biolink:NamedThing primary ciliary dyskinesia 20 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC114 gene. phenio_relaxed_subqs.owl MONDO:0014123 biolink:NamedThing primary ciliary dyskinesia 21 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DRC1 gene. phenio_relaxed_subqs.owl MONDO:0014192 biolink:NamedThing primary ciliary dyskinesia 22 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ZMYND10 gene. phenio_relaxed_subqs.owl MONDO:0014193 biolink:NamedThing primary ciliary dyskinesia 23 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene. phenio_relaxed_subqs.owl MONDO:0014202 biolink:NamedThing primary ciliary dyskinesia 24 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH1 gene. phenio_relaxed_subqs.owl MONDO:0014203 biolink:NamedThing primary ciliary dyskinesia 25 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF4 gene. phenio_relaxed_subqs.owl MONDO:0014211 biolink:NamedThing primary ciliary dyskinesia 26 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP298 gene. phenio_relaxed_subqs.owl MONDO:0014215 biolink:NamedThing primary ciliary dyskinesia 27 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC65 gene. phenio_relaxed_subqs.owl MONDO:0014216 biolink:NamedThing primary ciliary dyskinesia 28 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the SPAG1 gene. phenio_relaxed_subqs.owl MONDO:0014378 biolink:NamedThing primary ciliary dyskinesia 29 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCNO gene. phenio_relaxed_subqs.owl MONDO:0014465 biolink:NamedThing primary ciliary dyskinesia 30 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene. phenio_relaxed_subqs.owl MONDO:0014657 biolink:NamedThing primary ciliary dyskinesia 32 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH3 gene. phenio_relaxed_subqs.owl MONDO:0014750 biolink:NamedThing primary ciliary dyskinesia 33 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the GAS8 gene. phenio_relaxed_subqs.owl MONDO:0014909 biolink:NamedThing primary ciliary dyskinesia 34 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAJB13 gene. phenio_relaxed_subqs.owl MONDO:0014910 biolink:NamedThing primary ciliary dyskinesia 35 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the TTC25 gene. phenio_relaxed_subqs.owl MONDO:0030332 biolink:NamedThing ciliary dyskinesia, primary, 46 phenio_relaxed_subqs.owl MONDO:0030346 biolink:NamedThing ciliary dyskinesia, primary, 47, and lissencephaly phenio_relaxed_subqs.owl MONDO:0032637 biolink:NamedThing ciliary dyskinesia, primary, 39 phenio_relaxed_subqs.owl MONDO:0032664 biolink:NamedThing ciliary dyskinesia, primary, 40 phenio_relaxed_subqs.owl MONDO:0032757 biolink:NamedThing ciliary dyskinesia, primary, 41 phenio_relaxed_subqs.owl MONDO:0032872 biolink:NamedThing ciliary dyskinesia, primary, 42 phenio_relaxed_subqs.owl MONDO:0032874 biolink:NamedThing ciliary dyskinesia, primary, 43 phenio_relaxed_subqs.owl MONDO:0032914 biolink:NamedThing ciliary dyskinesia, primary, 44 phenio_relaxed_subqs.owl MONDO:0032924 biolink:NamedThing ciliary dyskinesia, primary, 45 phenio_relaxed_subqs.owl MONDO:0033204 biolink:NamedThing ciliary dyskinesia, primary, 37 phenio_relaxed_subqs.owl MONDO:0054843 biolink:NamedThing ciliary dyskinesia, primary, 38 phenio_relaxed_subqs.owl NCIT:C84797 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_244400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_42402006 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_86204009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:244 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0008928 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007340 biolink:NamedThing cleidocranial dysplasia Cleidocranial dysplasia (CCD) is a condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems. phenio_relaxed_subqs.owl DOID:13994 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006118 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002973 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008994 biolink:NamedThing cleidocranial dysplasia, recessive form phenio_relaxed_subqs.owl NCIT:C75020 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:119600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_65976001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1452 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0009021 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005705 biolink:NamedThing clonorchiasis Infection of the biliary passages with clonorchis sinensis, also called Opisthorchis sinensis. It may lead to inflammation of the biliary tract, proliferation of biliary epithelium, progressive portal fibrosis, and sometimes bile duct carcinoma. Extension to the liver may lead to fatty changes and cirrhosis. (From Dorland, 27th ed) phenio_relaxed_subqs.owl DOID:13767 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B66.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_121.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003003 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_11938002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007210 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0009186 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005706 biolink:NamedThing coccidioidomycosis A fungal infection caused by Coccidioides immitis. Affected individuals usually have mild flu-like symptoms. However, pneumonia and systemic involvement with the formation of abscesses may develop as complications of the disease. phenio_relaxed_subqs.owl UMLS:C0700644 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201384 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13450 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009525 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B38 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_114.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003047 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84642 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_23247008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007211 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:228123 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0009187 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005707 biolink:NamedThing coccidiosis A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea and vomiting. phenio_relaxed_subqs.owl DOID:2113 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_007.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003048 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005725 biolink:NamedThing cyclosporiasis A protozoan infection that is caused by Cyclospora cayetanensis, which is most commonly acquired from contaminated food or water, and which is characterized by watery diarrhea and abdominal pain. phenio_relaxed_subqs.owl MONDO:0005989 biolink:NamedThing toxoplasmosis A parasitic disease contracted by the ingestion or fetal transmission of toxoplasma gondii. phenio_relaxed_subqs.owl MONDO:0015474 biolink:NamedThing cryptosporidiosis Intestinal infection with organisms of the genus Cryptosporidium. It occurs in both animals and humans. Symptoms include severe diarrhea. phenio_relaxed_subqs.owl MONDO:0018769 biolink:NamedThing isosporiasis An intestinal infection with Isospora belli. phenio_relaxed_subqs.owl MONDO:0018903 biolink:NamedThing sarcocystosis Infection of the striated muscle of mammals by parasites of the genus sarcocystis. Disease symptoms such as vomiting, diarrhea, muscle weakness, and paralysis are produced by sarcocystin, a toxin produced by the organism. phenio_relaxed_subqs.owl NCIT:C34493 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_62005008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007212 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0009207 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016006 biolink:NamedThing Cockayne syndrome Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit. phenio_relaxed_subqs.owl DOID:2962 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006122 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003057 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008998 biolink:NamedThing Cockayne syndrome type 3 Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes early (premature) aging. Unlike the more severe forms of this condition, individuals with Cockayne syndrome type III can have normal growth and development. Symptoms may include sunlight sensitivity (photosensitivity), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). In general, symptoms of Cockayne syndrome type III are usually not noticeable until later in childhood. phenio_relaxed_subqs.owl MONDO:0019569 biolink:NamedThing Cockayne syndrome type 1 Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8. phenio_relaxed_subqs.owl MONDO:0019570 biolink:NamedThing Cockayne syndrome type 2 Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6. phenio_relaxed_subqs.owl NCIT:C9460 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_21086008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:191 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0009225 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000293 biolink:NamedThing coenurosis A parasitic infection that develops in the intermediate hosts of some tapeworm species (Taenia multiceps, T. serialis, T. brauni, or T. glomerata) and are caused by the coenurus, the larval stage of these worms. This disease occurs mainly in sheep and other ungulates, but occasionally can occur in humans too by accidental ingestion of worms' eggs. phenio_relaxed_subqs.owl DOID:0050251 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_24360007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0009400 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005708 biolink:NamedThing Colorado tick fever A febrile illness characterized by chills, aches, vomiting, leukopenia, and sometimes encephalitis. It is caused by the colorado tick fever virus, a reovirus transmitted by the tick Dermacentor andersoni. phenio_relaxed_subqs.owl DOID:4885 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A93.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003121 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_6452009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007213 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:83595 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0009447 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015517 biolink:NamedThing common variable immunodeficiency Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria. phenio_relaxed_subqs.owl DOID:12177 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006140 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_279.06 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017074 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007814 biolink:NamedThing immune deficiency, familial variable phenio_relaxed_subqs.owl MONDO:0009413 biolink:NamedThing immunodeficiency, common variable, 2 phenio_relaxed_subqs.owl MONDO:0011864 biolink:NamedThing immunodeficiency, common variable, 1 phenio_relaxed_subqs.owl MONDO:0013283 biolink:NamedThing immunodeficiency, common variable, 3 phenio_relaxed_subqs.owl MONDO:0013284 biolink:NamedThing immunodeficiency, common variable, 4 phenio_relaxed_subqs.owl MONDO:0013285 biolink:NamedThing immunodeficiency, common variable, 5 Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene. phenio_relaxed_subqs.owl MONDO:0013286 biolink:NamedThing immunodeficiency, common variable, 6 Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene. phenio_relaxed_subqs.owl MONDO:0013862 biolink:NamedThing immunodeficiency, common variable, 7 phenio_relaxed_subqs.owl MONDO:0013863 biolink:NamedThing combined immunodeficiency due to LRBA deficiency phenio_relaxed_subqs.owl MONDO:0014260 biolink:NamedThing immunodeficiency, common variable, 10 Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene. phenio_relaxed_subqs.owl MONDO:0014338 biolink:NamedThing IL21-related infantile inflammatory bowel disease phenio_relaxed_subqs.owl MONDO:0014697 biolink:NamedThing immunodeficiency, common variable, 12 Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB1 gene. phenio_relaxed_subqs.owl MONDO:0014810 biolink:NamedThing pancytopenia due to IKZF1 mutations Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene. phenio_relaxed_subqs.owl MONDO:0054691 biolink:NamedThing immunodeficiency, common variable, 14 phenio_relaxed_subqs.owl NCIT:C26725 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_607594 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_23238000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1572 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0009492 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004001 biolink:NamedThing compartment syndrome Elevated pressure in a confined space enclosed by fascia or eschar, which may lead to vascular compromise and subsequent ischemic injury to the tissue within the space. phenio_relaxed_subqs.owl DOID:682 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006141 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003161 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C118422 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111245009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0009714 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018840 biolink:NamedThing isolated congenital hepatic fibrosis A congenital disorder usually inherited in an autosomal recessive pattern. It affects the hepatobiliary system and the kidneys. It is characterized by liver fibrosis, portal hypertension, and renal cysts. phenio_relaxed_subqs.owl OBO:GARD_0006168 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562378 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C97071 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_79607001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:485426 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0009765 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005634 biolink:NamedThing acute hemorrhagic conjunctivitis Acute conjunctivitis that is characterized by bleeding into the conjunctiva. phenio_relaxed_subqs.owl DOID:11227 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003232 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34505 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_398264003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007131 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0009768 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003234 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001217 biolink:NamedThing pseudomembranous conjunctivitis Conjunctivitis that is characterized by formation of a pseudomembrane. phenio_relaxed_subqs.owl MONDO:0005808 biolink:NamedThing inclusion conjunctivitis Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery. phenio_relaxed_subqs.owl MONDO:0015455 biolink:NamedThing gonococcal conjunctivitis Inflammation of the conjunctiva in a newborn due to Neisseria gonorrhoeae which was acquired during labor and delivery. phenio_relaxed_subqs.owl NCIT:C53656 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_243321006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000829 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0009770 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006777 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A74.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_077.98 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003235 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C116817 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_231861005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007324 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0009782 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003900 biolink:NamedThing connective tissue disorder A disease involving the connective tissue. phenio_relaxed_subqs.owl DOID:65 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003240 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000654 biolink:NamedThing benign connective and soft tissue neoplasm A non-metastasizing neoplasm that arises from the connective and soft tissue. Representative examples include lipoma, leiomyoma, fibroma, and osteoma. phenio_relaxed_subqs.owl MONDO:0001910 biolink:NamedThing ochronosis disorder A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis. phenio_relaxed_subqs.owl MONDO:0002183 biolink:NamedThing enthesopathy A disorder involving the attachment of a tendon or ligament to a bone phenio_relaxed_subqs.owl MONDO:0002400 biolink:NamedThing synovitis Inflammation of a synovial membrane. phenio_relaxed_subqs.owl MONDO:0004603 biolink:NamedThing collagenopathy phenio_relaxed_subqs.owl MONDO:0004830 biolink:NamedThing fasciitis Inflammation process in fascia. phenio_relaxed_subqs.owl MONDO:0004902 biolink:NamedThing interstitial keratitis phenio_relaxed_subqs.owl MONDO:0004934 biolink:NamedThing periostitis Inflammation of the periosteum. The condition is generally chronic, and is marked by tenderness and swelling of the bone and an aching pain. Acute periostitis is due to infection, is characterized by diffuse suppuration, severe pain, and constitutional symptoms, and usually results in necrosis. (Dorland, 27th ed) phenio_relaxed_subqs.owl MONDO:0005554 biolink:NamedThing rheumatic disorder Inflammatory and degenerative diseases of connective tissue structures, such as arthritis. phenio_relaxed_subqs.owl MONDO:0006591 biolink:NamedThing panniculitis Inflammation of the subcutaneous adipose tissue. phenio_relaxed_subqs.owl MONDO:0006763 biolink:NamedThing frozen shoulder Inflammation or irritation of a bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin. phenio_relaxed_subqs.owl MONDO:0016663 biolink:NamedThing overlapping connective tissue disease phenio_relaxed_subqs.owl MONDO:0018301 biolink:NamedThing interstitial cystitis A rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain. phenio_relaxed_subqs.owl MONDO:0021581 biolink:NamedThing connective tissue neoplasm Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue. phenio_relaxed_subqs.owl MONDO:0023603 biolink:NamedThing hereditary disorder of connective tissue An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome. phenio_relaxed_subqs.owl MONDO:0100010 biolink:NamedThing tendinopathy Disorders that are causes by overuse of tendons. phenio_relaxed_subqs.owl NCIT:C26729 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_105969002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0010078 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005718 biolink:NamedThing Coronaviridae infectious disease Virus diseases caused by coronaviridae. phenio_relaxed_subqs.owl MONDO:0005719 biolink:NamedThing Coronavinae infectious disease Virus diseases caused by the coronavirus genus. Some specifics include transmissible enteritis of turkeys (enteritis, transmissible, of turkeys); feline infectious peritonitis; and transmissible gastroenteritis of swine (gastroenteritis, transmissible, of swine). phenio_relaxed_subqs.owl MONDO:0020753 biolink:NamedThing Orthocoronavirinae infectious disease Infectious disease causes by viruses in the subfamily Orthocoronavirinae (coronaviruses). In humans, coronaviruses cause respiratory tract infections that can be mild, such as some cases of the common cold (among other possible causes, predominantly rhinoviruses), and others that can be lethal, such as SARS, MERS, and COVID-19. phenio_relaxed_subqs.owl EFO:0007223 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0010232 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005720 biolink:NamedThing cowpox A mild, eruptive skin disease of milk cows caused by cowpox virus, with lesions occurring principally on the udder and teats. Human infection may occur while milking an infected animal. phenio_relaxed_subqs.owl DOID:8956 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B08.010 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015605 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_70090004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007225 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0010246 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005721 biolink:NamedThing coxsackievirus infectious disease A heterogeneous group of infections produced by coxsackieviruses, including herpangina, aseptic meningitis (meningitis, aseptic), a common-cold-like syndrome, a non-paralytic poliomyelitis-like syndrome, epidemic pleurodynia (pleurodynia, epidemic) and a serious myocarditis. phenio_relaxed_subqs.owl DOID:10545 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003384 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000241 biolink:NamedThing Keshan disease A congestive cardiomyopathy caused by a combination of dietary deficiency of selenium and the presence of a mutated strain of Coxsackievirus. phenio_relaxed_subqs.owl MONDO:0005779 biolink:NamedThing hand, foot and mouth disease A clinical syndrome that is usually caused by enterovirus infection, and that is characterized by fever, anorexia, and painful sores in the mouth, distal extremities, and/or other sites, including the buttocks. phenio_relaxed_subqs.owl EFO:0007226 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0010308 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018612 biolink:NamedThing congenital hypothyroidism A thyroid hormone deficiency present from birth. phenio_relaxed_subqs.owl DOID:0050328 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001487 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003409 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000045 biolink:NamedThing hypothyroidism, congenital, nongoitrous phenio_relaxed_subqs.owl MONDO:0015792 biolink:NamedThing transient congenital hypothyroidism A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone. phenio_relaxed_subqs.owl MONDO:0016408 biolink:NamedThing permanent congenital hypothyroidism Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth. phenio_relaxed_subqs.owl MONDO:0019858 biolink:NamedThing idiopathic congenital hypothyroidism Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown. phenio_relaxed_subqs.owl MONDO:0043103 biolink:NamedThing hypothyroidism due to iodide transport defect A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition. phenio_relaxed_subqs.owl NCIT:C26734 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_190268003 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_217710005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:442 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0010314 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007404 biolink:NamedThing Cri-du-chat syndrome Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism. phenio_relaxed_subqs.owl UMLS:CN776901 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12580 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006213 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_758.31 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003410 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34518 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:123450 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_70173007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:281 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0010324 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009044 biolink:NamedThing Crigler-Najjar syndrome Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2. phenio_relaxed_subqs.owl UMLS:CN119421 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3803 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E80.5 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003414 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011725 biolink:NamedThing Crigler-Najjar syndrome type 2 Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1. phenio_relaxed_subqs.owl MONDO:0021020 biolink:NamedThing Crigler-Najjar syndrome type 1 Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT). phenio_relaxed_subqs.owl NCIT:C84656 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_28259009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:205 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0010380 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005722 biolink:NamedThing croup Acute upper respiratory airways infection that results in the swelling of the larynx. It is usually caused by parainfluenza viruses. Signs include a characteristic barking cough and stridor. phenio_relaxed_subqs.owl DOID:9395 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_464.4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003440 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C26735 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_71186008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007227 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0010414 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005724 biolink:NamedThing cryptococcosis An acute or chronic, localized or disseminated infection by Cryptococcus neoformans. Sites of involvement include the lungs, central nervous system and meninges, skin, and visceral organs.--2004 phenio_relaxed_subqs.owl DOID:12053 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006218 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B45 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_117.5 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003453 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005723 biolink:NamedThing Cryptococcal meningitis Meningeal inflammation produced by cryptococcus neoformans, an encapsulated yeast that tends to infect individuals with acquired immunodeficiency syndrome and other immunocompromised states. The organism enters the body through the respiratory tract, but symptomatic infections are usually limited to the lungs and nervous system. The organism may also produce parenchymal brain lesions (torulomas). Clinically, the course is subacute and may feature headache; nausea; photophobia; focal neurologic deficits; seizures; cranial neuropathies; and hydrocephalus. (From Adams et al., Principles of Neurology, 6th ed, pp721-2) phenio_relaxed_subqs.owl NCIT:C2967 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_42386007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007229 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1546 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0010418 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0520796 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1733 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006219 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A07.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003457 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128408 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_66160001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1549 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0010481 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018912 biolink:NamedThing Cushing syndrome Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin. phenio_relaxed_subqs.owl OBO:GARD_0006224 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E24 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003480 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020528 biolink:NamedThing ACTH-dependent Cushing syndrome Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH). phenio_relaxed_subqs.owl MONDO:0020529 biolink:NamedThing ACTH-independent Cushing syndrome Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC). phenio_relaxed_subqs.owl NCIT:C2969 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0003099 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:553 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0010674 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009061 biolink:NamedThing cystic fibrosis Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity. phenio_relaxed_subqs.owl DOID:1485 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006233 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E84 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003550 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C2975 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:219700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_190905008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:586 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0010678 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015484 biolink:NamedThing cysticercosis Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of Taenia solium (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs. phenio_relaxed_subqs.owl UMLS:C0338437 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10079 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008194 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B69 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_123.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003551 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34520 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_59051007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007231 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1560 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0010690 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016239 biolink:NamedThing cystinosis Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular. phenio_relaxed_subqs.owl UMLS:CN035091 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1064 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006236 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E72.04 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003554 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009064 biolink:NamedThing ocular cystinosis Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations. phenio_relaxed_subqs.owl MONDO:0100151 biolink:NamedThing nephropathic cystinosis An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction. phenio_relaxed_subqs.owl NCIT:C2976 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_190681003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:213 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0010691 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009067 biolink:NamedThing cystinuria Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones. phenio_relaxed_subqs.owl DOID:9266 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006237 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003555 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019745 biolink:NamedThing cystinuria type A phenio_relaxed_subqs.owl MONDO:0019746 biolink:NamedThing cystinuria type B phenio_relaxed_subqs.owl NCIT:C84664 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:220100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_85020001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:214 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0010823 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005132 biolink:NamedThing cytomegalovirus infection A herpesvirus infection caused by Cytomegalovirus. Healthy individuals generally do not produce symptoms. However, the infection may be life-threatening in affected immunocompromised patients. The virus may cause retinitis, esophagitis, gastritis, and colitis. Morphologically, it is characterized by the presence of intranuclear inclusion bodies. phenio_relaxed_subqs.owl OBO:ICD9_078.5 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003586 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000878 biolink:NamedThing cytomegalovirus retinitis Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in aids patients and can cause blindness. phenio_relaxed_subqs.owl MONDO:0017409 biolink:NamedThing fetal cytomegalovirus syndrome An infection with the Cytomegalovirus that is present from birth. phenio_relaxed_subqs.owl MONDO:0018108 biolink:NamedThing idiopathic disseminated cytomegalovirus infection phenio_relaxed_subqs.owl MONDO:0024354 biolink:NamedThing cytomegalovirus pneumonia Pneumonia caused by cytomegalovirus. Most humans are exposed to cytomegalovirus. Healthy individuals do not develop signs and symptoms of infection. Patients with weakened immune system (e.g., AIDS patients, cancer patients who are being treated with chemotherapy, and patients who have received bone marrow or solid organ transplants) develop signs and symptoms of infection. They include cough, shortness of breath, fatigue, malaise, fever, muscle and joint pain, and excessive sweating. phenio_relaxed_subqs.owl NCIT:C53649 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_28944009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0001062 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0010964 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009072 biolink:NamedThing Dandy-Walker syndrome Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia. phenio_relaxed_subqs.owl DOID:2785 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006242 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003616 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017110 biolink:NamedThing isolated Dandy-Walker malformation with hydrocephalus phenio_relaxed_subqs.owl MONDO:0017111 biolink:NamedThing isolated Dandy-Walker malformation without hydrocephalus phenio_relaxed_subqs.owl MONDO:0022930 biolink:NamedThing Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia phenio_relaxed_subqs.owl NCIT:C75012 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:220200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_14447001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000890 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:217 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0011195 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050540 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009204 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C133087 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:145900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111499002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:64748 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0011206 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0045057 biolink:NamedThing delirium A disorder characterized by confusion; inattentiveness; disorientation; illusions; hallucinations; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2) phenio_relaxed_subqs.owl OBO:MESH_D003693 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004629 biolink:NamedThing subacute delirium phenio_relaxed_subqs.owl OBO:SCTID_2776000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009267 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0011269 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004648 biolink:NamedThing vascular dementia A degenerative vascular disorder affecting the brain. It is caused by the blockage of the blood supply to the brain. It is manifested with decline of memory and cognitive functions. phenio_relaxed_subqs.owl DOID:8725 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015140 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0043224 biolink:NamedThing multi-infarct dementia A common form of dementia caused by multiple cortical or subcortical cerebral infarctions. phenio_relaxed_subqs.owl NCIT:C34525 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_429998004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0004718 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0011311 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005502 biolink:NamedThing dengue disease Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS). phenio_relaxed_subqs.owl DOID:12205 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006254 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_061 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003715 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000259 biolink:NamedThing asymptomatic dengue phenio_relaxed_subqs.owl MONDO:0005358 biolink:NamedThing Dengue hemorrhagic fever A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death. phenio_relaxed_subqs.owl NCIT:C34528 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_38362002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005547 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99828 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0011436 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018849 biolink:NamedThing dentinogenesis imperfecta Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development. phenio_relaxed_subqs.owl DOID:4154 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006258 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003811 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007441 biolink:NamedThing dentinogenesis imperfecta type 2 Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth. phenio_relaxed_subqs.owl MONDO:0007442 biolink:NamedThing dentinogenesis imperfecta type 3 Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy). phenio_relaxed_subqs.owl NCIT:C84667 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_196286005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:49042 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0011630 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002040 biolink:NamedThing dermatomycosis Superficial infections of the skin or its appendages by any of various fungi. phenio_relaxed_subqs.owl DOID:1563 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003881 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001616 biolink:NamedThing lobomycosis A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol. phenio_relaxed_subqs.owl MONDO:0005757 biolink:NamedThing eumycotic mycetoma A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by fungi and actinomycetes. phenio_relaxed_subqs.owl UMLS:C0011633 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016367 biolink:NamedThing dermatomyositis Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness. phenio_relaxed_subqs.owl DOID:10223 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006263 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_710.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003882 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001907 biolink:NamedThing adult dermatomyositis Dermatomyositis in an adult. phenio_relaxed_subqs.owl MONDO:0008054 biolink:NamedThing juvenile dermatomyositis Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations. phenio_relaxed_subqs.owl MONDO:0018359 biolink:NamedThing neonatal dermatomyositis phenio_relaxed_subqs.owl MONDO:0043317 biolink:NamedThing amyopathic dermatomyositis Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin. phenio_relaxed_subqs.owl NCIT:C26744 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_396230008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000398 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:221 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0011636 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004678 biolink:NamedThing dermatophytosis A common fungal infection of the stratum corneum of the skin, hair, or nails by a dermatophyte. It is characterized by itching, inflammation, redness of the skin, small papular vesicles, central clearing, fissures, scaling, and/or hair loss in the affected area. phenio_relaxed_subqs.owl DOID:8913 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B35 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_110.9 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000242 biolink:NamedThing tinea barbae A dermatophytosis that involves the beard. phenio_relaxed_subqs.owl MONDO:0000243 biolink:NamedThing ectothrix infectious disease A dermatophyte infection of the hair that infects the hair surface. phenio_relaxed_subqs.owl MONDO:0000244 biolink:NamedThing endothrix infectious disease A dermatophyte infection of the hair that nvade the hair shaft and internalize into the hair cell. phenio_relaxed_subqs.owl MONDO:0001405 biolink:NamedThing dermatophytosis of groin and perianal area Dermatophytosis involving the stratum corneum of the skin of the groin and perianal area. phenio_relaxed_subqs.owl MONDO:0001461 biolink:NamedThing tinea corporis A dermatophyte disease of the glabrous skin, excluding the scalp, beard, face, hands, feet, and groin. phenio_relaxed_subqs.owl MONDO:0001628 biolink:NamedThing tinea unguium A fungal infection of the nail, usually caused by dermatophytes; yeasts; or nondermatophyte molds. phenio_relaxed_subqs.owl MONDO:0001698 biolink:NamedThing tinea profunda A dermatophytosis that involves the deep dermal layers. phenio_relaxed_subqs.owl MONDO:0001699 biolink:NamedThing tinea manuum A dermatophytosis that involves the hands. phenio_relaxed_subqs.owl MONDO:0002967 biolink:NamedThing dermatophytosis of scalp or beard Dermatophytosis involving the stratum corneum of the skin of the scalp and beard area. phenio_relaxed_subqs.owl MONDO:0005984 biolink:NamedThing tinea pedis Dermatological pruritic lesion in the feet, caused by Trichophyton rubrum, T. mentagrophytes, or Epidermophyton floccosum. phenio_relaxed_subqs.owl MONDO:0020709 biolink:NamedThing Majocchi granuloma An inflammatory and granulomatous, dermatophytic infection that is classified into two forms, depending on the affected individual’s health situation and clinical picture. The first form is mainly observed in healthy individuals and is defined as a perifollicular, papular form induced by penetrating trauma that is mostly observed in the lower extremities. The second form is granulomatous, related to immunosuppression, seen in a nodular form, and usually appears on the upper extremities. phenio_relaxed_subqs.owl NCIT:C26745 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_47382004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0011638 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11917 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34535 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_399029005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0011640 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1274426 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4337 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_110.0 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34536 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_266148000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0011645 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007446 biolink:NamedThing dermatosis papulosa nigra A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body. phenio_relaxed_subqs.owl DOID:4400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562379 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C2984 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:125600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254669003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000686 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0011847 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005015 biolink:NamedThing diabetes mellitus A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization. phenio_relaxed_subqs.owl UMLS:C0011849 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9351 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E08-E13 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003920 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005147 biolink:NamedThing type 1 diabetes mellitus A chronic condition characterized by minimal or absent production of insulin by the pancreas. phenio_relaxed_subqs.owl MONDO:0005148 biolink:NamedThing type 2 diabetes mellitus A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity. phenio_relaxed_subqs.owl MONDO:0005406 biolink:NamedThing gestational diabetes Carbohydrate intolerance first diagnosed during pregnancy. phenio_relaxed_subqs.owl MONDO:0006920 biolink:NamedThing prediabetes syndrome A condition in which blood glucose levels are high, but not high enough to be classified as type 2 diabetes. phenio_relaxed_subqs.owl MONDO:0008185 biolink:NamedThing hereditary chronic pancreatitis Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas. phenio_relaxed_subqs.owl MONDO:0008491 biolink:NamedThing stiff-person syndrome Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis. phenio_relaxed_subqs.owl MONDO:0008696 biolink:NamedThing acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. phenio_relaxed_subqs.owl MONDO:0008812 biolink:NamedThing AREDYLD syndrome AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait. phenio_relaxed_subqs.owl MONDO:0009192 biolink:NamedThing Wolcott-Rallison syndrome Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure. phenio_relaxed_subqs.owl MONDO:0009419 biolink:NamedThing Woodhouse-Sakati syndrome Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. phenio_relaxed_subqs.owl MONDO:0009517 biolink:NamedThing Donohue syndrome Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation. phenio_relaxed_subqs.owl MONDO:0009575 biolink:NamedThing thiamine-responsive megaloblastic anemia syndrome Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness. phenio_relaxed_subqs.owl MONDO:0009874 biolink:NamedThing Rabson-Mendenhall syndrome Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes). phenio_relaxed_subqs.owl MONDO:0010026 biolink:NamedThing SHORT syndrome SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease. phenio_relaxed_subqs.owl MONDO:0010773 biolink:NamedThing myopathy and diabetes mellitus phenio_relaxed_subqs.owl MONDO:0010785 biolink:NamedThing maternally-inherited diabetes and deafness Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness. phenio_relaxed_subqs.owl MONDO:0010802 biolink:NamedThing pancreatic hypoplasia-diabetes-congenital heart disease syndrome Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis). phenio_relaxed_subqs.owl MONDO:0012520 biolink:NamedThing insulin-resistance syndrome type A Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight. phenio_relaxed_subqs.owl MONDO:0012819 biolink:NamedThing diabetic ketoacidosis The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids. phenio_relaxed_subqs.owl MONDO:0013225 biolink:NamedThing congenital generalized lipodystrophy type 4 Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene. phenio_relaxed_subqs.owl MONDO:0013478 biolink:NamedThing PLIN1-related familial partial lipodystrophy phenio_relaxed_subqs.owl MONDO:0014497 biolink:NamedThing polyendocrine-polyneuropathy syndrome phenio_relaxed_subqs.owl MONDO:0014523 biolink:NamedThing juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome phenio_relaxed_subqs.owl MONDO:0015308 biolink:NamedThing laminopathy type Decaudain-Vigouroux Laminopathy, type Decaudain-Vigouroux is characterised by severe metabolic alterations (insulin resistance or hyperinsulinaemia, hypertriglyceridaemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness. phenio_relaxed_subqs.owl MONDO:0015967 biolink:NamedThing monogenic diabetes Rare genetic diabetes mellitus. phenio_relaxed_subqs.owl MONDO:0016391 biolink:NamedThing neonatal diabetes mellitus Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life. phenio_relaxed_subqs.owl MONDO:0016464 biolink:NamedThing insulin-resistance syndrome type B Type B insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome, and type A insulin resistance syndrome) and occurs in the context of immune dysfunction. phenio_relaxed_subqs.owl MONDO:0017230 biolink:NamedThing autosomal semi-dominant severe lipodystrophic laminopathy phenio_relaxed_subqs.owl MONDO:0018320 biolink:NamedThing primary microcephaly-mild intellectual disability-young-onset diabetes syndrome phenio_relaxed_subqs.owl MONDO:0018573 biolink:NamedThing intrauterine growth restriction-short stature-early adult-onset diabetes syndrome phenio_relaxed_subqs.owl MONDO:0018575 biolink:NamedThing microcephalic primordial dwarfism-insulin resistance syndrome phenio_relaxed_subqs.owl MONDO:0018911 biolink:NamedThing maturity-onset diabetes of the young MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes. phenio_relaxed_subqs.owl MONDO:0019017 biolink:NamedThing short fifth metacarpals-insulin resistance syndrome Short fifth metacarpals-insulin resistance syndrome is characterised by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant. phenio_relaxed_subqs.owl MONDO:0019193 biolink:NamedThing acquired generalized lipodystrophy Acquired generalized lipodystrophy belongs to a group of lipodystrophic syndromes characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles). phenio_relaxed_subqs.owl NCIT:C2985 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_73211009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0011880 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1837 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_250.10 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016883 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612227 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_420422005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000897 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0011884 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005266 biolink:NamedThing diabetic retinopathy A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness. phenio_relaxed_subqs.owl DOID:8947 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003930 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001660 biolink:NamedThing proliferative diabetic retinopathy Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness. phenio_relaxed_subqs.owl MONDO:0004728 biolink:NamedThing diabetic macular edema phenio_relaxed_subqs.owl NCIT:C34538 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_4855003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0003770 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0011989 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007542 biolink:NamedThing Camurati-Engelmann disease Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. phenio_relaxed_subqs.owl DOID:4997 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001072 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84610 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:131300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_318761000119105 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1328 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0011993 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019960 biolink:NamedThing VIPoma VIPoma is an extremely rare type of pancreatic neuroendocrine tumor that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome). phenio_relaxed_subqs.owl DOID:5574 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003787 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005493 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003969 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003621 biolink:NamedThing small intestinal vasoactive intestinal peptide producing tumor A neuroendocrine tumor that arises from the small intestine and produces vasoactive intestinal peptide. phenio_relaxed_subqs.owl MONDO:0003622 biolink:NamedThing pancreatic vasoactive intestinal peptide producing tumor A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It may or may not be associated with inappropriate secretion of VIP and an associated clinical syndrome. phenio_relaxed_subqs.owl NCIT:C26749 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_253005002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000622 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:97282 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0012102 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005729 biolink:NamedThing dicrocoeliasis Infection with flukes of the genus Dicrocoelium. phenio_relaxed_subqs.owl UMLS:C1737210 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1219 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004011 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_105668007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007234 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0012118 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005730 biolink:NamedThing Dictyocaulus infectious disease Infection with nematodes of the genus dictyocaulus. In deer, cattle, sheep, and horses the bronchi are the site of infestation. phenio_relaxed_subqs.owl OBO:MESH_D004022 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007235 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0012482 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000298 biolink:NamedThing dioctophymiasis A disease caused by infection with Dioctophyme renale. phenio_relaxed_subqs.owl DOID:0050260 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_40410004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0012517 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005731 biolink:NamedThing dipetalonemiasis A parasitic infection caused by genus of filarial worms called Dipetalonema. It produces microfilariae in the blood and body fluids. phenio_relaxed_subqs.owl DOID:14422 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000004 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_125.4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004154 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34540 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_15629006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007237 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0012546 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005504 biolink:NamedThing diphtheria A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects. phenio_relaxed_subqs.owl DOID:11405 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001875 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A36 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_032.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004165 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020838 biolink:NamedThing anterior nasal diphtheria Infection of the anterior nasal structures by Corynebacterium diphtheriae. phenio_relaxed_subqs.owl MONDO:0020843 biolink:NamedThing pseudomembranous diphtheritic conjunctivitis Pseudomembranous colitis resulting from infection by Corynebacterium diphtheriae. phenio_relaxed_subqs.owl MONDO:0020860 biolink:NamedThing faucial diphtheria Infection of the fauces by Corynebacterium diphtheriae. phenio_relaxed_subqs.owl MONDO:0020863 biolink:NamedThing laryngeal diphtheria Infection of the larynx by Corynebacterium diphtheriae. phenio_relaxed_subqs.owl MONDO:0020866 biolink:NamedThing nasopharyngeal diphtheria Infection of the nasopharynx by Corynebacterium diphtheriae. phenio_relaxed_subqs.owl MONDO:0041259 biolink:NamedThing diphtheritic myocarditis An myocarditis caused by infection with Corynebacterium diphtheriae. phenio_relaxed_subqs.owl NCIT:C34541 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_397428000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005549 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1679 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0012553 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34542 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_15682004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0012554 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34543 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_7773002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0012555 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001479 biolink:NamedThing cutaneous diphtheria A usually mild form of diphtheria characterized by infection of the skin by corynebacterium diphtheria and the resulting formation of a chronic, shallow ulcer that is sometimes bordered or followed by a bulla. phenio_relaxed_subqs.owl DOID:12275 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A36.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_032.85 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34544 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_18901009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000683 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0012561 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015260 biolink:NamedThing diphyllobothriasis Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anaemia caused by vitamin B12 deficiency that resembles Biermer anaemia (anaemia characterised by abnormally large red blood cells). phenio_relaxed_subqs.owl DOID:10075 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000942 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B70.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004169 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128391 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_187151009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007238 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:128 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0012602 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015636 biolink:NamedThing dirofilariasis Infection with nematodes of the genus dirofilaria, usually in animals, especially dogs, but occasionally in humans. phenio_relaxed_subqs.owl DOID:1082 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0011908 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004184 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_73328005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007239 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:166291 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0012634 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000001 biolink:NamedThing disease or disorder A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism. phenio_relaxed_subqs.owl DOID:4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004194 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000261 biolink:NamedThing adenoiditis An inflammatory disease involving a pathogenic inflammatory response in the pharyngeal tonsil. phenio_relaxed_subqs.owl MONDO:0000263 biolink:NamedThing laryngotracheitis An inflammation of both larynx and trachea. phenio_relaxed_subqs.owl MONDO:0000270 biolink:NamedThing lower respiratory tract disorder A disease involving the lower respiratory tract. phenio_relaxed_subqs.owl MONDO:0000286 biolink:NamedThing Epstein-Barr virus hepatitis A viral hepatitis that results in inflammation, located in liver, has material basis in Human herpesvirus 4 and has symptom headache, has symptom fatigue, has symptom fever, has symptom abdominal pain, has symptom nausea, and has symptom jaundice. phenio_relaxed_subqs.owl MONDO:0000425 biolink:NamedThing X-linked disease X-linked form of disease. phenio_relaxed_subqs.owl MONDO:0000426 biolink:NamedThing autosomal dominant disease Autosomal dominant form of disease. phenio_relaxed_subqs.owl MONDO:0000428 biolink:NamedThing Y-linked disease Y-linked form of disease. phenio_relaxed_subqs.owl MONDO:0000462 biolink:NamedThing eye adnexa disorder A disease involving the ocular adnexa. phenio_relaxed_subqs.owl MONDO:0000469 biolink:NamedThing sinoatrial node disorder A disease involving the sinoatrial node. phenio_relaxed_subqs.owl MONDO:0000470 biolink:NamedThing endocardium disorder A disease involving the endocardium. phenio_relaxed_subqs.owl MONDO:0000471 biolink:NamedThing tricuspid valve disorder A disease involving the tricuspid valve. phenio_relaxed_subqs.owl MONDO:0000473 biolink:NamedThing arterial disorder An impairment of the structure or function of the blood vessels which carry blood away from the heart. phenio_relaxed_subqs.owl MONDO:0000474 biolink:NamedThing pericardium disorder A disease involving the pericardium. phenio_relaxed_subqs.owl MONDO:0000497 biolink:NamedThing pyometritis Inflammation of uterine musculature associated with pus in the uterine cavity. phenio_relaxed_subqs.owl MONDO:0000739 biolink:NamedThing uvulitis Inflammation of the uvula. phenio_relaxed_subqs.owl MONDO:0000748 biolink:NamedThing mastoiditis Inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process. phenio_relaxed_subqs.owl MONDO:0000812 biolink:NamedThing vertebral column disorder A disease involving the vertebral column. phenio_relaxed_subqs.owl MONDO:0000888 biolink:NamedThing gastrointestinal mucositis Inflammation of the mucous membranes lining the gastrointestinal tract. phenio_relaxed_subqs.owl MONDO:0000918 biolink:NamedThing endometritis An acute or chronic, usually bacterial infectious process affecting the endometrium. It may extend to the myometrium and parametrial tissues. Symptoms include lower abdominal pain, vaginal discharge, and vaginal bleeding. phenio_relaxed_subqs.owl MONDO:0000922 biolink:NamedThing pelvic inflammatory disease Pelvic inflammatory disease (PID) is an acute or chronic inflammation in the pelvic cavity. It is most commonly caused by sexually transmitted diseases, including chlamydia and gonorrhea that have ascended into the uterus, fallopian tubes, or ovaries as a result of intercourse or childbirth, or of surgical procedures, including insertion of IUDs or abortion. PID may be either symptomatic or asymptomatic. It may cause infertility and it may raise the risk of ectopic pregnancy. PID is a disease associated with HIV infection. phenio_relaxed_subqs.owl MONDO:0000931 biolink:NamedThing endometrial disorder A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma. phenio_relaxed_subqs.owl MONDO:0000942 biolink:NamedThing corneal disorder A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma. phenio_relaxed_subqs.owl MONDO:0000986 biolink:NamedThing pleurisy Inflammation of the pleura. It is usually caused by infections. Chest pain while breathing or coughing is the presenting symptom. phenio_relaxed_subqs.owl MONDO:0000987 biolink:NamedThing cholesterolosis of gallbladder A disorder characterized by a change in the gallbladder wall due to excess cholesterol. phenio_relaxed_subqs.owl MONDO:0001039 biolink:NamedThing tonsillitis Inflammation of the tonsillar tissue. phenio_relaxed_subqs.owl MONDO:0001040 biolink:NamedThing nasopharyngitis An inflammatory process that affects the nasopharynx. phenio_relaxed_subqs.owl MONDO:0001109 biolink:NamedThing petrositis Inflammation of petrous bone. phenio_relaxed_subqs.owl MONDO:0001121 biolink:NamedThing frontal sinusitis An acute or chronic inflammatory process affecting the mucous membrane of the frontal sinus. phenio_relaxed_subqs.owl MONDO:0001142 biolink:NamedThing salivary gland disorder A disease involving the saliva-secreting gland. phenio_relaxed_subqs.owl MONDO:0001165 biolink:NamedThing tongue disorder A disease involving the tongue. phenio_relaxed_subqs.owl MONDO:0001166 biolink:NamedThing nephritis Inflammation of renal tissue. phenio_relaxed_subqs.owl MONDO:0001172 biolink:NamedThing salpingo-oophoritis phenio_relaxed_subqs.owl MONDO:0001174 biolink:NamedThing conjunctival vascular disorder A disorder of the vasculature of the cornea. phenio_relaxed_subqs.owl MONDO:0001176 biolink:NamedThing lens disorder A disease involving the lens of camera-type eye. phenio_relaxed_subqs.owl MONDO:0001223 biolink:NamedThing parathyroid gland disorder A disease involving the parathyroid gland. phenio_relaxed_subqs.owl MONDO:0001269 biolink:NamedThing scleral disorder A disorder affecting the sclera. Examples include inflammatory processes (e.g., scleritis and episcleritis), and degenerative processes. Primary tumors of the sclera are extremely rare. phenio_relaxed_subqs.owl MONDO:0001277 biolink:NamedThing cerebral arteritis An inflammatory disease involving a pathogenic inflammatory response in the cerebral artery. phenio_relaxed_subqs.owl MONDO:0001280 biolink:NamedThing choroiditis An inflammatory process that affects the choroid. phenio_relaxed_subqs.owl MONDO:0001292 biolink:NamedThing autonomic nervous system disorder A disease involving the autonomic nervous system. phenio_relaxed_subqs.owl MONDO:0001324 biolink:NamedThing hyperandrogenism A condition caused by the excessive secretion of androgens from the adrenal cortex; the ovaries; or the testes. The clinical significance in males is negligible. In women, the common manifestations are hirsutism and virilism as seen in patients with polycystic ovary syndrome and adrenocortical hyperfunction. phenio_relaxed_subqs.owl MONDO:0001343 biolink:NamedThing impaired renal function disease Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction. phenio_relaxed_subqs.owl MONDO:0001358 biolink:NamedThing bronchial disorder A disease involving the bronchus. phenio_relaxed_subqs.owl MONDO:0001409 biolink:NamedThing esophagitis An acute or chronic inflammatory disease affecting the esophageal wall. phenio_relaxed_subqs.owl MONDO:0001433 biolink:NamedThing vaginal disorder A non-neoplastic or neoplastic disorder that affects the vagina. Representative examples include vaginal infection, vaginal polyp, and vaginal squamous cell carcinoma. phenio_relaxed_subqs.owl MONDO:0001506 biolink:NamedThing prostatocystitis phenio_relaxed_subqs.owl MONDO:0001531 biolink:NamedThing blood coagulation disease A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood. phenio_relaxed_subqs.owl MONDO:0001535 biolink:NamedThing vagus nerve disorder A disease involving the vagus nerve. phenio_relaxed_subqs.owl MONDO:0001551 biolink:NamedThing ulceration of vulva phenio_relaxed_subqs.owl MONDO:0001563 biolink:NamedThing vestibulocochlear nerve disorder A disease involving the vestibulocochlear nerve. phenio_relaxed_subqs.owl MONDO:0001574 biolink:NamedThing capillary disorder A disease involving a capillary. phenio_relaxed_subqs.owl MONDO:0001593 biolink:NamedThing rectal disorder A disease that involves the rectum. phenio_relaxed_subqs.owl MONDO:0001597 biolink:NamedThing submandibular gland disorder A disease involving the submandibular gland. phenio_relaxed_subqs.owl MONDO:0001618 biolink:NamedThing balanoposthitis phenio_relaxed_subqs.owl MONDO:0001673 biolink:NamedThing diarrheal disease The condition of having at least three loose or liquid bowel movements each day. phenio_relaxed_subqs.owl MONDO:0001732 biolink:NamedThing trigonitis Inflammation of the trigone of the urinary bladder. phenio_relaxed_subqs.owl MONDO:0001735 biolink:NamedThing paranasal sinus disorder A disease involving the paranasal sinus. phenio_relaxed_subqs.owl MONDO:0001810 biolink:NamedThing hypoglossal nerve disorder A disease involving the hypoglossal nerve. phenio_relaxed_subqs.owl MONDO:0001816 biolink:NamedThing scleroperikeratitis phenio_relaxed_subqs.owl MONDO:0001834 biolink:NamedThing visual pathway disorder A disorder of the neural pathway from the optic nerve to the visual cortex. phenio_relaxed_subqs.owl MONDO:0001854 biolink:NamedThing lacrimal apparatus disorder A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus. phenio_relaxed_subqs.owl MONDO:0001873 biolink:NamedThing geniculate ganglionitis Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation. phenio_relaxed_subqs.owl MONDO:0001875 biolink:NamedThing epicondylitis Inflammation of the lateral epicondyle. phenio_relaxed_subqs.owl MONDO:0001898 biolink:NamedThing optic choroid disorder A disease involving the optic choroid. phenio_relaxed_subqs.owl MONDO:0001926 biolink:NamedThing ureteral disorder A non-neoplastic or neoplastic disorder affecting the ureter. phenio_relaxed_subqs.owl MONDO:0001933 biolink:NamedThing endocrine pancreas disorder A disease involving the endocrine pancreas. phenio_relaxed_subqs.owl MONDO:0002008 biolink:NamedThing labyrinthitis Inflammation of the inner ear. The cause is often not clear. It may be due to a virus, but it can also arise from bacterial infection, head injury, extreme stress, an allergy, or as a reaction to medication. phenio_relaxed_subqs.owl MONDO:0002021 biolink:NamedThing gingival disorder A disease involving the gingiva. phenio_relaxed_subqs.owl MONDO:0002022 biolink:NamedThing disorder of orbital region A disease that involves the orbital region. phenio_relaxed_subqs.owl MONDO:0002025 biolink:NamedThing psychiatric disorder A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia. phenio_relaxed_subqs.owl MONDO:0002031 biolink:NamedThing cecal disorder Pathological developments in the cecum. phenio_relaxed_subqs.owl MONDO:0002036 biolink:NamedThing penile disorder A non-neoplastic or neoplastic disorder that affects the penis. Representative examples of non-neoplastic disorders include phimosis, balanitis, and hypospadias. Representative examples of neoplastic disorders include hemangioma, penile intraepithelial neoplasia, and penile carcinoma. phenio_relaxed_subqs.owl MONDO:0002037 biolink:NamedThing pleural disorder A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor. phenio_relaxed_subqs.owl MONDO:0002051 biolink:NamedThing integumentary system disorder A disease involving the integumental system. phenio_relaxed_subqs.owl MONDO:0002052 biolink:NamedThing lymphadenitis Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process. phenio_relaxed_subqs.owl MONDO:0002081 biolink:NamedThing musculoskeletal system disorder A disease involving the musculoskeletal system. phenio_relaxed_subqs.owl MONDO:0002098 biolink:NamedThing facial nerve disorder A disease involving the facial nerve. phenio_relaxed_subqs.owl MONDO:0002102 biolink:NamedThing cheilitis An inflammatory process affecting the lip. phenio_relaxed_subqs.owl MONDO:0002118 biolink:NamedThing urinary system disorder A disease involving the renal system. phenio_relaxed_subqs.owl MONDO:0002135 biolink:NamedThing optic nerve disorder A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve). phenio_relaxed_subqs.owl MONDO:0002145 biolink:NamedThing difference of sexual differentiation A congenital disorder characterized by abnormalities in the development of the sexual characteristics. phenio_relaxed_subqs.owl MONDO:0002150 biolink:NamedThing hypothalamic disorder Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders. phenio_relaxed_subqs.owl MONDO:0002156 biolink:NamedThing fallopian tube disorder A disease involving the fallopian tube. phenio_relaxed_subqs.owl MONDO:0002172 biolink:NamedThing otosalpingitis An inflammatory disease involving a pathogenic inflammatory response in the pharyngotympanic tube. phenio_relaxed_subqs.owl MONDO:0002182 biolink:NamedThing communication disorder A disorder characterized by an individual's inability to comprehend or share ideas or feelings because of an impairment in language, speech, or hearing. phenio_relaxed_subqs.owl MONDO:0002203 biolink:NamedThing constipation disorder Irregular and infrequent or difficult evacuation of the bowels. phenio_relaxed_subqs.owl MONDO:0002232 biolink:NamedThing nasal cavity disorder A disease involving the nasal cavity. phenio_relaxed_subqs.owl MONDO:0002234 biolink:NamedThing vaginitis A non-infectious or infectious inflammatory process affecting the vagina. phenio_relaxed_subqs.owl MONDO:0002245 biolink:NamedThing blood platelet disease Disorders caused by abnormalities in platelet count or function. phenio_relaxed_subqs.owl MONDO:0002251 biolink:NamedThing hepatitis An active inflammatory process affecting the liver for more than six months. Causes include viral infections, autoimmune disorders, drugs, and metabolic disorders. phenio_relaxed_subqs.owl MONDO:0002254 biolink:NamedThing syndromic disease A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition. phenio_relaxed_subqs.owl MONDO:0002256 biolink:NamedThing cervix disorder A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma. phenio_relaxed_subqs.owl MONDO:0002258 biolink:NamedThing pharyngitis Inflammation of the throat most often caused by viral and bacterial infections. Other causes include allergens, chemical substances, and trauma. phenio_relaxed_subqs.owl MONDO:0002259 biolink:NamedThing gonadal disorder A non-neoplastic or neoplastic disorder that affects the testis or the ovary. phenio_relaxed_subqs.owl MONDO:0002260 biolink:NamedThing hidradenitis An inflammatory disease involving a pathogenic inflammatory response in the apocrine sweat gland. phenio_relaxed_subqs.owl MONDO:0002263 biolink:NamedThing female reproductive system disorder A disease involving the female reproductive system. phenio_relaxed_subqs.owl MONDO:0002269 biolink:NamedThing gastroenteritis An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting. phenio_relaxed_subqs.owl MONDO:0002285 biolink:NamedThing pupil disorder A disease involving the pupil. phenio_relaxed_subqs.owl MONDO:0002286 biolink:NamedThing renal artery disease A disease involving the renal artery. phenio_relaxed_subqs.owl MONDO:0002289 biolink:NamedThing iris disorder A disease involving the iris. phenio_relaxed_subqs.owl MONDO:0002307 biolink:NamedThing blepharoconjunctivitis Inflammation of both the eyelids and the conjunctiva. phenio_relaxed_subqs.owl MONDO:0002320 biolink:NamedThing congenital nervous system disorder An abnormality of the nervous system that is present at birth or detected in the neonatal period. phenio_relaxed_subqs.owl MONDO:0002329 biolink:NamedThing testicular disorder A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia. phenio_relaxed_subqs.owl MONDO:0002332 biolink:NamedThing splenic disorder A disease involving the spleen. phenio_relaxed_subqs.owl MONDO:0002356 biolink:NamedThing pancreas disorder A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms. phenio_relaxed_subqs.owl MONDO:0002406 biolink:NamedThing dermatitis An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis. phenio_relaxed_subqs.owl MONDO:0002409 biolink:NamedThing auditory system disorder A disease involving the auditory system. phenio_relaxed_subqs.owl MONDO:0002427 biolink:NamedThing cerebellar disorder Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia. phenio_relaxed_subqs.owl MONDO:0002436 biolink:NamedThing nasal disorder A disease involving the nose. phenio_relaxed_subqs.owl MONDO:0002459 biolink:NamedThing type IV hypersensitivity disease A disease that has its basis in the disruption of type IV hypersensitivity. phenio_relaxed_subqs.owl MONDO:0002467 biolink:NamedThing inner ear disorder A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems. phenio_relaxed_subqs.owl MONDO:0002468 biolink:NamedThing hyperimmunoglobulin syndrome phenio_relaxed_subqs.owl MONDO:0002471 biolink:NamedThing bursitis Inflammation or irritation of a synovial bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin. phenio_relaxed_subqs.owl MONDO:0002508 biolink:NamedThing gingivitis A disorder involving inflammation of the gums; may affect surrounding and supporting structures of the teeth. phenio_relaxed_subqs.owl MONDO:0002515 biolink:NamedThing hepatobiliary disorder A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma. phenio_relaxed_subqs.owl MONDO:0002519 biolink:NamedThing anus disorder A non-neoplastic or neoplastic disorder that affects the anal canal or anal margin. Representative examples of non-neoplastic disorders include hemorrhoids and anal ulcer. Representative examples of neoplastic disorders include carcinoma, lymphoma, and melanoma. phenio_relaxed_subqs.owl MONDO:0002545 biolink:NamedThing spinal cord disorder A disease involving the spinal cord. phenio_relaxed_subqs.owl MONDO:0002561 biolink:NamedThing lysosomal storage disease A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins. phenio_relaxed_subqs.owl MONDO:0002565 biolink:NamedThing myelitis An inflammatory process affecting the spinal cord. Causes include viral infections, autoimmune disorders, vascular disorders, and toxic agents. Symptoms include weakness, paresthesia, sensory loss, pain, and incontinence. phenio_relaxed_subqs.owl MONDO:0002567 biolink:NamedThing tracheal disorder A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma. phenio_relaxed_subqs.owl MONDO:0002602 biolink:NamedThing central nervous system disorder A disease involving the central nervous system. phenio_relaxed_subqs.owl MONDO:0002635 biolink:NamedThing periodontal disorder An inflammatory process of the gingival tissues and/or periodontal membrane of the teeth, resulting in an abnormally deep gingival sulcus, possibly producing periodontal pockets and loss of alveolar bone support. phenio_relaxed_subqs.owl MONDO:0002636 biolink:NamedThing accessory nerve disorder A disease involving the accessory XI nerve. phenio_relaxed_subqs.owl MONDO:0002639 biolink:NamedThing glossopharyngeal nerve disorder A disease involving the glossopharyngeal nerve. phenio_relaxed_subqs.owl MONDO:0002643 biolink:NamedThing vestibular disorder Pathological processes of the vestibular labyrinth which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls. phenio_relaxed_subqs.owl MONDO:0002645 biolink:NamedThing cerebritis Inflammation of the cerebrum. phenio_relaxed_subqs.owl MONDO:0002647 biolink:NamedThing laryngitis An acute or chronic, bacterial or viral inflammatory process affecting the larynx. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness. phenio_relaxed_subqs.owl MONDO:0002654 biolink:NamedThing uterine disorder A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma. phenio_relaxed_subqs.owl MONDO:0002657 biolink:NamedThing breast disorder A disease involving the breast. phenio_relaxed_subqs.owl MONDO:0002661 biolink:NamedThing uveal disorder A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma. phenio_relaxed_subqs.owl MONDO:0002708 biolink:NamedThing retinitis Inflammation of the retina. phenio_relaxed_subqs.owl MONDO:0002727 biolink:NamedThing olfactory nerve disorder A disease involving the olfactory nerve. phenio_relaxed_subqs.owl MONDO:0002776 biolink:NamedThing external ear disorder A disease involving the external ear. phenio_relaxed_subqs.owl MONDO:0002866 biolink:NamedThing duodenal disorder Pathological conditions in the duodenum region of the small intestine (intestine, small). phenio_relaxed_subqs.owl MONDO:0002869 biolink:NamedThing heart valve disorder A disease involving the cardial valve. phenio_relaxed_subqs.owl MONDO:0002884 biolink:NamedThing nail disorder A disease involving the nail. phenio_relaxed_subqs.owl MONDO:0002886 biolink:NamedThing common bile duct disorder A disease involving the common bile duct. phenio_relaxed_subqs.owl MONDO:0002887 biolink:NamedThing bile duct disorder A disease involving the bile duct. phenio_relaxed_subqs.owl MONDO:0002917 biolink:NamedThing disorder of pilosebaceous unit A disease that involves the pilosebaceous unit. phenio_relaxed_subqs.owl MONDO:0002970 biolink:NamedThing ciliary body disorder A disease involving the ciliary body. phenio_relaxed_subqs.owl MONDO:0003014 biolink:NamedThing rhinitis An inflammation of the mucous membrane lining the nose, usually associated with nasal discharge. phenio_relaxed_subqs.owl MONDO:0003019 biolink:NamedThing potassium deficiency disease Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia. phenio_relaxed_subqs.owl MONDO:0003081 biolink:NamedThing thalamic disorder A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement and sensory abnormalities, visual abnormalities, ataxia, and coma. phenio_relaxed_subqs.owl MONDO:0003085 biolink:NamedThing keratitis A corneal disease that is characterized by inflammation of the cornea. phenio_relaxed_subqs.owl MONDO:0003105 biolink:NamedThing prostate disorder A disease involving the prostate gland. phenio_relaxed_subqs.owl MONDO:0003150 biolink:NamedThing male reproductive system disorder A disease involving the male reproductive system. phenio_relaxed_subqs.owl MONDO:0003182 biolink:NamedThing anterior horn disorder Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis. phenio_relaxed_subqs.owl MONDO:0003225 biolink:NamedThing bone marrow disorder Any disease of the bone marrow. phenio_relaxed_subqs.owl MONDO:0003240 biolink:NamedThing thyroid gland disorder A disease involving the thyroid gland. phenio_relaxed_subqs.owl MONDO:0003276 biolink:NamedThing middle ear disorder A disease involving the middle ear. phenio_relaxed_subqs.owl MONDO:0003381 biolink:NamedThing pituitary gland disorder A disease involving the pituitary gland. phenio_relaxed_subqs.owl MONDO:0003382 biolink:NamedThing eyelid disorder A disease involving the eyelid. phenio_relaxed_subqs.owl MONDO:0003393 biolink:NamedThing thymus gland disorder A non-neoplastic or neoplastic disorder that affects the thymus. Representative examples include thymic hyperplasia, thymoma, and thymic carcinoma. phenio_relaxed_subqs.owl MONDO:0003394 biolink:NamedThing dental pulp disorder A disease involving the dental pulp. phenio_relaxed_subqs.owl MONDO:0003409 biolink:NamedThing colonic disorder Pathological processes in the colon region of the large intestine (intestine, large). phenio_relaxed_subqs.owl MONDO:0003452 biolink:NamedThing cochlear disorder Pathological processes of the snail-like structure (cochlea) of the inner ear (labyrinth) which can involve its nervous tissue, blood vessels, or fluid (endolymph). phenio_relaxed_subqs.owl MONDO:0003522 biolink:NamedThing male orgasm disorder Persistent delay or absence in orgasm not accounted for by a medical reason. phenio_relaxed_subqs.owl MONDO:0003543 biolink:NamedThing trigeminal nerve disorder A disease involving the trigeminal nerve. phenio_relaxed_subqs.owl MONDO:0003546 biolink:NamedThing third cranial nerve disorder A disease involving the oculomotor nerve. phenio_relaxed_subqs.owl MONDO:0003568 biolink:NamedThing disorder of optic chiasm A disease that involves the optic chiasma. phenio_relaxed_subqs.owl MONDO:0003569 biolink:NamedThing cranial nerve neuropathy A neoplastic or non-neoplastic disorder that affects one of the cranial nerves. phenio_relaxed_subqs.owl MONDO:0003579 biolink:NamedThing retinal nerve fibre layer disorder A disease that involves the nerve fiber layer of retina. phenio_relaxed_subqs.owl MONDO:0003584 biolink:NamedThing visual cortex disorder A disease involving the visual cortex. phenio_relaxed_subqs.owl MONDO:0003619 biolink:NamedThing salpingitis Acute or chronic inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy. phenio_relaxed_subqs.owl MONDO:0003620 biolink:NamedThing peripheral nervous system disorder A disease involving the peripheral nervous system. phenio_relaxed_subqs.owl MONDO:0003628 biolink:NamedThing pulmonary valve disorder A disease involving the pulmonary valve. phenio_relaxed_subqs.owl MONDO:0003632 biolink:NamedThing endocervicitis Inflammation of the endocervix. phenio_relaxed_subqs.owl MONDO:0003648 biolink:NamedThing tympanic membrane disorder A disease involving the tympanic membrane. phenio_relaxed_subqs.owl MONDO:0003749 biolink:NamedThing esophageal disorder A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas. phenio_relaxed_subqs.owl MONDO:0003767 biolink:NamedThing mitral valve disorder A disease involving the mitral valve. phenio_relaxed_subqs.owl MONDO:0003781 biolink:NamedThing bronchitis An acute or chronic inflammatory process affecting the bronchi. phenio_relaxed_subqs.owl MONDO:0003799 biolink:NamedThing conjunctivitis Inflammation of the conjunctiva of the eye. phenio_relaxed_subqs.owl MONDO:0003803 biolink:NamedThing aortic valve disorder A disease involving the aortic valve. phenio_relaxed_subqs.owl MONDO:0003816 biolink:NamedThing articular cartilage disorder A disease involving the articular cartilage of joint. phenio_relaxed_subqs.owl MONDO:0003832 biolink:NamedThing complement deficiency A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited. phenio_relaxed_subqs.owl MONDO:0003847 biolink:NamedThing Mendelian disease A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome. phenio_relaxed_subqs.owl MONDO:0003937 biolink:NamedThing spondylitis The inflammation of a vertebra. phenio_relaxed_subqs.owl MONDO:0003939 biolink:NamedThing muscle tissue disorder A disease involving the muscle tissue. phenio_relaxed_subqs.owl MONDO:0003996 biolink:NamedThing basal ganglia disorder A disease involving the basal ganglia. phenio_relaxed_subqs.owl MONDO:0004126 biolink:NamedThing thyroiditis Inflammation of the thyroid gland. This category includes Hashimoto thyroiditis, Riedel thyroiditis, acute thyroiditis, subacute thyroiditis, and radiation-induced thyroiditis. phenio_relaxed_subqs.owl MONDO:0004184 biolink:NamedThing urethral disorder A disease involving the urethra. phenio_relaxed_subqs.owl MONDO:0004235 biolink:NamedThing diverticulitis An infection that develops in the diverticula of the intestinal tract. Signs and symptoms include abdominal pain, fever, and leukocytosis. phenio_relaxed_subqs.owl MONDO:0004258 biolink:NamedThing female orgasmic disorder A sexual disorder in which a woman fails to achieve orgasm during sexual intercourse. phenio_relaxed_subqs.owl MONDO:0004298 biolink:NamedThing stomach disorder A disease involving the stomach. phenio_relaxed_subqs.owl MONDO:0004335 biolink:NamedThing digestive system disorder A disease or disorder that involves the digestive system. phenio_relaxed_subqs.owl MONDO:0004382 biolink:NamedThing laryngeal disorder A non-neoplastic or neoplastic disorder that affects the larynx. Representative examples include laryngitis, vocal cord polyp, squamous papilloma, and carcinoma. phenio_relaxed_subqs.owl MONDO:0004466 biolink:NamedThing neuronitis phenio_relaxed_subqs.owl MONDO:0004496 biolink:NamedThing myocarditis Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus, Wegener's granulomatosis, giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and rarely, a heart transplant may be needed if the heart muscle becomes weak. phenio_relaxed_subqs.owl MONDO:0004522 biolink:NamedThing peritonitis Inflammation of the peritoneum due to infection by bacteria or fungi. Causes include liver disease, perforation of the gastrointestinal tract or biliary tract, and peritoneal dialysis. Patients usually present with abdominal pain and tenderness, fever, chills, and nausea and vomiting. It is an emergency medical condition that requires prompt medical attention and treatment. phenio_relaxed_subqs.owl MONDO:0004551 biolink:NamedThing Meckel diverticulitis Inflammation of a congenital diverticulum of the lower intestine. phenio_relaxed_subqs.owl MONDO:0004625 biolink:NamedThing phlebitis Inflammation of a vein. phenio_relaxed_subqs.owl MONDO:0004627 biolink:NamedThing duodenitis Acute or chronic inflammation of the duodenum. Causes include bacterial and viral infections and gastroesophageal reflux disease. Symptoms include vomiting and abdominal pain. phenio_relaxed_subqs.owl MONDO:0004634 biolink:NamedThing vein disorder A disease involving the vein. phenio_relaxed_subqs.owl MONDO:0004738 biolink:NamedThing histidine metabolism disease A disease that has its basis in the disruption of histidine metabolic process. phenio_relaxed_subqs.owl MONDO:0004748 biolink:NamedThing lip disorder A disease involving the lip. phenio_relaxed_subqs.owl MONDO:0004767 biolink:NamedThing vesiculitis An inflammatory disease involving a pathogenic inflammatory response in the seminal vesicle. phenio_relaxed_subqs.owl MONDO:0004768 biolink:NamedThing keratoconjunctivitis Inflammation of both the cornea and the conjunctiva. phenio_relaxed_subqs.owl MONDO:0004773 biolink:NamedThing iridocyclitis An inflammation of the iris and the ciliary body phenio_relaxed_subqs.owl MONDO:0004785 biolink:NamedThing blepharitis Inflammation of the eyelids near the eyelashes. phenio_relaxed_subqs.owl MONDO:0004790 biolink:NamedThing fatty liver disease A reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis. phenio_relaxed_subqs.owl MONDO:0004804 biolink:NamedThing dacryoadenitis Inflammation and enlargement of the lacrimal gland. phenio_relaxed_subqs.owl MONDO:0004805 biolink:NamedThing leukocyte disorder A disease involving leukocytes. phenio_relaxed_subqs.owl MONDO:0004821 biolink:NamedThing nasopharyngeal disorder A non-neoplastic or neoplastic disorder that affects the nasopharynx. Representative examples include nasopharyngitis, angiofibroma, and carcinoma. phenio_relaxed_subqs.owl MONDO:0004842 biolink:NamedThing stomatitis Inflammation of the oral mucosa due to local or systemic factors. phenio_relaxed_subqs.owl MONDO:0004855 biolink:NamedThing tenosynovitis Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced. phenio_relaxed_subqs.owl MONDO:0004857 biolink:NamedThing tendinitis Inflammation of a tendon, usually resulting from an overuse injury. It is characterized by swelling of the tendon, tenderness around the inflamed tendon, and pain while moving the affected area of the body. phenio_relaxed_subqs.owl MONDO:0004860 biolink:NamedThing vitreous disorder A disease involving the vitreous humor. phenio_relaxed_subqs.owl MONDO:0004866 biolink:NamedThing eustachian tube disorder A disease involving the pharyngotympanic tube. phenio_relaxed_subqs.owl MONDO:0004867 biolink:NamedThing upper respiratory tract disorder A disease involving the upper respiratory tract. phenio_relaxed_subqs.owl MONDO:0004868 biolink:NamedThing biliary tract disorder A disease involving the biliary tree. phenio_relaxed_subqs.owl MONDO:0004880 biolink:NamedThing bowel dysfunction Any disease in which the causes of the disease is a perturbation of the lower digestive tract leading to its dysfunction. phenio_relaxed_subqs.owl MONDO:0004905 biolink:NamedThing intestinal disaccharidase deficiency Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age. phenio_relaxed_subqs.owl MONDO:0004923 biolink:NamedThing chronic inflammation of lacrimal passage phenio_relaxed_subqs.owl MONDO:0004926 biolink:NamedThing dacryocystitis Inflammation of the lacrimal sac. phenio_relaxed_subqs.owl MONDO:0004928 biolink:NamedThing lymph node disorder Any disorder of the lymph nodes. phenio_relaxed_subqs.owl MONDO:0004966 biolink:NamedThing gastritis Inflammation of the stomach. phenio_relaxed_subqs.owl MONDO:0004982 biolink:NamedThing pancreatitis Inflammation of the pancreas. phenio_relaxed_subqs.owl MONDO:0004995 biolink:NamedThing cardiovascular disorder A disease involving the cardiovascular system. phenio_relaxed_subqs.owl MONDO:0005010 biolink:NamedThing coronary artery disorder Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC) phenio_relaxed_subqs.owl MONDO:0005020 biolink:NamedThing intestinal disorder A non-neoplastic or neoplastic disorder that affects the small or large intestine. phenio_relaxed_subqs.owl MONDO:0005025 biolink:NamedThing endocarditis Inflammation of the endocardium. phenio_relaxed_subqs.owl MONDO:0005039 biolink:NamedThing reproductive system disorder A disease involving the reproductive system. phenio_relaxed_subqs.owl MONDO:0005042 biolink:NamedThing head disorder A disease involving the head. phenio_relaxed_subqs.owl MONDO:0005046 biolink:NamedThing immune system disorder A disorder resulting from an abnormality in the immune system. phenio_relaxed_subqs.owl MONDO:0005066 biolink:NamedThing metabolic disease A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process. phenio_relaxed_subqs.owl MONDO:0005071 biolink:NamedThing nervous system disorder A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves. phenio_relaxed_subqs.owl MONDO:0005076 biolink:NamedThing periodontitis An acute or chronic inflammatory process that affects the tissues that surround and support the teeth. phenio_relaxed_subqs.owl MONDO:0005084 biolink:NamedThing mental disorder A disease that has its basis in the disruption of mental process. phenio_relaxed_subqs.owl MONDO:0005087 biolink:NamedThing respiratory system disorder A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma. phenio_relaxed_subqs.owl MONDO:0005093 biolink:NamedThing skin disorder Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs. phenio_relaxed_subqs.owl MONDO:0005137 biolink:NamedThing nutritional disorder Any condition related to a disturbance between proper intake and utilization of nourishment. phenio_relaxed_subqs.owl MONDO:0005151 biolink:NamedThing endocrine system disorder A disease involving the endocrine system. phenio_relaxed_subqs.owl MONDO:0005154 biolink:NamedThing liver disorder A disease involving the liver. phenio_relaxed_subqs.owl MONDO:0005156 biolink:NamedThing encephalomyelitis Inflammation of the brain and the spinal cord. phenio_relaxed_subqs.owl MONDO:0005172 biolink:NamedThing skeletal system disorder A disease involving the skeletal system. phenio_relaxed_subqs.owl MONDO:0005218 biolink:NamedThing muscular disorder Acquired, familial, and congenital disorders of skeletal muscle and smooth muscle. phenio_relaxed_subqs.owl MONDO:0005240 biolink:NamedThing kidney disorder A disease involving the kidney. phenio_relaxed_subqs.owl MONDO:0005250 biolink:NamedThing placental villitis Inflammatory process that involves the chorionic villi (villitis) of the placenta. phenio_relaxed_subqs.owl MONDO:0005267 biolink:NamedThing heart disorder A disease involving the heart and/or pericardium. phenio_relaxed_subqs.owl MONDO:0005269 biolink:NamedThing carotid artery disorder A disease involving the carotid artery segment. phenio_relaxed_subqs.owl MONDO:0005271 biolink:NamedThing allergic disease An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures. phenio_relaxed_subqs.owl MONDO:0005275 biolink:NamedThing lung disorder A disease involving the lung. phenio_relaxed_subqs.owl MONDO:0005280 biolink:NamedThing prostatitis An infectious or non-infectious inflammatory process affecting the prostate gland. phenio_relaxed_subqs.owl MONDO:0005281 biolink:NamedThing gallbladder disorder A disease involving the gall bladder. phenio_relaxed_subqs.owl MONDO:0005292 biolink:NamedThing colitis Inflammation of the colon. phenio_relaxed_subqs.owl MONDO:0005297 biolink:NamedThing urethritis Inflammation of the urethra. phenio_relaxed_subqs.owl MONDO:0005308 biolink:NamedThing ciliopathy A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function. phenio_relaxed_subqs.owl MONDO:0005328 biolink:NamedThing eye disorder A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma. phenio_relaxed_subqs.owl MONDO:0005362 biolink:NamedThing erectile dysfunction Persistent or recurrent inability to achieve or to maintain an erection during sexual activity. phenio_relaxed_subqs.owl MONDO:0005381 biolink:NamedThing bone disorder Diseases of bones. phenio_relaxed_subqs.owl MONDO:0005385 biolink:NamedThing vascular disorder A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome. phenio_relaxed_subqs.owl MONDO:0005395 biolink:NamedThing movement disorder Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement. phenio_relaxed_subqs.owl MONDO:0005429 biolink:NamedThing prion disease A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal. phenio_relaxed_subqs.owl MONDO:0005441 biolink:NamedThing otitis media Inflammation of the anatomical structures of the middle ear, which is most often caused by an infectious process. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. phenio_relaxed_subqs.owl MONDO:0005449 biolink:NamedThing conduction system disorder A disease involving the conducting system of heart. phenio_relaxed_subqs.owl MONDO:0005476 biolink:NamedThing atrioventricular node disorder A disease involving the atrioventricular node. phenio_relaxed_subqs.owl MONDO:0005495 biolink:NamedThing adrenal gland disorder A disease involving the adrenal gland. phenio_relaxed_subqs.owl MONDO:0005497 biolink:NamedThing bone development disease A disease involving the bone development. phenio_relaxed_subqs.owl MONDO:0005533 biolink:NamedThing distal colitis Particular variety of ulcerative colitis where only the left half of the colon is inflamed. phenio_relaxed_subqs.owl MONDO:0005538 biolink:NamedThing proctitis An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease. phenio_relaxed_subqs.owl MONDO:0005550 biolink:NamedThing infectious disease A disorder directly resulting from the presence and activity of a microbial, viral, or parasitic agent. It can be transmitted by direct or indirect contact. phenio_relaxed_subqs.owl MONDO:0005552 biolink:NamedThing ocular vascular disorder A disorder that is caused by pathologic changes in the ocular vasculature. phenio_relaxed_subqs.owl MONDO:0005558 biolink:NamedThing ovarian disorder A disease involving the ovary. phenio_relaxed_subqs.owl MONDO:0005560 biolink:NamedThing brain disorder A disease affecting the brain or part of the brain. phenio_relaxed_subqs.owl MONDO:0005561 biolink:NamedThing aortic disorder Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC) phenio_relaxed_subqs.owl MONDO:0005570 biolink:NamedThing hematologic disorder A disease involving the hematopoietic system. phenio_relaxed_subqs.owl MONDO:0005578 biolink:NamedThing arthritic joint disease An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain. phenio_relaxed_subqs.owl MONDO:0005649 biolink:NamedThing appendicitis Acute inflammation of the vermiform appendix. phenio_relaxed_subqs.owl MONDO:0005728 biolink:NamedThing diaphragm disorder A disease involving the diaphragm. phenio_relaxed_subqs.owl MONDO:0005753 biolink:NamedThing epiglottitis Inflammation of the epiglottis. phenio_relaxed_subqs.owl MONDO:0005832 biolink:NamedThing lymphangitis Inflammation of the lymphatic vessels. phenio_relaxed_subqs.owl MONDO:0005833 biolink:NamedThing lymphatic system disorder A disease involving the lymphatic part of lymphoid system. phenio_relaxed_subqs.owl MONDO:0005842 biolink:NamedThing maxillary sinusitis An acute or chronic inflammatory process affecting the mucous membrane of the maxillary sinus. phenio_relaxed_subqs.owl MONDO:0005845 biolink:NamedThing meningoencephalitis Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan. phenio_relaxed_subqs.owl MONDO:0005885 biolink:NamedThing optic neuritis Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain.The conditionmay cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, drug toxicity and deficiency of vitamin B-12. Vision often returns to normal within 2-3 weeks without treatment. In some cases, corticosteroids are given to speed recovery. If known, the underlying cause should be treated. phenio_relaxed_subqs.owl MONDO:0005899 biolink:NamedThing parotid disorder A disease involving the parotid gland. phenio_relaxed_subqs.owl MONDO:0005900 biolink:NamedThing parotitis Inflammation of the parotid glands. phenio_relaxed_subqs.owl MONDO:0005904 biolink:NamedThing pericarditis An inflammatory process affecting the pericardium. phenio_relaxed_subqs.owl MONDO:0005917 biolink:NamedThing placenta disorder A disease involving the placenta. phenio_relaxed_subqs.owl MONDO:0005961 biolink:NamedThing sinusitis An acute or chronic inflammatory process affecting the mucous membranes of any sinus cavity. phenio_relaxed_subqs.owl MONDO:0006025 biolink:NamedThing autosomal recessive disease Autosomal recessive form of disease. phenio_relaxed_subqs.owl MONDO:0006026 biolink:NamedThing urinary bladder disorder A disease involving the urinary bladder. phenio_relaxed_subqs.owl MONDO:0006032 biolink:NamedThing cystitis Inflammation of the urinary bladder. phenio_relaxed_subqs.owl MONDO:0006170 biolink:NamedThing conjunctival disorder Any disorder of the conjunctiva. phenio_relaxed_subqs.owl MONDO:0006510 biolink:NamedThing renal tubular transport disease Genetic defects in the selective or non-selective transport functions of the kidney tubules. phenio_relaxed_subqs.owl MONDO:0006573 biolink:NamedThing lipodystrophy A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body. phenio_relaxed_subqs.owl MONDO:0006607 biolink:NamedThing sebaceous gland disorder A disease involving the sebaceous gland. phenio_relaxed_subqs.owl MONDO:0006615 biolink:NamedThing sweat gland disorder A disease involving the sweat gland. phenio_relaxed_subqs.owl MONDO:0006656 biolink:NamedThing aortitis Inflammation of the aorta. Causes include trauma, infectious disorders, and connective tissue disorders. phenio_relaxed_subqs.owl MONDO:0006672 biolink:NamedThing balanitis An infectious or non-infectious inflammatory process that affects the glans penis. Symptoms include redness and pain of the glans penis and foreskin and discharge. phenio_relaxed_subqs.owl MONDO:0006771 biolink:NamedThing glossitis Inflammation of the tongue. phenio_relaxed_subqs.owl MONDO:0006814 biolink:NamedThing iritis Inflammation of the iris. phenio_relaxed_subqs.owl MONDO:0006816 biolink:NamedThing arthropathy Any disorder of the joints. phenio_relaxed_subqs.owl MONDO:0006849 biolink:NamedThing mastitis Inflammation of breast tissue during lactation or postpartum due to an obstructed duct or infection. Mastitis can also occur in non-breastfeeding women, and rarely in men. phenio_relaxed_subqs.owl MONDO:0006858 biolink:NamedThing mouth disorder A disease involving the mouth. phenio_relaxed_subqs.owl MONDO:0006877 biolink:NamedThing oophoritis Inflammation of the ovary, generally caused by an ascending infection of organisms from the endocervix. phenio_relaxed_subqs.owl MONDO:0006879 biolink:NamedThing optic papillitis Swelling of the optic disk, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause optic atrophy and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175) phenio_relaxed_subqs.owl MONDO:0006882 biolink:NamedThing orchitis Inflammation of one or both testes due to viral or bacterial infections. Signs and symptoms include enlargement or tenderness of the affected testis, inguinal lymphadenopathy, blood in the semen, and pain during urination, intercourse, or ejaculation. phenio_relaxed_subqs.owl MONDO:0006887 biolink:NamedThing parametritis Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the broad ligament. phenio_relaxed_subqs.owl MONDO:0006900 biolink:NamedThing perinephritis Inflammation of the connective and adipose tissues surrounding the kidney. phenio_relaxed_subqs.owl MONDO:0006918 biolink:NamedThing posterior uveitis Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis. phenio_relaxed_subqs.owl MONDO:0006938 biolink:NamedThing pyelitis Inflammation of the renal pelvis. phenio_relaxed_subqs.owl MONDO:0006950 biolink:NamedThing retinal vasculitis Inflammation of the retinal vasculature with various causes including infectious disease; lupus erythematosus, systemic; multiple sclerosis; behcet syndrome; and chorioretinitis. phenio_relaxed_subqs.owl MONDO:0006999 biolink:NamedThing tooth disorder A disease involving the calcareous tooth. phenio_relaxed_subqs.owl MONDO:0007002 biolink:NamedThing trochlear nerve disorder A disease involving the trochlear nerve. phenio_relaxed_subqs.owl MONDO:0007004 biolink:NamedThing type III hypersensitivity disease Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa. phenio_relaxed_subqs.owl MONDO:0007018 biolink:NamedThing vulvitis Inflammation of the vulva. It is characterized by pruritus and painful urination. phenio_relaxed_subqs.owl MONDO:0007019 biolink:NamedThing vulvovaginitis An inflammatory pathologic process that affects the vulva and the vagina. phenio_relaxed_subqs.owl MONDO:0007179 biolink:NamedThing autoimmune disease A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis). phenio_relaxed_subqs.owl MONDO:0008538 biolink:NamedThing temporal arteritis Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries. phenio_relaxed_subqs.owl MONDO:0008638 biolink:NamedThing varicose disease A vascular disease characterized by the presence of enlarged and tortuous veins. phenio_relaxed_subqs.owl MONDO:0008891 biolink:NamedThing riboflavin transporter deficiency A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy. phenio_relaxed_subqs.owl MONDO:0009862 biolink:NamedThing dihydropteridine reductase deficiency Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties. phenio_relaxed_subqs.owl MONDO:0011122 biolink:NamedThing obesity disorder A disorder involving an excessive amount of body fat. phenio_relaxed_subqs.owl MONDO:0011610 biolink:NamedThing dimethylglycine dehydrogenase deficiency An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. This is an n-of-1 use case where only one patient or family has been described with this disorder. phenio_relaxed_subqs.owl MONDO:0011644 biolink:NamedThing pars planitis An inflammatory disorder of the cilliary body in the uvea that affects healthy, younger individuals who are often asymptomatic. It has a long clinical course with relapses and remissions. Symptoms include mildly decreased vision and floaters. It may be associated with autoimmune disorders. phenio_relaxed_subqs.owl MONDO:0012996 biolink:NamedThing AGAT deficiency L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy. phenio_relaxed_subqs.owl MONDO:0012999 biolink:NamedThing guanidinoacetate methyltransferase deficiency Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations. phenio_relaxed_subqs.owl MONDO:0014471 biolink:NamedThing mitochondrial proton-transporting ATP synthase complex deficiency A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS). phenio_relaxed_subqs.owl MONDO:0015141 biolink:NamedThing disorder of medulla oblongata A disease that involves the medulla oblongata. phenio_relaxed_subqs.owl MONDO:0015144 biolink:NamedThing brain inflammatory disease An inflammatory disease involving a pathogenic inflammatory response in the brain. phenio_relaxed_subqs.owl MONDO:0015292 biolink:NamedThing endotheliitis An inflammatory disease involving a pathogenic inflammatory response in the endothelium. phenio_relaxed_subqs.owl MONDO:0015448 biolink:NamedThing mitochondrial complex III deficiency Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms). phenio_relaxed_subqs.owl MONDO:0015508 biolink:NamedThing genetic parenchymatous liver disease phenio_relaxed_subqs.owl MONDO:0015962 biolink:NamedThing inherited renal tubular disease phenio_relaxed_subqs.owl MONDO:0015978 biolink:NamedThing functional neutrophil defect phenio_relaxed_subqs.owl MONDO:0016140 biolink:NamedThing sarcoglycanopathy Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency. phenio_relaxed_subqs.owl MONDO:0016141 biolink:NamedThing qualitative or quantitative defects of alpha-sarcoglycan phenio_relaxed_subqs.owl MONDO:0016142 biolink:NamedThing qualitative or quantitative defects of beta-sarcoglycan phenio_relaxed_subqs.owl MONDO:0016143 biolink:NamedThing qualitative or quantitative defects of gamma-sarcoglycan phenio_relaxed_subqs.owl MONDO:0016144 biolink:NamedThing qualitative or quantitative defects of delta-sarcoglycan phenio_relaxed_subqs.owl MONDO:0016145 biolink:NamedThing qualitative or quantitative defects of dysferlin phenio_relaxed_subqs.owl MONDO:0016147 biolink:NamedThing qualitative or quantitative defects of dystrophin phenio_relaxed_subqs.owl MONDO:0016149 biolink:NamedThing qualitative or quantitative defects of merosin phenio_relaxed_subqs.owl MONDO:0016150 biolink:NamedThing qualitative or quantitative defects of integrin alpha-7 phenio_relaxed_subqs.owl MONDO:0016151 biolink:NamedThing qualitative or quantitative defects of perlecan phenio_relaxed_subqs.owl MONDO:0016153 biolink:NamedThing qualitative or quantitative defects of TRIM32 phenio_relaxed_subqs.owl MONDO:0016154 biolink:NamedThing qualitative or quantitative defects of myotubularin phenio_relaxed_subqs.owl MONDO:0016157 biolink:NamedThing qualitative or quantitative defects of fukutin phenio_relaxed_subqs.owl MONDO:0016187 biolink:NamedThing qualitative or quantitative defects of desmin phenio_relaxed_subqs.owl MONDO:0016191 biolink:NamedThing qualitative or quantitative defects of titin phenio_relaxed_subqs.owl MONDO:0016192 biolink:NamedThing qualitative or quantitative defects of telethonin phenio_relaxed_subqs.owl MONDO:0016196 biolink:NamedThing qualitative or quantitative defects of emerin phenio_relaxed_subqs.owl MONDO:0017059 biolink:NamedThing neural tube closure defect A disease that has its basis in the disruption of neural tube closure. phenio_relaxed_subqs.owl MONDO:0017740 biolink:NamedThing disorder of protein N-glycosylation A disease that has its basis in the disruption of protein N-linked glycosylation. phenio_relaxed_subqs.owl MONDO:0017741 biolink:NamedThing disorder of protein O-glycosylation A disease that has its basis in the disruption of protein O-linked glycosylation. phenio_relaxed_subqs.owl MONDO:0017779 biolink:NamedThing alpha-N-acetylgalactosaminidase deficiency Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity. phenio_relaxed_subqs.owl MONDO:0017879 biolink:NamedThing hantavirus pulmonary syndrome An infection caused by Hantaviruses. It manifests with flu-like symptoms but it rapidly progresses to life-threatening respiratory problems. phenio_relaxed_subqs.owl MONDO:0018274 biolink:NamedThing GM3 synthase deficiency GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications. phenio_relaxed_subqs.owl MONDO:0018882 biolink:NamedThing vasculitis Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. BehC'et disease) to relatively minor skin disease. phenio_relaxed_subqs.owl MONDO:0019289 biolink:NamedThing hyperpigmentation of the skin phenio_relaxed_subqs.owl MONDO:0019290 biolink:NamedThing hypopigmentation of the skin A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections. phenio_relaxed_subqs.owl MONDO:0019293 biolink:NamedThing skin vascular disease A disease that involves the superficial vasculature. phenio_relaxed_subqs.owl MONDO:0019296 biolink:NamedThing subcutaneous tissue disorder A disease involving the superficial fascia. phenio_relaxed_subqs.owl MONDO:0019512 biolink:NamedThing congenital heart malformation A disease that has its basis in the disruption of heart development. phenio_relaxed_subqs.owl MONDO:0019722 biolink:NamedThing glomerular disorder A disease involving the renal glomerulus. phenio_relaxed_subqs.owl MONDO:0019723 biolink:NamedThing disease of glomerular basement membrane phenio_relaxed_subqs.owl MONDO:0019755 biolink:NamedThing developmental defect during embryogenesis A disease that has its basis in the disruption of embryonic morphogenesis. phenio_relaxed_subqs.owl MONDO:0019838 biolink:NamedThing adenohypophysitis An autoimmune disease of the pituitary gland which can present with varying degrees of pituitary hormonal impairment and/or with symptoms related to pituitary enlargement. It predominantly affects young women in pregnancy or the peripartum period. phenio_relaxed_subqs.owl MONDO:0019956 biolink:NamedThing encephalitis An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes. phenio_relaxed_subqs.owl MONDO:0020120 biolink:NamedThing skeletal muscle disorder A disease involving the skeletal muscle tissue. phenio_relaxed_subqs.owl MONDO:0020124 biolink:NamedThing neuromuscular junction disease Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions. phenio_relaxed_subqs.owl MONDO:0020128 biolink:NamedThing motor neuron disorder A disease involving the motor neuron. phenio_relaxed_subqs.owl MONDO:0020238 biolink:NamedThing inherited vitreous-retinal disease phenio_relaxed_subqs.owl MONDO:0020283 biolink:NamedThing uveitis An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision. phenio_relaxed_subqs.owl MONDO:0020285 biolink:NamedThing transposition of the great arteries and conotruncal cardiac anomaly phenio_relaxed_subqs.owl MONDO:0020286 biolink:NamedThing aortic malformation phenio_relaxed_subqs.owl MONDO:0020288 biolink:NamedThing atrioventricular valve anomaly phenio_relaxed_subqs.owl MONDO:0020289 biolink:NamedThing congenital tricuspid malformation phenio_relaxed_subqs.owl MONDO:0020579 biolink:NamedThing mucositis Inflammation of the mucous membranes. phenio_relaxed_subqs.owl MONDO:0020591 biolink:NamedThing disorder of peritoneum A non-neoplastic or neoplastic disorder that affects the peritoneal cavity. Representative examples of non-neoplastic disorders include peritonitis and panniculitis. Representative examples of neoplastic disorders include adenomatoid tumor, primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma. phenio_relaxed_subqs.owl MONDO:0020592 biolink:NamedThing disorder of pharynx A non-neoplastic or neoplastic disorder that affects the pharynx. Representative examples include pharyngitis and carcinoma. phenio_relaxed_subqs.owl MONDO:0020594 biolink:NamedThing abducens nerve disorder A non-neoplastic or neoplastic disorder affecting the abducens nerve (sixth cranial nerve). phenio_relaxed_subqs.owl MONDO:0020595 biolink:NamedThing disorder of retroperitoneum A disease or disorder that involves the retroperitoneal space. phenio_relaxed_subqs.owl MONDO:0020598 biolink:NamedThing malabsorption syndrome A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea. phenio_relaxed_subqs.owl MONDO:0020604 biolink:NamedThing X-linked dominant disease X-linked dominant form of disease. phenio_relaxed_subqs.owl MONDO:0020605 biolink:NamedThing X-linked recessive disease X-linked recessive form of disease. phenio_relaxed_subqs.owl MONDO:0020606 biolink:NamedThing sex-linked disease phenio_relaxed_subqs.owl MONDO:0020683 biolink:NamedThing acute disease Disease having a short and relatively severe course. phenio_relaxed_subqs.owl MONDO:0020779 biolink:NamedThing cartilage development disorder Any dysfunction in the growth of cartilage. phenio_relaxed_subqs.owl MONDO:0020830 biolink:NamedThing diaphragmitis phenio_relaxed_subqs.owl MONDO:0021016 biolink:NamedThing channelopathy A disease caused by disturbed function of ion channel subunits or the proteins that regulate them. phenio_relaxed_subqs.owl MONDO:0021017 biolink:NamedThing synaptopathy A disease caused by dysfunction of synapses. phenio_relaxed_subqs.owl MONDO:0021060 biolink:NamedThing RASopathy Developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. phenio_relaxed_subqs.owl MONDO:0021084 biolink:NamedThing vision disorder Any impairment to the vision. phenio_relaxed_subqs.owl MONDO:0021106 biolink:NamedThing laminopathy A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina. phenio_relaxed_subqs.owl MONDO:0021108 biolink:NamedThing meningitis A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord. phenio_relaxed_subqs.owl MONDO:0021145 biolink:NamedThing disorder of genitourinary system A disease that involves the genitourinary system. phenio_relaxed_subqs.owl MONDO:0021147 biolink:NamedThing disorder of development or morphogenesis Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development. phenio_relaxed_subqs.owl MONDO:0021154 biolink:NamedThing dermis disorder A disease that involves the dermis. phenio_relaxed_subqs.owl MONDO:0021156 biolink:NamedThing hypophysitis Inflammation of the pituitary gland. phenio_relaxed_subqs.owl MONDO:0021164 biolink:NamedThing posthitis An inflammatory disease involving a pathogenic inflammatory response in the prepuce of penis. phenio_relaxed_subqs.owl MONDO:0021166 biolink:NamedThing inflammatory disease A disease involving a pathogenic inflammatory response in the anatomical structure. phenio_relaxed_subqs.owl MONDO:0021167 biolink:NamedThing myositis An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue. phenio_relaxed_subqs.owl MONDO:0021178 biolink:NamedThing injury Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity. phenio_relaxed_subqs.owl MONDO:0021189 biolink:NamedThing intestinal motility disease A disease that has its basis in the disruption of intestinal motility. phenio_relaxed_subqs.owl MONDO:0021190 biolink:NamedThing DNA repair disease A disease that has its basis in the disruption of DNA repair. phenio_relaxed_subqs.owl MONDO:0021205 biolink:NamedThing disorder of ear A disease that involves the ear. phenio_relaxed_subqs.owl MONDO:0021260 biolink:NamedThing sensory ganglionopathy A disease or disorder that involves the sensory ganglion. phenio_relaxed_subqs.owl MONDO:0021562 biolink:NamedThing omphalitis Inflammation of the umbilical cord stump in newborns. phenio_relaxed_subqs.owl MONDO:0021568 biolink:NamedThing renal tubule disorder A disease that involves the renal tubule. phenio_relaxed_subqs.owl MONDO:0021635 biolink:NamedThing neurocristopathy That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage. phenio_relaxed_subqs.owl MONDO:0021669 biolink:NamedThing post-infectious disorder A disorder that follows infection but is distinct from the infection itself and its usual manifestations. phenio_relaxed_subqs.owl MONDO:0021673 biolink:NamedThing post-bacterial disorder phenio_relaxed_subqs.owl MONDO:0021674 biolink:NamedThing post-viral disorder A post-infectious disorder that follows viral infection but is distinct from the viral infection itself and its usual manifestations. phenio_relaxed_subqs.owl MONDO:0021736 biolink:NamedThing proctosigmoiditis Inflammation of the sigmoid colon and rectum. phenio_relaxed_subqs.owl MONDO:0021746 biolink:NamedThing pyelocystitis phenio_relaxed_subqs.owl MONDO:0021765 biolink:NamedThing radiculitis An inflammatory process affecting a nerve root. Patients experience pain radiating along a nerve path because of spinal pressure on the nerve root that connects to the nerve path. phenio_relaxed_subqs.owl MONDO:0021925 biolink:NamedThing tracheobronchitis Inflammation of the tracheobronchial tree. phenio_relaxed_subqs.owl MONDO:0021945 biolink:NamedThing hearing disorder A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear. phenio_relaxed_subqs.owl MONDO:0021960 biolink:NamedThing ureteritis An acute or chronic inflammatory process affecting the ureter. phenio_relaxed_subqs.owl MONDO:0022293 biolink:NamedThing vascular disorder of penis A non-neoplastic or neoplastic disorder that affects the blood vessels of the penis. Representative examples include atherosclerosis, venous leak, and hemangioma. phenio_relaxed_subqs.owl MONDO:0022606 biolink:NamedThing branchial arch disease A disease that involves the pharyngeal system development. phenio_relaxed_subqs.owl MONDO:0022800 biolink:NamedThing type 2 collagenopathy Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene. phenio_relaxed_subqs.owl MONDO:0022919 biolink:NamedThing cytokine receptor deficiency A disease that has its basis in the disruption of cytokine receptor activity. phenio_relaxed_subqs.owl MONDO:0022953 biolink:NamedThing delta-1-pyrroline-5-carboxylate dehydrogenase deficiency A disease that has its basis in the disruption of 1-pyrroline-5-carboxylate dehydrogenase activity. phenio_relaxed_subqs.owl MONDO:0023369 biolink:NamedThing disorder of facial skeleton A disease that involves the facial skeleton. phenio_relaxed_subqs.owl MONDO:0023554 biolink:NamedThing acquired testicular failure Testicular failure, the cause of which is not present at birth. phenio_relaxed_subqs.owl MONDO:0024239 biolink:NamedThing congenital anomaly of cardiovascular system A disease that has its basis in the disruption of cardiovascular system development. phenio_relaxed_subqs.owl MONDO:0024278 biolink:NamedThing proctocolitis Inflammation of the rectum and colon. phenio_relaxed_subqs.owl MONDO:0024321 biolink:NamedThing disorder of GPI anchor biosynthesis A disease that has its basis in the disruption of GPI anchor biosynthetic process. phenio_relaxed_subqs.owl MONDO:0024322 biolink:NamedThing disorder of glycosylation A disease that has its basis in the disruption of glycosylation. phenio_relaxed_subqs.owl MONDO:0024417 biolink:NamedThing perceptual disorders Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body. phenio_relaxed_subqs.owl MONDO:0024419 biolink:NamedThing enthesitis Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone. phenio_relaxed_subqs.owl MONDO:0024422 biolink:NamedThing auditory perceptual disorders Acquired or developmental cognitive disorders of AUDITORY PERCEPTION characterized by a reduced ability to perceive information contained in auditory stimuli despite intact auditory pathways. Affected individuals have difficulty with speech perception, sound localization, and comprehending the meaning of inflections of speech. phenio_relaxed_subqs.owl MONDO:0024432 biolink:NamedThing nerve plexus disorder A disease that involves the nerve plexus. phenio_relaxed_subqs.owl MONDO:0024454 biolink:NamedThing sacral nerve plexus disorder A disease that involves the sacral nerve plexus. phenio_relaxed_subqs.owl MONDO:0024458 biolink:NamedThing disorder of visual system A disease that involves the visual system. phenio_relaxed_subqs.owl MONDO:0024467 biolink:NamedThing apocrine sweat gland disorder A disease that involves the apocrine sweat gland. phenio_relaxed_subqs.owl MONDO:0024468 biolink:NamedThing anterior pituitary gland disorder A disease that involves the adenohypophysis. phenio_relaxed_subqs.owl MONDO:0024481 biolink:NamedThing skin appendage disorder A disease that involves the cutaneous appendage. phenio_relaxed_subqs.owl MONDO:0024572 biolink:NamedThing immunodeficiency-related disorder A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation. phenio_relaxed_subqs.owl MONDO:0024616 biolink:NamedThing tympanitis An inflammatory disease involving a pathogenic inflammatory response in the tympanic membrane. phenio_relaxed_subqs.owl MONDO:0024623 biolink:NamedThing otorhinolaryngologic disease Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases. phenio_relaxed_subqs.owl MONDO:0024625 biolink:NamedThing disorder of lacrimal gland A disease that involves the lacrimal gland. phenio_relaxed_subqs.owl MONDO:0024626 biolink:NamedThing defective phagocytic cell engulfment phenio_relaxed_subqs.owl MONDO:0024627 biolink:NamedThing phagocytic cell dysfunction phenio_relaxed_subqs.owl MONDO:0024632 biolink:NamedThing defective phagocytic cell opsonization phenio_relaxed_subqs.owl MONDO:0024634 biolink:NamedThing large intestine disorder A disease that involves the large intestine. phenio_relaxed_subqs.owl MONDO:0024635 biolink:NamedThing small intestine disorder A disease that involves the small intestine. phenio_relaxed_subqs.owl MONDO:0024636 biolink:NamedThing inflammation of heart layer An inflammatory disease involving a pathogenic inflammatory response in the heart layer. phenio_relaxed_subqs.owl MONDO:0024643 biolink:NamedThing myocardial disorder A disorder that affects the muscle tissue of the heart. Representative examples include myocardial infarction, myocarditis, and cardiomyopathy. phenio_relaxed_subqs.owl MONDO:0024654 biolink:NamedThing skull disorder A non-neoplastic or neoplastic disorder that affects structures of the skull. phenio_relaxed_subqs.owl MONDO:0024876 biolink:NamedThing tendon sheath disorder A disease that involves the tendon sheath. phenio_relaxed_subqs.owl MONDO:0025294 biolink:NamedThing tick-borne infectious disease Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic. phenio_relaxed_subqs.owl MONDO:0025512 biolink:NamedThing type II hypersensitivity reaction disease A disease that has its basis in the disruption of type II hypersensitivity. phenio_relaxed_subqs.owl MONDO:0029000 biolink:NamedThing poisoning A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent. phenio_relaxed_subqs.owl MONDO:0037792 biolink:NamedThing carbohydrate metabolism disease A disease that has its basis in the disruption of carbohydrate metabolic process. phenio_relaxed_subqs.owl MONDO:0037807 biolink:NamedThing glycerol metabolism disease A disease that has its basis in the disruption of glycerol metabolic process. phenio_relaxed_subqs.owl MONDO:0037821 biolink:NamedThing porphyrin metabolism disease A disease that has its basis in the disruption of porphyrin-containing compound metabolic process. phenio_relaxed_subqs.owl MONDO:0037829 biolink:NamedThing purine metabolism disease A disease that has its basis in the disruption of purine nucleobase metabolic process. phenio_relaxed_subqs.owl MONDO:0037847 biolink:NamedThing vertebral joint disorder A disease that involves the intervertebral joint. phenio_relaxed_subqs.owl MONDO:0037870 biolink:NamedThing valine metabolism disease A disease that has its basis in the disruption of valine metabolic process. phenio_relaxed_subqs.owl MONDO:0037871 biolink:NamedThing amino acid metabolism disease A disease that has its basis in the disruption of cellular amino acid metabolic process. phenio_relaxed_subqs.owl MONDO:0037937 biolink:NamedThing pyrimidine metabolism disease A disease that has its basis in the disruption of pyrimidine nucleobase metabolic process. phenio_relaxed_subqs.owl MONDO:0040674 biolink:NamedThing orgasm disorder phenio_relaxed_subqs.owl MONDO:0041154 biolink:NamedThing disorder of neck of urinary bladder phenio_relaxed_subqs.owl MONDO:0042451 biolink:NamedThing endomyometritis An inflammation of the endometrium and the myometrium. phenio_relaxed_subqs.owl MONDO:0042458 biolink:NamedThing Trichinella spiralis infectious disease An disease or disorder caused by infection with Trichinella spiralis. phenio_relaxed_subqs.owl MONDO:0042970 biolink:NamedThing disorder of glutamate decarboxylase A disease that has its basis in the disruption of glutamate decarboxylase activity. phenio_relaxed_subqs.owl MONDO:0043137 biolink:NamedThing isolated microcephaly phenio_relaxed_subqs.owl MONDO:0043459 biolink:NamedThing radiation-induced disorder A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas. phenio_relaxed_subqs.owl MONDO:0043494 biolink:NamedThing arteritis An inflammatory process affecting an artery. phenio_relaxed_subqs.owl MONDO:0043543 biolink:NamedThing iatrogenic disease Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment. phenio_relaxed_subqs.owl MONDO:0043576 biolink:NamedThing endarteritis Inflammation of the arterial intima. phenio_relaxed_subqs.owl MONDO:0043579 biolink:NamedThing enteritis Inflammation of the small intestine. phenio_relaxed_subqs.owl MONDO:0043707 biolink:NamedThing mediastinal disorder A non-neoplastic or neoplastic disorder that affects the structures of the mediastinum. Representative examples include mediastinitis, mediastinal lipoma, mediastinal schwannoma, thymoma, and mediastinal lymphoma. phenio_relaxed_subqs.owl MONDO:0043786 biolink:NamedThing serositis Inflammation of a serous membrane. phenio_relaxed_subqs.owl MONDO:0043862 biolink:NamedThing voice disorders A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis. phenio_relaxed_subqs.owl MONDO:0043905 biolink:NamedThing pneumonitis An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia. phenio_relaxed_subqs.owl MONDO:0044137 biolink:NamedThing vitreous body disorder Any disease affecting the vitreous body of the eye. phenio_relaxed_subqs.owl MONDO:0044209 biolink:NamedThing disorder of lectin complement activation pathway A disease that has its basis in the disruption of complement activation, lectin pathway. phenio_relaxed_subqs.owl MONDO:0044347 biolink:NamedThing erythrocyte disorder A disease or disorder that involves the erythrocyte. phenio_relaxed_subqs.owl MONDO:0044348 biolink:NamedThing hemoglobinopathy phenio_relaxed_subqs.owl MONDO:0044655 biolink:NamedThing c12orf65-related combined oxidative phosphorylation defect phenio_relaxed_subqs.owl MONDO:0044970 biolink:NamedThing mitochondrial disease phenio_relaxed_subqs.owl MONDO:0044972 biolink:NamedThing eosinophil disorder A disease or disorder that involves the eosinophil. phenio_relaxed_subqs.owl MONDO:0044984 biolink:NamedThing nasolacrimal duct disorder A disease or disorder that involves the nasolacrimal duct. phenio_relaxed_subqs.owl MONDO:0044986 biolink:NamedThing lymphoid system disorder A disease or disorder that involves the lymphoid system. phenio_relaxed_subqs.owl MONDO:0044987 biolink:NamedThing face disorder A disease or disorder that involves the face. phenio_relaxed_subqs.owl MONDO:0044989 biolink:NamedThing foot disorder A disease or disorder that involves the pes. phenio_relaxed_subqs.owl MONDO:0044990 biolink:NamedThing hand disorder A disease or disorder that involves the manus. phenio_relaxed_subqs.owl MONDO:0044991 biolink:NamedThing upper digestive tract disorder A disease or disorder that involves the upper digestive tract. phenio_relaxed_subqs.owl MONDO:0044992 biolink:NamedThing mouth mucosa disorder A disease or disorder that involves the mouth mucosa. phenio_relaxed_subqs.owl MONDO:0044993 biolink:NamedThing sympathetic nervous system disorder A disease or disorder that involves the sympathetic nervous system. phenio_relaxed_subqs.owl MONDO:0044995 biolink:NamedThing parasympathetic nervous system disorder A disease or disorder that involves the parasympathetic nervous system. phenio_relaxed_subqs.owl MONDO:0044996 biolink:NamedThing cerebral cortex disorder A disease or disorder that involves the cerebral cortex. phenio_relaxed_subqs.owl MONDO:0044997 biolink:NamedThing midbrain disorder A disease or disorder that involves the midbrain. phenio_relaxed_subqs.owl MONDO:0044998 biolink:NamedThing carpal region disorder A disease or disorder that involves the carpal region. phenio_relaxed_subqs.owl MONDO:0044999 biolink:NamedThing scalp disorder A disease or disorder that involves the scalp. phenio_relaxed_subqs.owl MONDO:0045001 biolink:NamedThing cardiac ventricle disorder A disease or disorder that involves the cardiac ventricle. phenio_relaxed_subqs.owl MONDO:0045002 biolink:NamedThing vertebral disorder A disease or disorder that involves the vertebra. phenio_relaxed_subqs.owl MONDO:0045003 biolink:NamedThing scrotal disorder A disease or disorder that involves the scrotum. phenio_relaxed_subqs.owl MONDO:0045004 biolink:NamedThing skeletal ligament disorder A disease or disorder that involves the skeletal ligament. phenio_relaxed_subqs.owl MONDO:0045008 biolink:NamedThing cholesterol metabolism disease A disease that has its basis in the disruption of cholesterol metabolic process. phenio_relaxed_subqs.owl MONDO:0045010 biolink:NamedThing glycoprotein metabolism disease A disease that has its basis in the disruption of glycoprotein metabolic process. phenio_relaxed_subqs.owl MONDO:0045011 biolink:NamedThing keratinization disease phenio_relaxed_subqs.owl MONDO:0045012 biolink:NamedThing steroid metabolism disease A disease that has its basis in the disruption of steroid metabolic process. phenio_relaxed_subqs.owl MONDO:0045013 biolink:NamedThing disorder of extraembryonic membrane A disease or disorder that involves the extraembryonic membrane. phenio_relaxed_subqs.owl MONDO:0045014 biolink:NamedThing tetrahydrobiopterin metabolic process disease A disease that has its basis in the disruption of tetrahydrobiopterin metabolic process. phenio_relaxed_subqs.owl MONDO:0045015 biolink:NamedThing carbohydrate transport disease A disease that has its basis in the disruption of carbohydrate transport. phenio_relaxed_subqs.owl MONDO:0045016 biolink:NamedThing cholesterol catabolic process disease A disease that has its basis in the disruption of cholesterol catabolic process. phenio_relaxed_subqs.owl MONDO:0045017 biolink:NamedThing cholesterol biosynthetic process disease A disease that has its basis in the disruption of cholesterol biosynthetic process. phenio_relaxed_subqs.owl MONDO:0045018 biolink:NamedThing creatine biosynthetic process disease A disease that has its basis in the disruption of creatine biosynthetic process. phenio_relaxed_subqs.owl MONDO:0045019 biolink:NamedThing lactation disease phenio_relaxed_subqs.owl MONDO:0045020 biolink:NamedThing glycine metabolism disease A disease that has its basis in the disruption of glycine metabolic process. phenio_relaxed_subqs.owl MONDO:0045022 biolink:NamedThing disorder of organic acid metabolism A disease that has its basis in the disruption of organic acid metabolic process. phenio_relaxed_subqs.owl MONDO:0045024 biolink:NamedThing cancer or benign tumor Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions. phenio_relaxed_subqs.owl MONDO:0045043 biolink:NamedThing disorder of uterine broad ligament A disease or disorder that involves the broad ligament of uterus. phenio_relaxed_subqs.owl MONDO:0045044 biolink:NamedThing ligament disorder A disease or disorder that involves the ligament. phenio_relaxed_subqs.owl MONDO:0056798 biolink:NamedThing disorder of appendix A disease or disorder that involves the vermiform appendix. phenio_relaxed_subqs.owl MONDO:0056799 biolink:NamedThing synovium disorder A disease or disorder that involves the layer of synovial tissue. phenio_relaxed_subqs.owl MONDO:0056802 biolink:NamedThing synovial bursa disorder A disease or disorder that involves the synovial bursa. phenio_relaxed_subqs.owl MONDO:0056803 biolink:NamedThing sulfur metabolism disease A disease that has its basis in the disruption of sulfur compound metabolic process. phenio_relaxed_subqs.owl MONDO:0100004 biolink:NamedThing mast cell activation syndrome A clinically defined disease states with a largely unknown morphological background. Acute mast cell activation (MCA) is commonly seen in allergic reactions and often leads to the clinical signs and symptoms of anaphylaxis. Severe or even life‐threatening MCA may occur when the burden of mast cells is high and/or these cells are in an hyperactivated state. Mastocytosis may be associated with mast cell activation syndrome (MCAS). phenio_relaxed_subqs.owl MONDO:0100070 biolink:NamedThing neuroendocrine disorder A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli. phenio_relaxed_subqs.owl MONDO:0100074 biolink:NamedThing norovirus infectious disease Infections caused by viruses of the genus in the family caliciviridae, which is associated with epidemic gastroenteritis in humans. phenio_relaxed_subqs.owl MONDO:0100081 biolink:NamedThing sleep disorder A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep. phenio_relaxed_subqs.owl MONDO:0100086 biolink:NamedThing perinatal disease A condition affecting an unborn or newly born individual, where the perinatal period is defined in humans as commencing at 22 completed weeks (154 days) of gestation and ending seven completed days after birth. Other, broader definitions of perinatal period cover five months before birth to one month after birth. phenio_relaxed_subqs.owl MONDO:0100133 biolink:NamedThing mitochondrial complex I deficiency A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene. phenio_relaxed_subqs.owl MONDO:0100320 biolink:NamedThing post-COVID-19 disorder A SARS-CoV-2-related disease that is caused by infection by SARS-CoV-2, and manifests after the original primary infection. phenio_relaxed_subqs.owl MONDO:0100336 biolink:NamedThing infectious disease or post-infectious disorder A disease or disorder that result from the presence and activity of a microbial, viral, fungal or parasitic agent, or a disorder that follows infection with an infectious agent but is distinct from the usual manifestations of the infection itself. phenio_relaxed_subqs.owl MONDO:0100337 biolink:NamedThing SEC61A1 deficiency Any Mendelian disease in which the cause of the disease is a mutation in the SEC61A1 gene. It is characterized by variable presentation of phenotypes in patients, including autosomal dominant tubulointerstitial kidney disease, primary antibody deficiency, and severe congenital neutropenia. phenio_relaxed_subqs.owl MONDO:0100366 biolink:NamedThing occupational disorder Any disorder that is realized in response to an exposure to occupation. phenio_relaxed_subqs.owl MONDO:0700003 biolink:NamedThing obstetric disorder Disorder associated with pregnancy, childbirth, and puerperium. phenio_relaxed_subqs.owl MONDO:0700007 biolink:NamedThing idiopathic disease A disease or disorder for which the cause is of uncertain or unknown. phenio_relaxed_subqs.owl NCIT:C2991 biolink:NamedThing phenio_relaxed_subqs.owl OGMS:0000031 biolink:NamedThing disease A disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. phenio_relaxed_subqs.owl OBO:SCTID_64572001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000408 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:377788 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0012714 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017762 biolink:NamedThing disorder of copper metabolism An acquired metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis. phenio_relaxed_subqs.owl UMLS:CN043585 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_275.1 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007368 biolink:NamedThing familial benign copper deficiency Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982. phenio_relaxed_subqs.owl MONDO:0010200 biolink:NamedThing Wilson disease Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body. phenio_relaxed_subqs.owl MONDO:0010572 biolink:NamedThing occipital horn syndrome Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect. phenio_relaxed_subqs.owl MONDO:0010651 biolink:NamedThing Menkes disease Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair. phenio_relaxed_subqs.owl MONDO:0012251 biolink:NamedThing MEDNIK syndrome MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia). phenio_relaxed_subqs.owl MONDO:0033850 biolink:NamedThing autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect phenio_relaxed_subqs.owl OBO:SCTID_79886009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309839 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0012715 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002279 biolink:NamedThing iron metabolism disease Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed) phenio_relaxed_subqs.owl DOID:2351 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E83.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_275.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D019189 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001436 biolink:NamedThing hemosiderosis Accumulation of iron in internal organs. phenio_relaxed_subqs.owl MONDO:0018307 biolink:NamedThing neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system. phenio_relaxed_subqs.owl OBO:SCTID_30913008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0012979 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004283 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0025086 biolink:NamedThing hip dysplasia, canine A hereditary disease of the hip joints in dogs. Signs of the disease may be evident any time after 4 weeks of age. phenio_relaxed_subqs.owl MONDO:0025397 biolink:NamedThing canine distemper A viral disease caused by canine distemper virus that affects a wide variety of animal families, including domestic and wild species of dogs, coyotes, foxes, pandas, wolves, ferrets, skunks, raccoons, and large cats, as well as pinnipeds, some primates, and a variety of other species. phenio_relaxed_subqs.owl MONDO:0025425 biolink:NamedThing hepatitis, infectious canine A contagious disease caused by canine adenovirus (adenoviruses, canine) infecting the liver, the eye, the kidney, and other organs in dogs, other canids, and bears. Symptoms include fever; edema; vomiting; and diarrhea. phenio_relaxed_subqs.owl UMLS:C0013076 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004313 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_15566009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007240 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0013080 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008608 biolink:NamedThing Down syndrome Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects. phenio_relaxed_subqs.owl DOID:14250 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010247 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_758.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004314 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0700126 biolink:NamedThing trisomy 21 A chromosomal disorder consisting of the presence of an extra chromosome 21. phenio_relaxed_subqs.owl MONDO:0700128 biolink:NamedThing translocation Down syndrome Down syndrome in which the extra (partial or total) copy of chromosome 21 is attached to another chromosome. phenio_relaxed_subqs.owl MONDO:0700130 biolink:NamedThing partial trisomy 21 A chromosomal disorder consisting of the partial duplication of chromosome 21. phenio_relaxed_subqs.owl NCIT:C2993 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:190685 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_41040004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0001064 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:870 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0013100 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016472 biolink:NamedThing dracunculiasis Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas). phenio_relaxed_subqs.owl DOID:14418 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006286 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B72 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_125.7 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004320 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84677 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_396334002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007241 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:231 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0013238 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006733 biolink:NamedThing dry eye syndrome A syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign body presence in the eye. phenio_relaxed_subqs.owl UMLS:C0022575 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10140 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12895 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_375.15 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007638 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015352 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000948 biolink:NamedThing xerophthalmia Dryness of the eye due to inadequate production of tears. Causes include vitamin A deficiency, Sjogren syndrome, rheumatoid arthritis, systemic lupus erythematosus, and scleroderma. phenio_relaxed_subqs.owl NCIT:C34553 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_302896008 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_46152009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000906 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0013240 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001752 biolink:NamedThing alveolar periostitis A condition sometimes occurring after tooth extraction, particularly after traumatic extraction, resulting in a dry appearance of the exposed bone in the socket, due to disintegration or loss of the blood clot. It is basically a focal osteomyelitis without suppuration and is accompanied by severe pain (alveolalgia) and foul odor. (Dorland, 28th ed) phenio_relaxed_subqs.owl DOID:13585 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_526.5 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004368 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_61804006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0013261 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007473 biolink:NamedThing Duane retraction syndrome Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia. phenio_relaxed_subqs.owl DOID:12557 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006288 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_378.71 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004370 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011444 biolink:NamedThing Duane retraction syndrome 2 Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene. phenio_relaxed_subqs.owl MONDO:0014880 biolink:NamedThing Duane retraction syndrome 3 with or without deafness Duane syndrome type 3 is a disorder of eye movement.The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms.In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion. phenio_relaxed_subqs.owl MONDO:0024265 biolink:NamedThing Duane syndrome type 1 Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome). Treatment is mainly supportive and may include glasses or contact lenses for vision correction, eye patches, or surgery. phenio_relaxed_subqs.owl NCIT:C84678 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_126800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_60318001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:233 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0013264 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010679 biolink:NamedThing Duchenne muscular dystrophy Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle. phenio_relaxed_subqs.owl DOID:11723 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006291 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020388 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C75482 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:310200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_76670001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98896 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0013288 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001979 biolink:NamedThing dumping syndrome A disorder of the gastrointestinal tract. It is typically caused by the rapid emptying of undigested food from the stomach to the small intestine following gastroesophageal surgery but may be seen secondary to diabetes or the use of certain medications. Clinical signs may be seen 30-60 minutes after eating (early dumping): cramping, nausea, vomiting and diarrhea or they may be seen 1-3 hours later as a result of hyperinsulinemic hypoglycemia (late dumping): sweating, dizziness, confusion and heart palpitations. Untreated, the clinical course progresses to malnutrition and weight loss. phenio_relaxed_subqs.owl DOID:14495 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004377 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C2994 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001307 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0013299 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006735 biolink:NamedThing duodenogastric reflux Retrograde flow of duodenal contents (bile acids; pancreatic juice) into the stomach. phenio_relaxed_subqs.owl DOID:4071 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004383 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000909 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0013338 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006909 biolink:NamedThing pituitary dwarfism Proportionately decreased bodily growth due to failure of the pituitary gland to produce an adequate supply of growth hormone. phenio_relaxed_subqs.owl OBO:ICD9_253.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004393 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011420 biolink:NamedThing short stature due to partial GHR deficiency Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone. phenio_relaxed_subqs.owl MONDO:0021745 biolink:NamedThing psychosocial short stature A growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress. phenio_relaxed_subqs.owl OBO:SCTID_367460001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001109 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0013364 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009131 biolink:NamedThing Riley-Day syndrome A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system. phenio_relaxed_subqs.owl DOID:11589 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007581 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004402 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84706 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:223900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_29159009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1764 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0013369 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001517 biolink:NamedThing dysentery Acute inflammation of the intestine associated with infectious diarrhea of various etiologies, generally acquired by eating contaminated food containing toxins, biological derived from bacteria or other microorganisms. Dysentery is characterized initially by watery feces then by bloody mucoid stools. It is often associated with abdominal pain; fever; and dehydration. phenio_relaxed_subqs.owl DOID:12384 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004403 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001955 biolink:NamedThing protozoal dysentery A dysentery that involves protozoan infection. phenio_relaxed_subqs.owl MONDO:0019345 biolink:NamedThing shigellosis Shigellosis is a bacterial infection leading to dysentery and is caused by Shigella, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: S. dysenteriae, S. flexneri, S. boydii and S. sonnei, all of which cause bacillary dysentery and are strictly limited to human hosts. phenio_relaxed_subqs.owl MONDO:0043555 biolink:NamedThing infantile diarrhea Diarrhea occurring in infants from newborn to 24-months old. phenio_relaxed_subqs.owl OBO:SCTID_111939009 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_19213003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001869 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0013374 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001342 biolink:NamedThing dysgammaglobulinemia An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins. phenio_relaxed_subqs.owl DOID:11702 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004406 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001341 biolink:NamedThing selective IgA deficiency disease A dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class A (IgA). It is the most common primary antibody deficiency. It may be inherited or the reversible sequela of infection or certain drugs. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Though affected persons may be asymptomatic, low levels of IgA will reduce the immune system's ability to combat infection where IgA is normally secreted, at mucosal surfaces. Selective IgA deficiency is seen in greater proportion among patients with autoimmune disorders. phenio_relaxed_subqs.owl MONDO:0003738 biolink:NamedThing selective IgE deficiency disease A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class E (IgE). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons appear asymptomatic but may show a predisposition to autoimmune and respiratory diseases. phenio_relaxed_subqs.owl MONDO:0018039 biolink:NamedThing selective IgM deficiency Selective IgM deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteria in the blood (bacteremia, also known as septicemia). Although SIgMD was first described in two children, the disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of immunoglobulin M (IgM), normal levels of other immunoglobulins, and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). The cause is still unclear. The diagnosis includes isolated deficiency ofIgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested that people with SIgMD have pneumococcal and meningococcal vaccines, people with SIgMD who have recurrent infections should have prophylactic antibiotics and immune globulin replacement. phenio_relaxed_subqs.owl MONDO:0045045 biolink:NamedThing selective IgG immunodeficiency A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of immunoglobulin class G (IgG). Deficiencies of IgG present variably according to subclass. IgG deficiencies are typically relative among subclasses and not absolute. Thus even with a given selective IgG subclass deficiency, total IgG levels may still fall within normal range. The clinical course and prognosis is dependent upon the severity of the deficiency and associated morbidity. phenio_relaxed_subqs.owl OBO:SCTID_123782009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0013447 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_388.9 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021233 biolink:NamedThing ear neoplasm A neoplasm (disease) that involves the ear. phenio_relaxed_subqs.owl MONDO:0021666 biolink:NamedThing ear infection A viral or bacterial infection that affects the external, middle, or inner ear. It may follow an upper respiratory infection. Signs and symptoms include pain, ear discharge, ear fullness, hearing loss, vertigo, nausea, and vomiting. phenio_relaxed_subqs.owl MONDO:0043303 biolink:NamedThing hyperacusis A disorder in which an individual has an abnormally low noise tolerance, and increased sensitivity to sounds. phenio_relaxed_subqs.owl NCIT:C26757 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_25906001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0013502 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005738 biolink:NamedThing echinococcosis A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock. phenio_relaxed_subqs.owl DOID:1496 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004443 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000288 biolink:NamedThing polycystic echinococcosis phenio_relaxed_subqs.owl MONDO:0017282 biolink:NamedThing alveolar echinococcosis Alveolar echinococcosis (AE) is a rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis. AE is characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice. phenio_relaxed_subqs.owl MONDO:0044346 biolink:NamedThing echinococcus granulosus infectious disease An disease or disorder caused by infection with Echinococcus granulosus. phenio_relaxed_subqs.owl NCIT:C84682 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_74942003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007245 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0013514 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005739 biolink:NamedThing echinostomiasis Infection by flukes of the genus Echinostoma. phenio_relaxed_subqs.owl DOID:1218 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004451 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000292 biolink:NamedThing philophthalmiasis A disease caused by infection with Philophthalmus. phenio_relaxed_subqs.owl OBO:SCTID_52918004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007246 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0013533 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005740 biolink:NamedThing Echovirus infectious disease Infectious disease processes, including meningitis, diarrhea, and respiratory disorders, caused by echoviruses. phenio_relaxed_subqs.owl OBO:MESH_D004457 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_271532008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007247 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0013537 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001754 biolink:NamedThing eclampsia A potentially life-threatening pregnancy-related disorder characterized by tonic-clonic seizures in association with hypertension after the twentieth week of gestation and up to six weeks postpartum and in the absence of other potential causes of seizures. phenio_relaxed_subqs.owl UMLS:C0156678 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13593 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006316 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_O15 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_642.64 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004461 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C87167 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_303063000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0013568 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001404 biolink:NamedThing ecthyma An ulcerative pyoderma usually caused by group A beta-hemolytic streptococcal infection at the site of minor trauma. (Dorland, 27th ed) phenio_relaxed_subqs.owl DOID:11907 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004473 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_85791004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000689 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0013570 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005717 biolink:NamedThing contagious pustular dermatitis An infectious dermatitis of sheep and goats, affecting primarily the muzzle and lips. It is caused by a poxvirus and may be transmitted to humans. phenio_relaxed_subqs.owl DOID:8771 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_051.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004474 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_74050005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007222 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0013575 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019287 biolink:NamedThing ectodermal dysplasia syndrome The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures. phenio_relaxed_subqs.owl DOID:2121 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006317 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_757.31 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004476 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007083 biolink:NamedThing autosomal dominant palmoplantar keratoderma and congenital alopecia Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. phenio_relaxed_subqs.owl MONDO:0007095 biolink:NamedThing ameloonychohypohidrotic syndrome phenio_relaxed_subqs.owl MONDO:0007124 biolink:NamedThing ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate. phenio_relaxed_subqs.owl MONDO:0007131 biolink:NamedThing anonychia with flexural pigmentation Anonychia with flexural pigmentation is characterised by anonychia and skin abnormalities (hyper- and hypopigmentation in axillae and groins, dry palmar and plantar skin leading to sore and cracked soles). It has been described in a mother and her two children. The mode of transmission is autosomal dominant. phenio_relaxed_subqs.owl MONDO:0007207 biolink:NamedThing Böök syndrome Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics. phenio_relaxed_subqs.owl MONDO:0007339 biolink:NamedThing blepharocheilodontic syndrome An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth. phenio_relaxed_subqs.owl MONDO:0007383 biolink:NamedThing Stern-Lubinsky-Durrie syndrome Stern-Lubinsky-Durrie syndrome is characterised by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait. phenio_relaxed_subqs.owl MONDO:0007445 biolink:NamedThing dermatopathia pigmentosa reticularis phenio_relaxed_subqs.owl MONDO:0007449 biolink:NamedThing dermo-odonto dysplasia Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterised by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely. phenio_relaxed_subqs.owl MONDO:0007508 biolink:NamedThing Rapp-Hodgkin syndrome A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate. phenio_relaxed_subqs.owl MONDO:0007510 biolink:NamedThing Clouston syndrome Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis. phenio_relaxed_subqs.owl MONDO:0007511 biolink:NamedThing ectodermal dysplasia, trichoodontoonychial type Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996. phenio_relaxed_subqs.owl MONDO:0007610 biolink:NamedThing gingival fibromatosis-hypertrichosis syndrome Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback. phenio_relaxed_subqs.owl MONDO:0007693 biolink:NamedThing hypertrichosis cubiti-short stature syndrome Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated. phenio_relaxed_subqs.owl MONDO:0007837 biolink:NamedThing Johnson neuroectodermal syndrome Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism. phenio_relaxed_subqs.owl MONDO:0007949 biolink:NamedThing Marshall syndrome Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis. phenio_relaxed_subqs.owl MONDO:0008059 biolink:NamedThing Naegeli-Franceschetti-Jadassohn syndrome Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth. phenio_relaxed_subqs.owl MONDO:0008111 biolink:NamedThing oculodentodigital dysplasia Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities. phenio_relaxed_subqs.owl MONDO:0008283 biolink:NamedThing Cronkhite-Canada syndrome Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation. phenio_relaxed_subqs.owl MONDO:0008404 biolink:NamedThing scalp-ear-nipple syndrome Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant. phenio_relaxed_subqs.owl MONDO:0008582 biolink:NamedThing tooth and nail syndrome Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia. phenio_relaxed_subqs.owl MONDO:0008592 biolink:NamedThing tricho-dento-osseous syndrome Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull. phenio_relaxed_subqs.owl MONDO:0008622 biolink:NamedThing tricho-retino-dento-digital syndrome Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients. phenio_relaxed_subqs.owl MONDO:0008673 biolink:NamedThing acrofacial dysostosis, Weyers type Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner. phenio_relaxed_subqs.owl MONDO:0008706 biolink:NamedThing Ackerman syndrome Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers. phenio_relaxed_subqs.owl MONDO:0008754 biolink:NamedThing alopecia - contractures - dwarfism - intellectual disability syndrome Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome. phenio_relaxed_subqs.owl MONDO:0008853 biolink:NamedThing Barber-Say syndrome Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia. phenio_relaxed_subqs.owl MONDO:0008884 biolink:NamedThing oculoosteocutaneous syndrome A syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive. phenio_relaxed_subqs.owl MONDO:0008894 biolink:NamedThing cataract-hypertrichosis-intellectual disability syndrome Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait. phenio_relaxed_subqs.owl MONDO:0008923 biolink:NamedThing autosomal recessive palmoplantar keratoderma and congenital alopecia Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. phenio_relaxed_subqs.owl MONDO:0008934 biolink:NamedThing cerebellar ataxia-ectodermal dysplasia syndrome Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy. phenio_relaxed_subqs.owl MONDO:0009032 biolink:NamedThing cranioectodermal dysplasia Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa). phenio_relaxed_subqs.owl MONDO:0009084 biolink:NamedThing conductive deafness-ptosis-skeletal anomalies syndrome Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978. phenio_relaxed_subqs.owl MONDO:0009095 biolink:NamedThing dermatoosteolysis, Kirghizian type Dermatoosteolysis, Kirghizian type, is characterised by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive. phenio_relaxed_subqs.owl MONDO:0009124 biolink:NamedThing Dubowitz syndrome Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities. phenio_relaxed_subqs.owl MONDO:0009146 biolink:NamedThing ectodermal dysplasia-sensorineural deafness syndrome Ectodermal dysplasia-sensorineural deafness syndrome is characterised by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive. phenio_relaxed_subqs.owl MONDO:0009149 biolink:NamedThing ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998. phenio_relaxed_subqs.owl MONDO:0009150 biolink:NamedThing hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterised by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive. phenio_relaxed_subqs.owl MONDO:0009151 biolink:NamedThing cleft lip/palate-ectodermal dysplasia syndrome An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. phenio_relaxed_subqs.owl MONDO:0009155 biolink:NamedThing EEM syndrome EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1). phenio_relaxed_subqs.owl MONDO:0009162 biolink:NamedThing Ellis-van Creveld syndrome Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects. phenio_relaxed_subqs.owl MONDO:0009185 biolink:NamedThing amelocerebrohypohidrotic syndrome Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. phenio_relaxed_subqs.owl MONDO:0009263 biolink:NamedThing gapo syndrome GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations phenio_relaxed_subqs.owl MONDO:0009444 biolink:NamedThing ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. phenio_relaxed_subqs.owl MONDO:0009479 biolink:NamedThing Johanson-Blizzard syndrome A multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability. phenio_relaxed_subqs.owl MONDO:0009490 biolink:NamedThing Papillon-Lefevre disease Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis. phenio_relaxed_subqs.owl MONDO:0009522 biolink:NamedThing Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961. phenio_relaxed_subqs.owl MONDO:0009533 biolink:NamedThing Dahlberg-Borer-Newcomer syndrome Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities. phenio_relaxed_subqs.owl MONDO:0009595 biolink:NamedThing cartilage-hair hypoplasia Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth. phenio_relaxed_subqs.owl MONDO:0009771 biolink:NamedThing oculotrichodysplasia Oculotrichodysplasia is characterised by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive. phenio_relaxed_subqs.owl MONDO:0009873 biolink:NamedThing pilodental dysplasia-refractive errors syndrome Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985. phenio_relaxed_subqs.owl MONDO:0009901 biolink:NamedThing Bartsocas-Papas syndrome Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported. phenio_relaxed_subqs.owl MONDO:0010001 biolink:NamedThing ectodermal dysplasia-blindness syndrome Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait. phenio_relaxed_subqs.owl MONDO:0010010 biolink:NamedThing Schinzel-Giedion syndrome Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies. phenio_relaxed_subqs.owl MONDO:0010101 biolink:NamedThing Teebi-Shaltout syndrome Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features. phenio_relaxed_subqs.owl MONDO:0010102 biolink:NamedThing taurodontia-absent teeth-sparse hair syndrome This syndrome is characterised by congenital absence of the teeth, and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families. phenio_relaxed_subqs.owl MONDO:0010152 biolink:NamedThing trichomegaly-retina pigmentary degeneration-dwarfism syndrome Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability. phenio_relaxed_subqs.owl MONDO:0010153 biolink:NamedThing trichoodontoonychial dysplasia Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983. phenio_relaxed_subqs.owl MONDO:0010221 biolink:NamedThing CHIME syndrome CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. phenio_relaxed_subqs.owl MONDO:0010295 biolink:NamedThing anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. phenio_relaxed_subqs.owl MONDO:0010302 biolink:NamedThing Ito hypomelanosis Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines. phenio_relaxed_subqs.owl MONDO:0010531 biolink:NamedThing contractures-ectodermal dysplasia-cleft lip/palate syndrome Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. phenio_relaxed_subqs.owl MONDO:0010592 biolink:NamedThing focal dermal hypoplasia Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems. phenio_relaxed_subqs.owl MONDO:0010631 biolink:NamedThing incontinentia pigmenti Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS). phenio_relaxed_subqs.owl MONDO:0010702 biolink:NamedThing orofaciodigital syndrome I Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females. phenio_relaxed_subqs.owl MONDO:0010854 biolink:NamedThing Toriello-Lacassie-Droste syndrome Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital. phenio_relaxed_subqs.owl MONDO:0011041 biolink:NamedThing ectodermal dysplasia with natal teeth, Turnpenny type Ectodermal dysplasia with natal teeth, Turnpenny type is characterised by hypo- or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients were born with multiple teeth. Hair anomalies (sparse body and scalp hair) were also reported. Inheritance is autosomal dominant. phenio_relaxed_subqs.owl MONDO:0011063 biolink:NamedThing hidrotic ectodermal dysplasia, Christianson-Fourie type Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia. phenio_relaxed_subqs.owl MONDO:0011083 biolink:NamedThing trichodental syndrome Trichodental syndrome is characterised by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant. phenio_relaxed_subqs.owl MONDO:0011107 biolink:NamedThing congenital hypotrichosis with juvenile macular dystrophy A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. phenio_relaxed_subqs.owl MONDO:0011131 biolink:NamedThing tricho-oculo-dermo-vertebral syndrome phenio_relaxed_subqs.owl MONDO:0011171 biolink:NamedThing odonto-tricho-ungual-digito-palmar syndrome Odonto-tricho-ungual-digito-palmar syndrome is characterised by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait. phenio_relaxed_subqs.owl MONDO:0011219 biolink:NamedThing Fried's tooth and nail syndrome phenio_relaxed_subqs.owl MONDO:0011472 biolink:NamedThing epidermolysis bullosa simplex due to plakophilin deficiency Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering. phenio_relaxed_subqs.owl MONDO:0011581 biolink:NamedThing arrhythmogenic cardiomyopathy with woolly hair and keratoderma A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including woolly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features. phenio_relaxed_subqs.owl MONDO:0011883 biolink:NamedThing Curly hair - acral keratoderma - caries syndrome Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age. phenio_relaxed_subqs.owl MONDO:0011884 biolink:NamedThing hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed. phenio_relaxed_subqs.owl MONDO:0012008 biolink:NamedThing Lelis syndrome Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans. phenio_relaxed_subqs.owl MONDO:0012853 biolink:NamedThing Fontaine progeroid syndrome A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated. phenio_relaxed_subqs.owl MONDO:0013311 biolink:NamedThing ectodermal dysplasia-syndactyly syndrome Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet. phenio_relaxed_subqs.owl MONDO:0013973 biolink:NamedThing ectodermal dysplasia 5, hair/nail type phenio_relaxed_subqs.owl MONDO:0014460 biolink:NamedThing nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed. phenio_relaxed_subqs.owl MONDO:0015024 biolink:NamedThing ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene. phenio_relaxed_subqs.owl MONDO:0015280 biolink:NamedThing cardiofaciocutaneous syndrome Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability. phenio_relaxed_subqs.owl MONDO:0015428 biolink:NamedThing choroidal atrophy-alopecia syndrome Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails. phenio_relaxed_subqs.owl MONDO:0015780 biolink:NamedThing dyskeratosis congenita Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer. phenio_relaxed_subqs.owl MONDO:0015883 biolink:NamedThing hidrotic ectodermal dysplasia, Halal type Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, cafC)-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner. phenio_relaxed_subqs.owl MONDO:0016381 biolink:NamedThing hypertrichosis lanuginosa congenita Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes. phenio_relaxed_subqs.owl MONDO:0016535 biolink:NamedThing hypohidrotic ectodermal dysplasia A genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency). phenio_relaxed_subqs.owl MONDO:0017134 biolink:NamedThing odonto-onycho dysplasia-alopecia syndrome Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, cafe-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985. phenio_relaxed_subqs.owl MONDO:0017321 biolink:NamedThing pili torti-onychodysplasia syndrome Pili torti-onychodysplasia is a form of ectodermal dysplasia characterised by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive. phenio_relaxed_subqs.owl MONDO:0017869 biolink:NamedThing chondroectodermal dysplasia with night blindness Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates. phenio_relaxed_subqs.owl MONDO:0017922 biolink:NamedThing deafness-onychodystrophy syndrome Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies. phenio_relaxed_subqs.owl MONDO:0017951 biolink:NamedThing trichorhinophalangeal syndrome phenio_relaxed_subqs.owl MONDO:0018053 biolink:NamedThing trichothiodystrophy Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins). phenio_relaxed_subqs.owl MONDO:0018061 biolink:NamedThing trichodermodysplasia-dental alterations syndrome Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafC)-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986. phenio_relaxed_subqs.owl MONDO:0018062 biolink:NamedThing autosomal dominant trichoodontoonychodysplasia-syndactyly phenio_relaxed_subqs.owl MONDO:0018363 biolink:NamedThing focal facial dermal dysplasia Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies. phenio_relaxed_subqs.owl MONDO:0018657 biolink:NamedThing pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome phenio_relaxed_subqs.owl MONDO:0018781 biolink:NamedThing KID syndrome Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss. phenio_relaxed_subqs.owl MONDO:0019071 biolink:NamedThing pure hair and nail ectodermal dysplasia Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant. phenio_relaxed_subqs.owl MONDO:0019205 biolink:NamedThing trichodysplasia-amelogenesis imperfecta syndrome The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked. phenio_relaxed_subqs.owl MONDO:0019206 biolink:NamedThing sparse hair-short stature-skin anomalies syndrome Sparse hair-short stature-skin anomalies syndrome combines short stature, sparse hair, skin hyperpigmentation and urticaria-like reactions on the hands and arms. An upper central incisor, hypoplastic thumbs and/or palmoplantar hyperkeratosis may also be present. It is thought to be a rare form of ectodermal dysplasia and has been described at least once in a mother and her three sons. Transmission is autosomal dominant, or X-linked. phenio_relaxed_subqs.owl MONDO:0020197 biolink:NamedThing EEC syndrome and related syndrome phenio_relaxed_subqs.owl MONDO:0020475 biolink:NamedThing dermotrichic syndrome phenio_relaxed_subqs.owl MONDO:0022432 biolink:NamedThing alves Castelo dos Santos syndrome phenio_relaxed_subqs.owl MONDO:0022611 biolink:NamedThing Brunoni syndrome phenio_relaxed_subqs.owl MONDO:0023040 biolink:NamedThing ectodermal dysplasia Bartalos type phenio_relaxed_subqs.owl MONDO:0023041 biolink:NamedThing ectodermal dysplasia Berlin type phenio_relaxed_subqs.owl MONDO:0023042 biolink:NamedThing ectodermal dysplasia margarita type phenio_relaxed_subqs.owl MONDO:0023043 biolink:NamedThing ectodermal dysplasia alopecia preaxial polydactyly phenio_relaxed_subqs.owl MONDO:0023045 biolink:NamedThing ectodermal dysplasia arthrogryposis diabetes mellitus phenio_relaxed_subqs.owl MONDO:0023046 biolink:NamedThing ectodermal dysplasia blindness phenio_relaxed_subqs.owl MONDO:0023048 biolink:NamedThing ectodermal dysplasia neurosensory deafness phenio_relaxed_subqs.owl MONDO:0032584 biolink:NamedThing ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis phenio_relaxed_subqs.owl MONDO:0032804 biolink:NamedThing ectodermal dysplasia 15, hypohidrotic/hair type phenio_relaxed_subqs.owl MONDO:0035124 biolink:NamedThing linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies phenio_relaxed_subqs.owl MONDO:0043110 biolink:NamedThing jones hersh yusk syndrome phenio_relaxed_subqs.owl MONDO:0044305 biolink:NamedThing ectodermal dysplasia 13, hair/tooth type phenio_relaxed_subqs.owl MONDO:0044406 biolink:NamedThing arthrogryposis-ectodermal dysplasia-other anomalies syndrome phenio_relaxed_subqs.owl MONDO:0100358 biolink:NamedThing ectodermal dysplasia WNT10A related phenio_relaxed_subqs.owl NCIT:C84683 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_305100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_8654005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79373 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0013578 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002875 biolink:NamedThing parasitic ectoparasitic infectious disease Infestations by parasites which live on, or burrow into, the surface of their host's epidermis. Most ectoparasites are arthropods. phenio_relaxed_subqs.owl DOID:4110 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B85-B89 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004478 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003472 biolink:NamedThing lice infestation A contagious infestation of parasitic insects found on the head (Pediculus humanus capitis), body (Pediculus humanus corporis), or pubic area (Pthirus pubis) that typically cause itching and rash. phenio_relaxed_subqs.owl MONDO:0004389 biolink:NamedThing mite infestation Infestations with arthropods of the subclass acari, superorder Acariformes. phenio_relaxed_subqs.owl MONDO:0005980 biolink:NamedThing tick infestation Infestations with soft-bodied (Argasidae) or hard-bodied (Ixodidae) ticks. phenio_relaxed_subqs.owl MONDO:0019147 biolink:NamedThing myiasis The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes. phenio_relaxed_subqs.owl MONDO:0019498 biolink:NamedThing tungiasis An disease or disorder caused by infection with Tunga penetrans. phenio_relaxed_subqs.owl MONDO:0024303 biolink:NamedThing external hirudiniasis The attachment of leeches to the skin. After the leeches drop off, bleeding may continue as a result of the action of hirudin. Bites may become infected or ulcerate. phenio_relaxed_subqs.owl UMLS:C0013591 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004482 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007325 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0013605 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0025061 biolink:NamedThing edema disease of swine An acute disease of young pigs that is usually associated with weaning. It is characterized clinically by paresis and subcutaneous edema. phenio_relaxed_subqs.owl OBO:MESH_D004488 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0013720 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020066 biolink:NamedThing Ehlers-Danlos syndrome The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. phenio_relaxed_subqs.owl DOID:13359 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006322 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_Q79.6 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_756.83 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004535 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007522 biolink:NamedThing Ehlers-Danlos syndrome, classic type Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility. phenio_relaxed_subqs.owl MONDO:0007523 biolink:NamedThing Ehlers-Danlos syndrome, hypermobility type Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations. phenio_relaxed_subqs.owl MONDO:0007525 biolink:NamedThing Ehlers-Danlos syndrome, arthrochalasis type Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. phenio_relaxed_subqs.owl MONDO:0007526 biolink:NamedThing Ehlers-Danlos syndrome, spondylodysplastic type A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars. phenio_relaxed_subqs.owl MONDO:0007527 biolink:NamedThing Ehlers-Danlos syndrome, periodontitis type Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. phenio_relaxed_subqs.owl MONDO:0007528 biolink:NamedThing Ehlers-Danlos syndrome, autosomal dominant, type unspecified phenio_relaxed_subqs.owl MONDO:0007842 biolink:NamedThing Ehlers-Danlos syndrome type 11 Ehlers-Danlos syndrome, type 11, is characterised by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance. phenio_relaxed_subqs.owl MONDO:0009158 biolink:NamedThing Ehlers-Danlos syndrome, fibronectinemic type Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive. phenio_relaxed_subqs.owl MONDO:0009159 biolink:NamedThing Ehlers-Danlos syndrome, cardiac valvular type Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency. phenio_relaxed_subqs.owl MONDO:0009161 biolink:NamedThing Ehlers-Danlos syndrome, dermatosparaxis type A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility. phenio_relaxed_subqs.owl MONDO:0009242 biolink:NamedThing brittle cornea syndrome Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility. phenio_relaxed_subqs.owl MONDO:0010586 biolink:NamedThing X-linked Ehlers-Danlos syndrome Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterised by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive. phenio_relaxed_subqs.owl MONDO:0011142 biolink:NamedThing Ehlers-Danlos syndrome, musculocontractural type Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations. phenio_relaxed_subqs.owl MONDO:0011670 biolink:NamedThing Ehlers-Danlos syndrome due to tenascin-X deficiency phenio_relaxed_subqs.owl MONDO:0012114 biolink:NamedThing Ehlers-Danlos syndrome, Beasley-Cohen type phenio_relaxed_subqs.owl MONDO:0016290 biolink:NamedThing Hernández-Aguirre Negrete syndrome A syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. This condition is likely to be transmitted as an autosomal recessive trait. phenio_relaxed_subqs.owl MONDO:0016469 biolink:NamedThing Ehlers-Danlos syndrome, vascular-like type Ehlers-Danlos, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries. phenio_relaxed_subqs.owl MONDO:0016470 biolink:NamedThing Ehlers-Danlos/osteogenesis imperfecta syndrome Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. phenio_relaxed_subqs.owl MONDO:0017314 biolink:NamedThing Ehlers-Danlos syndrome, vascular type Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS. phenio_relaxed_subqs.owl MONDO:0019567 biolink:NamedThing Ehlers-Danlos syndrome, classic type, 1 Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene. phenio_relaxed_subqs.owl MONDO:0019568 biolink:NamedThing Ehlers-Danlos syndrome, classic type, 2 Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A2 gene. phenio_relaxed_subqs.owl MONDO:0034021 biolink:NamedThing spondylodysplastic Ehlers-Danlos syndrome phenio_relaxed_subqs.owl MONDO:0034022 biolink:NamedThing Bethlem myopathy 2 phenio_relaxed_subqs.owl MONDO:0034024 biolink:NamedThing kyphoscoliotic Ehlers-Danlos syndrome A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype. phenio_relaxed_subqs.owl MONDO:0040501 biolink:NamedThing ehlers-danlos syndrome, arthrochalasia type, 2 phenio_relaxed_subqs.owl MONDO:0054813 biolink:NamedThing Ehlers-Danlos syndrome, classic-like, 2 phenio_relaxed_subqs.owl NCIT:C34568 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_130000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_398114001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98249 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0013743 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019944 biolink:NamedThing Eisenmenger syndrome Eisenmenger syndrome (ES) is an form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH. phenio_relaxed_subqs.owl OBO:GARD_0006323 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004541 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84390 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_445928005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:97214 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0013903 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN239258 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12714 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001301 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_756.55 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004613 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0023513 biolink:NamedThing Jeune syndrome situs inversus phenio_relaxed_subqs.owl NCIT:C84684 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:225500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_62501005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:289 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0014008 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006740 biolink:NamedThing empty sella syndrome Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person. phenio_relaxed_subqs.owl DOID:3642 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006331 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004652 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84686 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237722004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000914 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0014014 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005999 biolink:NamedThing tuberculous empyema An empyema resulting from infection by Mycobacterium tuberculosis. phenio_relaxed_subqs.owl DOID:14305 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004654 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34575 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_14527007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007528 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0014040 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019384 biolink:NamedThing encephalitis lethargica A form of encephalitis, the etiology of which is uncertain, that is characterized by lethargy and headache. phenio_relaxed_subqs.owl DOID:5225 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006332 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C26761 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34576 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_186499007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:83600 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0014053 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019378 biolink:NamedThing la Crosse encephalitis La Crosse encephalitis (CE) is an acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits. phenio_relaxed_subqs.owl UMLS:C0276379 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050118 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010925 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004670 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_61094002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:83483 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0014057 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019209 biolink:NamedThing Japanese encephalitis A disease due to a virus transmitted by an arthropod). phenio_relaxed_subqs.owl DOID:10844 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006797 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_062.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004672 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34577 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_52947006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007332 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79139 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0014060 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005969 biolink:NamedThing st. Louis encephalitis A viral encephalitis caused by the St. Louis encephalitis virus (encephalitis virus, st. louis), a flavivirus. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus culex. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an aseptic meningitis or encephalitis. Clinical manifestations of the encephalitic presentation may include seizures, lethargy, myoclonus, focal neurologic signs, coma, and death. (From Adams et al., Principles of Neurology, 6th ed, p750) phenio_relaxed_subqs.owl DOID:10845 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A83.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_062.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004674 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_417607009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007495 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:83484 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0014061 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017572 biolink:NamedThing tick-borne encephalitis Tick-borne encephalitis is caused by an arbovirus of the Flaviviridae family (tick-borne encephalitis virus, TBEV), transmitted principally by the bite of the Ixodes ricinus tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis. phenio_relaxed_subqs.owl DOID:0050175 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005216 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004675 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34579 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001309 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:297 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0014077 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011716 biolink:NamedThing acute hemorrhagic leukoencephalitis Acute hemorrhagic leukoencephalitis(AHL) is a veryrareform of acute disseminated encephalomyelitis that usuallyresults indeath. It is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages the myelin -- the protective covering of the nerve fibers. It may also cause bleeding in the brain, leading to damage of the white matter. Symptoms usually come on quickly, beginning with symptoms such as fever, neck stiffness, fatigue, headache, nausea vomiting,seizures, and coma.AHL has a very poor prognosis, with rapid deterioration and death usually occurring within days to one week after onset of symptoms because of severe inflammation in the brain. Although the exact cause is unclear,AHL usually followsaviral infection, or less often, vaccination for measles, mumps, or rubella. Some researchers think that an infection or vaccination can initiate an autoimmune process in the body thus leading to AHL. phenio_relaxed_subqs.owl DOID:10992 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008629 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004684 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84535 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606752 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_72986009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007132 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0014078 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006005 biolink:NamedThing Venezuelan equine encephalitis A condition caused by infection by the Venezuelan equine encephalitis virus, which is characterized by headache, fever, myalgia, nausea, and vomiting. phenio_relaxed_subqs.owl DOID:9584 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006355 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A92.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_066.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004685 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35121 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_417067005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007534 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0014084 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008145 biolink:NamedThing Ollier disease A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones. phenio_relaxed_subqs.owl UMLS:C0206641 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203308 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4624 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007251 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3008 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:166000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_268274005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:296 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0014130 biolink:NamedThing phenio_relaxed_subqs.owl DOID:28 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_259.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004700 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000212 biolink:NamedThing hypercalcemia, infantile A hypercalcemia disease that occurs between 28 days to one year of life.. phenio_relaxed_subqs.owl MONDO:0000569 biolink:NamedThing autoimmune disorder of endocrine system A hypersensitivity reaction type II disease that involves the endocrine system. phenio_relaxed_subqs.owl MONDO:0002082 biolink:NamedThing endocrine gland neoplasm A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma. phenio_relaxed_subqs.owl MONDO:0005803 biolink:NamedThing hyperinsulinemic hypoglycemia An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11. phenio_relaxed_subqs.owl MONDO:0006322 biolink:NamedThing non-neoplastic bile duct disorder A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia. phenio_relaxed_subqs.owl MONDO:0006743 biolink:NamedThing endocrine tuberculosis Infection of the endocrine glands with species of mycobacterium, most often mycobacterium tuberculosis. phenio_relaxed_subqs.owl MONDO:0008487 biolink:NamedThing polycystic ovary syndrome A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity. phenio_relaxed_subqs.owl MONDO:0008915 biolink:NamedThing dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH). phenio_relaxed_subqs.owl MONDO:0009416 biolink:NamedThing hypoinsulinemic hypoglycemia and body hemihypertrophy phenio_relaxed_subqs.owl MONDO:0014148 biolink:NamedThing estrogen resistance syndrome Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present. phenio_relaxed_subqs.owl MONDO:0015126 biolink:NamedThing polyendocrinopathy phenio_relaxed_subqs.owl MONDO:0015127 biolink:NamedThing pituitary deficiency phenio_relaxed_subqs.owl MONDO:0015514 biolink:NamedThing genetic endocrine growth disease phenio_relaxed_subqs.owl MONDO:0015663 biolink:NamedThing diencephalic syndrome Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesias and euphoria, in the presence of hypothalamic tumors. phenio_relaxed_subqs.owl MONDO:0017322 biolink:NamedThing disorders of vitamin D metabolism phenio_relaxed_subqs.owl MONDO:0017581 biolink:NamedThing familial infantile gigantism phenio_relaxed_subqs.owl MONDO:0017808 biolink:NamedThing duplication of the pituitary gland phenio_relaxed_subqs.owl MONDO:0018124 biolink:NamedThing Oncogenic osteomalacia Oncogenic osteomalacia is characterized by the development of a tumor that causes the bones to be weakened. This occurs when a tumor secretes a substance called fibroblast growth factor 23 (FGF23). FGF23 inhibits the ability of the kidneys to absorb phosphate. Phosphate is important for keeping bones strong and healthy. Therefore, this disease is characterized by a softening and weakening of the bones (osteomalacia). The disease also results in multiple biochemical abnormalities including high levels of phosphate in the urine (hyperphosphaturia) and low levels of phosphate in the blood (hypophosphatemia). The majority of tumors that cause oncogenic osteomalacia are small and slow-growing. These tumors most commonly occur in the skin, muscles, or bones of the extremities or in the paranasal sinuses around the head. Most of these tumors are benign, meaning they are not associated with cancer. The exact reason that the tumors associated with oncogenic osteomalacia develop is not known. The disease is diagnosed when a person experiences clinical features such as bone weakening and hyperphosphaturia and a tumor is found by imaging of the body. Treatment of the disease consists of surgical removal of the tumor. The symptoms of the disease, including the weakening of the bones, typically resolve once the tumor is removed. phenio_relaxed_subqs.owl MONDO:0018458 biolink:NamedThing familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration. phenio_relaxed_subqs.owl MONDO:0018620 biolink:NamedThing hypothalamic adipsic hypernatraemia syndrome phenio_relaxed_subqs.owl MONDO:0019155 biolink:NamedThing Leydig cell hypoplasia A condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up (46, XY), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person. phenio_relaxed_subqs.owl MONDO:0019182 biolink:NamedThing inherited obesity phenio_relaxed_subqs.owl NCIT:C3009 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_362969004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0001379 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0014238 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024315 biolink:NamedThing parasitic endophthalmitis Infection of the epicondyles by a parasite. phenio_relaxed_subqs.owl OBO:ICD9_360.13 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34587 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_57100005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0014342 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0025404 biolink:NamedThing coronaviral enteritis of turkeys An acute, highly contagious virus disease of turkeys characterized by chilling, anorexia, decreased water intake, diarrhea, dehydration and weight loss. The infectious agent is a coronavirus. phenio_relaxed_subqs.owl OBO:MESH_D004753 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0014356 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009172 biolink:NamedThing enterocolitis An inflammatory process affecting the small intestine and colon. Causes include viruses, bacteria, radiation, and antibiotics use. phenio_relaxed_subqs.owl OBO:MESH_D004760 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005313 biolink:NamedThing necrotizing enterocolitis Necrotizing enterocolitis (NEC) is a devastating disease that affects mostly the intestine of premature infants. The wall of the intestine is invaded by bacteria, which cause local infection and inflammation that can ultimately destroy the wall of the bowel (intestine). Such bowel wall destruction can lead to perforation of the intestine and spillage of stool into the infant's abdomen, which can result in an overwhelming infection and death. phenio_relaxed_subqs.owl MONDO:0100008 biolink:NamedThing food protein-induced enterocolitis syndrome An eosinophilic gastrointestinal disorder triggered by food that is non-IgE-mediated. phenio_relaxed_subqs.owl NCIT:C79573 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:226150 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_43752006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001481 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0014371 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004767 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_370514003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000922 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0014378 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005747 biolink:NamedThing enterovirus infectious disease An disease caused by infection with Enterovirus. phenio_relaxed_subqs.owl OBO:MESH_D004769 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017375 biolink:NamedThing congenital enterovirus infection Congenital viral infections with enteroviruses (EV) including coxsackie viruses and ECHO viruses is an infectious embryofetopathy that have been reported to cause spontaneous abortion, stillbirth, fetal malformations and acute systemic illness in the newborn. phenio_relaxed_subqs.owl MONDO:0023071 biolink:NamedThing enterovirus antenatal infection phenio_relaxed_subqs.owl MONDO:0023143 biolink:NamedThing fetal enterovirus syndrome phenio_relaxed_subqs.owl MONDO:0024618 biolink:NamedThing poliovirus infection An disease or disorder caused by infection with Enterovirus C. phenio_relaxed_subqs.owl MONDO:0025062 biolink:NamedThing encephalomyelitis, enzootic porcine A picornavirus infection producing symptoms similar to poliomyelitis in pigs. phenio_relaxed_subqs.owl MONDO:0025130 biolink:NamedThing swine vesicular disease An enterovirus infection of swine clinically indistinguishable from foot-and-mouth disease, vesicular stomatitis, and vesicular exanthema of swine. It is caused by a strain of human enterovirus B. phenio_relaxed_subqs.owl OBO:SCTID_53648006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007255 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0014481 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004810 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007258 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0014521 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0025066 biolink:NamedThing epidermitis, exudative, of swine An acute generalized dermatitis of pigs which occurs from 5 to 35 days of age, characterized by sudden onset, with morbidity of 10 to 90% and mortality of 5 to 90%. The lesions are caused by Staphylococcus hyos but the bacterial agent is unable to penetrate the intact skin. Abrasions on the feet and legs or lacerations on the body frequently precede infection. In acute cases, a vesicular-type virus may be the predisposing factor. The causative organism is inhibited by most antibiotics. (Merck Veterinary Manual, 5th ed) phenio_relaxed_subqs.owl OBO:MESH_D004818 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0014522 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009176 biolink:NamedThing epidermodysplasia verruciformis Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer. phenio_relaxed_subqs.owl DOID:13777 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006357 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004819 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010587 biolink:NamedThing epidermodysplasia verruciformis, X-linked X-linked form of epidermodysplasia verruciformis. phenio_relaxed_subqs.owl MONDO:0032614 biolink:NamedThing epidermodysplasia verruciformis, susceptibility to, 2 phenio_relaxed_subqs.owl MONDO:0032644 biolink:NamedThing epidermodysplasia verruciformis, susceptibility to, 3 phenio_relaxed_subqs.owl MONDO:0032666 biolink:NamedThing epidermodysplasia verruciformis, susceptibility to, 4 phenio_relaxed_subqs.owl MONDO:0032667 biolink:NamedThing epidermodysplasia verruciformis, susceptibility to, 5 phenio_relaxed_subqs.owl NCIT:C126877 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_226400 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:226400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_19138001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:302 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0014550 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016022 biolink:NamedThing early myoclonic encephalopathy Early myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern. phenio_relaxed_subqs.owl UMLS:C0270855 biolink:NamedThing phenio_relaxed_subqs.owl DOID:308 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007142 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000160 biolink:NamedThing epilepsy, familial adult myoclonic phenio_relaxed_subqs.owl MONDO:0008041 biolink:NamedThing myoclonic epilepsy, Hartung type phenio_relaxed_subqs.owl MONDO:0010682 biolink:NamedThing myoclonic epilepsy, progressive, X-linked phenio_relaxed_subqs.owl MONDO:0010790 biolink:NamedThing MERRF syndrome A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy. phenio_relaxed_subqs.owl MONDO:0011506 biolink:NamedThing familial infantile myoclonic epilepsy phenio_relaxed_subqs.owl MONDO:0012245 biolink:NamedThing developmental and epileptic encephalopathy, 3 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene. phenio_relaxed_subqs.owl MONDO:0014595 biolink:NamedThing developmental and epileptic encephalopathy, 30 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene. phenio_relaxed_subqs.owl MONDO:0014916 biolink:NamedThing developmental and epileptic encephalopathy, 41 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene. phenio_relaxed_subqs.owl NCIT:C116593 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_44423001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001900 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1935 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0014661 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004859 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007263 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0014733 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001266 biolink:NamedThing erysipelas An infection of the upper layers of the skin caused by species of streptococcus. Erysipelas results in a fiery red rash with raised edges that can easily be distinguished from the skin around it. The affected skin may be warm to the touch. phenio_relaxed_subqs.owl DOID:11330 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006370 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A46 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_035 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004886 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_44653001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001462 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0014736 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006751 biolink:NamedThing Erysipelothrix infectious disease Infections with bacteria of the genus erysipelothrix. phenio_relaxed_subqs.owl OBO:MESH_D004889 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006752 biolink:NamedThing Erysipelothrix rhusiopathiae infectious disease A disease caused by infection with Erysipelothrix rhusiopathiae. phenio_relaxed_subqs.owl MONDO:0025129 biolink:NamedThing swine erysipelas An acute and chronic contagious disease of young pigs caused by Erysipelothrix insidiosa. phenio_relaxed_subqs.owl OBO:SCTID_367434002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000927 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0014804 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016028 biolink:NamedThing erythromelalgia A rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders. phenio_relaxed_subqs.owl DOID:9240 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_I73.81 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_443.82 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004916 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007571 biolink:NamedThing primary erythermalgia Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder. phenio_relaxed_subqs.owl MONDO:0035149 biolink:NamedThing secondary erythromelalgia phenio_relaxed_subqs.owl NCIT:C34593 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_37151006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1956 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0014805 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006377 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C125383 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:133020 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_709489006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90026 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0014836 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004927 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:8000002 biolink:NamedThing escherichia coli discitis Discitis caused by infection with Escherichia coli. phenio_relaxed_subqs.owl NCIT:C34594 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_71057007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001318 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0014869 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006896 biolink:NamedThing peptic esophagitis Inflammation of the esophagus that is caused by the reflux of gastric juice with contents of the stomach and duodenum. phenio_relaxed_subqs.owl DOID:13976 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004942 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_57643001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001095 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0015029 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005756 biolink:NamedThing ethmoid sinusitis An acute or chronic inflammatory process affecting the mucous membrane of the ethmoid sinus. phenio_relaxed_subqs.owl DOID:9507 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015521 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004810 biolink:NamedThing acute ethmoiditis Acute form of ethmoid sinusitis. phenio_relaxed_subqs.owl NCIT:C34597 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_18643000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007264 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0015190 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006755 biolink:NamedThing euthyroid sick syndrome Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness. phenio_relaxed_subqs.owl DOID:2856 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E07.81 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_790.94 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005067 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C113170 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237542005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000931 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0015231 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000337 biolink:NamedThing exanthema subitum An infection that is due to human herpesvirus (HHV) types 6 or 7; it is characterized by 3-5 days of high fever followed by the acute onset of a rosy, pink, non-pruritic, macular rash that is predominantly on the neck and trunk. phenio_relaxed_subqs.owl UMLS:C0595993 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050495 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005077 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128420 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_54385001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001320 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0015405 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020944 biolink:NamedThing fungal infection of eye Infection by a variety of fungi, usually through four possible mechanisms: superficial infection producing conjunctivitis, keratitis, or lacrimal obstruction; extension of infection from neighboring structures - skin, paranasal sinuses, nasopharynx; direct introduction during surgery or accidental penetrating trauma; or via the blood or lymphatic routes in patients with underlying mycoses. phenio_relaxed_subqs.owl OBO:MESH_D015821 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001263 biolink:NamedThing histoplasmosis retinitis An retinitis caused by infection with Histoplasma capsulatum. phenio_relaxed_subqs.owl MONDO:0033821 biolink:NamedThing fungal keratitis phenio_relaxed_subqs.owl OBO:SCTID_31194008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0015406 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020947 biolink:NamedThing parasitic eye infection Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites. phenio_relaxed_subqs.owl OBO:MESH_D015822 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001812 biolink:NamedThing parasitic eyelid infestation phenio_relaxed_subqs.owl MONDO:0005878 biolink:NamedThing ocular onchocerciasis Onchocerciasis affecting the eye. phenio_relaxed_subqs.owl MONDO:0005879 biolink:NamedThing ocular toxoplasmosis Ocular toxoplasmosis is an infection in the eye caused by the parasite, Toxoplasm a gondii. Toxoplasmosis is the most common cause of eye inflammation in the world. Toxoplamosis can beacquired or present at birth (congenital), having crossed the placenta from a newly infected mother to her fetus. Most humans acquire toxoplasmosis by eating raw or undercooked meat, vegetables or milk products, or by coming into contact with infected cat litterbox or sandboxes.In humans,the infectionusually causes no symptoms, and resolves without treatment in a few months. In individuals with compromised immune systems, Toxoplasm a gondii can reactivate to cause disease. Reactivation of a congenital infection was traditionally thought to be the most common cause ofocular toxoplasmosis, but an acquired infection is now considered to be more common. A toxoplasmosis infection that affects the eye usually attacks the retina andinitially resolves without symptoms. However,the inactive parasite maylaterreactivate causing eyepain, blurred vision, and possibly permanent damage, including blindness. Although most cases of toxoplasmosis resolve on their own,for some,inflammation can be treated with antibiotics and steroids. phenio_relaxed_subqs.owl OBO:SCTID_312418006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0015407 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020950 biolink:NamedThing viral eye infection Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus. phenio_relaxed_subqs.owl OBO:MESH_D015828 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015288 biolink:NamedThing herpes simplex virus keratitis A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (keratitis, dendritic). (Dictionary of Visual Science, 3d ed) phenio_relaxed_subqs.owl MONDO:0015289 biolink:NamedThing infectious epithelial keratitis Infectious epithelial keratitis is a rare, potentially sight-threatening, acquired ocular disease chracterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungic or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent. phenio_relaxed_subqs.owl MONDO:0021032 biolink:NamedThing herpes zoster with dermatitis of eyelid A form of herpes zoster infection characterized by dermatitis of the skin of the eyelid due to reactivation of latent virus associated with the ophthalmic branch of the trigeminal nerve. phenio_relaxed_subqs.owl OBO:SCTID_312132001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0015458 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007710 biolink:NamedThing facial hemiatrophy Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved. phenio_relaxed_subqs.owl DOID:1757 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007338 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005150 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C116916 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:141300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718224004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1214 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0015523 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012897 biolink:NamedThing congenital factor XI deficiency Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery. phenio_relaxed_subqs.owl DOID:2229 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009670 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_286.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005173 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84705 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612416 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_49762007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:329 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0015526 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009315 biolink:NamedThing congenital factor XII deficiency Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions. phenio_relaxed_subqs.owl DOID:2231 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006558 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005175 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131740 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:234000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_46981006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:330 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0015624 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001083 biolink:NamedThing Fanconi renotubular syndrome A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients. phenio_relaxed_subqs.owl DOID:1062 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009120 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005198 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0022948 biolink:NamedThing Deal Barratt Dillon syndrome phenio_relaxed_subqs.owl MONDO:0060778 biolink:NamedThing adult Fanconi syndrome Probably related to a recessive gene, this is Fanconi Syndrome, characterised by adult onset. phenio_relaxed_subqs.owl MONDO:0060779 biolink:NamedThing acquired Fanconi syndrome Fanconi Syndrome caused by exposure to noxious agents. phenio_relaxed_subqs.owl MONDO:0060781 biolink:NamedThing Preeyasombat-Varavithya syndrome phenio_relaxed_subqs.owl MONDO:0100238 biolink:NamedThing inherited Fanconi renotubular syndrome An instance of Fanconi renotubular syndrome that is inherited. phenio_relaxed_subqs.owl NCIT:C3034 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_40488004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0015625 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019391 biolink:NamedThing Fanconi anemia Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. phenio_relaxed_subqs.owl DOID:13636 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006425 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005199 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009213 biolink:NamedThing Fanconi anemia complementation group C Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA. phenio_relaxed_subqs.owl MONDO:0009214 biolink:NamedThing Fanconi anemia complementation group D2 Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. phenio_relaxed_subqs.owl MONDO:0009215 biolink:NamedThing Fanconi anemia complementation group A Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway. phenio_relaxed_subqs.owl MONDO:0010351 biolink:NamedThing Fanconi anemia complementation group B Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B. phenio_relaxed_subqs.owl MONDO:0010953 biolink:NamedThing Fanconi anemia complementation group E Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. phenio_relaxed_subqs.owl MONDO:0011325 biolink:NamedThing Fanconi anemia complementation group F Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM. phenio_relaxed_subqs.owl MONDO:0011584 biolink:NamedThing Fanconi anemia complementation group D1 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML. phenio_relaxed_subqs.owl MONDO:0012186 biolink:NamedThing Fanconi anemia complementation group I Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein. phenio_relaxed_subqs.owl MONDO:0012187 biolink:NamedThing Fanconi anemia complementation group J Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein. phenio_relaxed_subqs.owl MONDO:0012565 biolink:NamedThing Fanconi anemia complementation group N Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene. phenio_relaxed_subqs.owl MONDO:0013248 biolink:NamedThing Fanconi anemia complementation group O Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene. phenio_relaxed_subqs.owl MONDO:0013499 biolink:NamedThing Fanconi anemia complementation group P Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene. phenio_relaxed_subqs.owl MONDO:0013565 biolink:NamedThing Fanconi anemia complementation group G Fanconi anemia caused by mutations of the FANCG gene. phenio_relaxed_subqs.owl MONDO:0013566 biolink:NamedThing Fanconi anemia complementation group L Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene. phenio_relaxed_subqs.owl MONDO:0014108 biolink:NamedThing Fanconi anemia complementation group Q Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene. phenio_relaxed_subqs.owl MONDO:0014638 biolink:NamedThing Fanconi anemia complementation group T Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene. phenio_relaxed_subqs.owl MONDO:0014985 biolink:NamedThing Fanconi anemia complementation group V Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene. phenio_relaxed_subqs.owl MONDO:0014986 biolink:NamedThing Fanconi anemia complementation group R Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene. phenio_relaxed_subqs.owl MONDO:0014987 biolink:NamedThing Fanconi anemia complementation group U Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene. phenio_relaxed_subqs.owl MONDO:0044325 biolink:NamedThing Fanconi anemia, complementation group W phenio_relaxed_subqs.owl MONDO:0054748 biolink:NamedThing Fanconi anemia, complementation group S phenio_relaxed_subqs.owl NCIT:C62505 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_227650 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_30575002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:84 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0015645 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9598 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_729.4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005208 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004187 biolink:NamedThing nodular fasciitis A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity. phenio_relaxed_subqs.owl MONDO:0004831 biolink:NamedThing proliferative fasciitis A rapidly growing, poorly circumscribed, mass-forming proliferation that arises from the subcutaneous tissues. It is characterized by the presence of spindle-shaped fibroblasts, round ganglion-like cells, myxoid to collagenous stroma formation, and high mitotic activity. It recurs only rarely following local excision and does not metastasize. phenio_relaxed_subqs.owl MONDO:0004833 biolink:NamedThing plantar fasciitis Inflammation of the thick tissue on the bottom of the foot (plantar fascia) causing heel pain. The plantar fascia (also called plantar aponeurosis) are bands of fibrous tissue extending from the calcaneal tuberosity to the toes. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with heel spur, they do not appear to be causally related. phenio_relaxed_subqs.owl MONDO:0004834 biolink:NamedThing ischemic fasciitis A reactive, painless lesion which is characterized by a pseudosarcomatous proliferation of fibroblasts and myofibroblasts usually in the deep subcutaneous tissue. It occurs mainly around the limb girdles, sacral region, and greater trochanter. It affects mainly elderly patients and sometimes is associated with physical immobility. Local excision is usually curative. phenio_relaxed_subqs.owl MONDO:0004835 biolink:NamedThing necrotizing fasciitis Necrotizing fasciitis is a serious infection of the skin, the tissue just beneath the skin (subcutaneous tissue), and the tissue that covers internal organs (fascia). Necrotizing fasciitis can be caused by several different types of bacteria, and the infection can arise suddenly and spread quickly. Early signs include flu-like symptoms and redness and pain around the infection site. A prompt diagnosis and treatment are essential.If the infection is not treated promptly, it can lead to multiple organ failure and death. Treatment typically includes intravenous (IV) antibiotics and surgery to remove infected and dead tissue. phenio_relaxed_subqs.owl MONDO:0009175 biolink:NamedThing eosinophilic fasciitis Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed. phenio_relaxed_subqs.owl NCIT:C50559 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_36948007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0015652 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004668 biolink:NamedThing fascioliasis A parasitic infection that is caused by liver flukes, usually Fasciola hepatica, of sheep, goats, and cattle. Humans become infected by eating uncooked, infested aquatic vegetation (classically watercress). adult flukes inhabit the bile ducts, gallbladder, and occasionally ectopic sites. Symptoms arise secondary to inflammatory response or obstruction. phenio_relaxed_subqs.owl UMLS:C1331532 biolink:NamedThing phenio_relaxed_subqs.owl DOID:885 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006428 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B66.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005211 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128387 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_82308007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001324 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0015655 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005759 biolink:NamedThing fascioloidiasis Infection of cattle and other herbivores with the giant liver fluke Fascioloides magna. It is characterized by extensive destruction of the liver parenchyma. phenio_relaxed_subqs.owl DOID:1217 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005213 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_69550000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007268 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0015656 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004672 biolink:NamedThing fasciolopsiasis A small bowel infection that is caused by Fasciolopsis buski, which is endemic in the Far East and Southeast Asia, and which is transmitted via the consumption of raw or undercooked aquatic plants. The spectrum of manifestations range from asymptomatic to intestinal symptoms from local invasion or allergic response. phenio_relaxed_subqs.owl DOID:888 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B66.5 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_121.4 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128388 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_54266002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0015674 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005404 biolink:NamedThing myalgic encephalomeyelitis/chronic fatigue syndrome A medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities. phenio_relaxed_subqs.owl DOID:8544 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015673 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3037 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_51771007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0004540 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1983 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0015702 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001761 biolink:NamedThing favism A condition associated with glucose-6-phosphate dehydrogenase deficiency, which is characterized by hemolysis. phenio_relaxed_subqs.owl DOID:13628 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005236 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34607 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_191172001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0015765 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005254 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0015773 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11042 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008234 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_714.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005258 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84712 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:134750 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_57160007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007269 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:47612 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0015923 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016011 biolink:NamedThing fetal alcohol syndrome Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention). phenio_relaxed_subqs.owl DOID:0050665 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050667 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84713 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_205788004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1915 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0015974 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015137 biolink:NamedThing periodic fever syndrome Fevers of unknown etiology recurring over months or years. phenio_relaxed_subqs.owl UMLS:C3889979 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015158 biolink:NamedThing unexplained periodic fever syndrome phenio_relaxed_subqs.owl MONDO:0017953 biolink:NamedThing hereditary periodic fever syndrome An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl NCIT:C118240 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101995 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0016034 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005219 biolink:NamedThing breast fibrocystic disease Fibrosis associated with cyst formation in the breast parenchyma. phenio_relaxed_subqs.owl DOID:10354 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005348 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002585 biolink:NamedThing breast fibrocystic change, proliferative type Breast fibrocystic change characterized by the presence of epithelial cell hyperplasia. Epithelial atypia may be present or absent. phenio_relaxed_subqs.owl MONDO:0003724 biolink:NamedThing non-proliferative fibrocystic change of the breast Breast fibrocystic change characterized by the absence of epithelial cell hyperplasia. phenio_relaxed_subqs.owl NCIT:C3039 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0003014 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0016037 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007606 biolink:NamedThing fibrodysplasia ossificans progressiva Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites. phenio_relaxed_subqs.owl DOID:13374 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006445 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_728.11 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3040 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:135100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_82725007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:337 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0016053 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005546 biolink:NamedThing fibromyalgia A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation. phenio_relaxed_subqs.owl DOID:631 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012069 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_M79.7 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005356 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C87497 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_203082005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005687 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:41842 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0016065 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018919 biolink:NamedThing McCune-Albright syndrome McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafe-au-lait skin spots, and precocious puberty (PP). phenio_relaxed_subqs.owl UMLS:C0242292 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1858 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006995 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C48627 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:174800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_726029005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:562 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0016085 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016075 biolink:NamedThing filariasis A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by Wuchereria bancrofti and filarioidea of the genus Brugia; Onchocerca volvulus; Loa loa; Mansonella; Dirofilaria; and Dracunculus medinensis, respectively. Tropical eosinophilia is considered a frequent manifestation. phenio_relaxed_subqs.owl DOID:1080 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B74 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_125.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005368 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005761 biolink:NamedThing filarial elephantiasis Parasitic infestation of the human lymphatic system by wuchereria bancrofti or brugia malayi. It is also called lymphatic filariasis. phenio_relaxed_subqs.owl MONDO:0005838 biolink:NamedThing mansonelliasis A parasitic infection caused by the nematode Mansonella. Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia. phenio_relaxed_subqs.owl MONDO:0005957 biolink:NamedThing setariasis Infection with nematodes of the genus Setaria. This condition is usually seen in cattle and equines and is of little pathogenic significance, although migration of the worm to the eye may lead to blindness. phenio_relaxed_subqs.owl MONDO:0016566 biolink:NamedThing loiasis Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis. phenio_relaxed_subqs.owl MONDO:0017137 biolink:NamedThing onchocerciasis Onchocerciasis is a form of filariasis, caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy. phenio_relaxed_subqs.owl NCIT:C34611 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_105706003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2034 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0016089 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020959 biolink:NamedThing Mansonella ozzardi infection An infection that is caused by the organism Mansonella ozzardi. phenio_relaxed_subqs.owl NCIT:C34612 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_30865009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0016154 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005393 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006010 biolink:NamedThing salmonid viral hemorrhagic septicemia A systemic infection of various salmonid and a few nonsalmonid fishes caused by Viral hemorrhagic septicemia virus (see novirhabdovirus), phenio_relaxed_subqs.owl MONDO:0025419 biolink:NamedThing furunculosis A persistent skin infection marked by the presence of furuncles, often chronic and recurrent. In humans, the causative agent is various species of staphylococcus. In salmonid fish (salmonids), the pathogen is aeromonas salmonicida. phenio_relaxed_subqs.owl UMLS:C0016395 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2120 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006457 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005489 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84715 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:305600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_205573006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2092 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0016513 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005535 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0016514 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005536 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007277 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0016627 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018695 biolink:NamedThing avian influenza Infection of domestic and wild fowl and other birds with influenza A virus. Avian influenza usually does not sicken birds, but can be highly pathogenic and fatal in domestic poultry. phenio_relaxed_subqs.owl UMLS:CN237762 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4492 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005585 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_55604004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005222 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:454836 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0016667 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010383 biolink:NamedThing fragile X syndrome A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities. phenio_relaxed_subqs.owl DOID:14261 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006464 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_759.83 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005600 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018670 biolink:NamedThing symptomatic form of fragile X syndrome in female carrier phenio_relaxed_subqs.owl MONDO:0023178 biolink:NamedThing fragile X syndrome type 1 phenio_relaxed_subqs.owl MONDO:0023179 biolink:NamedThing fragile X syndrome type 2 phenio_relaxed_subqs.owl MONDO:0023180 biolink:NamedThing fragile X syndrome type 3 phenio_relaxed_subqs.owl NCIT:C84717 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300624 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_613003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:908 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0016697 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4671 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005611 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000939 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0016719 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0100339 biolink:NamedThing Friedreich ataxia An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty. phenio_relaxed_subqs.owl DOID:12705 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006468 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_334.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005621 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011175 biolink:NamedThing Friedreich ataxia 2 Any Friedreich ataxia with the locus FRDA2, which has linkage to chromosome 9p23-p11 phenio_relaxed_subqs.owl MONDO:0100340 biolink:NamedThing Friedreich ataxia 1 Any Friedreich ataxia in which the cause of the disease is a mutation in the FXN gene. phenio_relaxed_subqs.owl NCIT:C84718 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_10394003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:95 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0016735 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10791 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015522 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001912 biolink:NamedThing acute frontal sinusitis Acute form of frontal sinusitis. phenio_relaxed_subqs.owl NCIT:C34626 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_78737005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0016751 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009249 biolink:NamedThing hereditary fructose intolerance Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated. phenio_relaxed_subqs.owl DOID:9869 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006622 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E74.12 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84720 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:229600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_20052008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:469 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0016756 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009251 biolink:NamedThing fructose-1,6-bisphosphatase deficiency Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants. phenio_relaxed_subqs.owl DOID:5204 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002400 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128119 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:229700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_28183005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:348 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0016782 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016989 biolink:NamedThing Fuchs heterochromic iridocyclitis Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities. phenio_relaxed_subqs.owl DOID:9375 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006791 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_364.21 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_11226001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:263479 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0016788 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009254 biolink:NamedThing fucosidosis Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis. phenio_relaxed_subqs.owl DOID:14500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006473 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005645 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C61274 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:230000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_64716005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:349 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0016952 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018116 biolink:NamedThing galactosemia Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form. phenio_relaxed_subqs.owl DOID:9870 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002424 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_271.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005693 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009255 biolink:NamedThing galactokinase deficiency Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice. phenio_relaxed_subqs.owl MONDO:0009257 biolink:NamedThing galactose epimerase deficiency Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism. phenio_relaxed_subqs.owl MONDO:0009258 biolink:NamedThing classic galactosemia Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease. phenio_relaxed_subqs.owl MONDO:0030105 biolink:NamedThing galactosemia 4 phenio_relaxed_subqs.owl NCIT:C84723 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_230400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_190745006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:352 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0016977 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060262 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_K82 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_575.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005705 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004858 biolink:NamedThing occlusion of gallbladder Blockage of the normal flow of the contents of the gallbladder. phenio_relaxed_subqs.owl MONDO:0004859 biolink:NamedThing hydrops of gallbladder phenio_relaxed_subqs.owl MONDO:0005346 biolink:NamedThing gallstones Solid crystalline precipitates in the biliary tract, usually formed in the gallbladder, resulting in the condition of cholelithiasis. Gallstones, derived from the bile, consist mainly of calcium, cholesterol, or bilirubin. phenio_relaxed_subqs.owl MONDO:0006698 biolink:NamedThing cholecystolithiasis Single or multiple, ovoid or irregular, solid particles that are formed from bile, cholesterol, and calcium in the gallbladder cavity. phenio_relaxed_subqs.owl MONDO:0012365 biolink:NamedThing gallbladder disease 2 phenio_relaxed_subqs.owl MONDO:0012366 biolink:NamedThing gallbladder disease 3 phenio_relaxed_subqs.owl MONDO:0021253 biolink:NamedThing gallbladder neoplasm A neoplasm (disease) that involves the gall bladder. phenio_relaxed_subqs.owl MONDO:0021416 biolink:NamedThing polyp of gallbladder A polyp that involves the gall bladder. phenio_relaxed_subqs.owl MONDO:0043291 biolink:NamedThing Rokitansky-Aschoff sinuses of the gallbladder An abnormality characterized by macroscopic or microscopic outpouchings of gallbladder mucosa into the muscle of the gallbladder wall. It may be associated with cholecystitis or gallstones. phenio_relaxed_subqs.owl NCIT:C34631 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_600803 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_39621005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0003832 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0016978 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002518 biolink:NamedThing gallbladder papillary neoplasm A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the gallbladder. Intraepithelial neoplasia is present. phenio_relaxed_subqs.owl MONDO:0005411 biolink:NamedThing gallbladder cancer A malignant neoplasm involving the gall bladder phenio_relaxed_subqs.owl MONDO:0006216 biolink:NamedThing gallbladder adenoma A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary. phenio_relaxed_subqs.owl MONDO:0006218 biolink:NamedThing gallbladder biliary intraepithelial neoplasia A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity. phenio_relaxed_subqs.owl MONDO:0021503 biolink:NamedThing benign neoplasm of gallbladder A benign neoplasm that involves the gall bladder. phenio_relaxed_subqs.owl NCIT:C3048 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0017083 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017719 biolink:NamedThing gangliosidosis A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway. phenio_relaxed_subqs.owl DOID:2368 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012510 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017720 biolink:NamedThing GM2 gangliosidosis A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS. phenio_relaxed_subqs.owl MONDO:0018149 biolink:NamedThing GM1 gangliosidosis A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features. phenio_relaxed_subqs.owl OBO:SCTID_50967008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309144 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0017097 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019336 biolink:NamedThing Gardner syndrome Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors. phenio_relaxed_subqs.owl OBO:GARD_0006482 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005736 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6728 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_60876000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79665 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0017105 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9159 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A48.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_040.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005738 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_80466000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007279 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0017155 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007652 biolink:NamedThing gastric mucosal hypertrophy MC)nC)trier disease (MD) is a rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss. phenio_relaxed_subqs.owl DOID:8757 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002436 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_535.20 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005758 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C67277 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:137280 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_60002000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000946 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2494 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0017162 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0025420 biolink:NamedThing gastroenteritis, transmissible, of swine A condition of chronic gastroenteritis in adult pigs and fatal gastroenteritis in piglets caused by a coronavirus. phenio_relaxed_subqs.owl OBO:MESH_D005761 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0017168 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007186 biolink:NamedThing gastroesophageal reflux disease A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa. phenio_relaxed_subqs.owl DOID:8534 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_530.81 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005764 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C26781 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:109350 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_235595009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0003948 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0017205 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018150 biolink:NamedThing Gaucher disease Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease). phenio_relaxed_subqs.owl DOID:1926 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008233 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E75.22 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005776 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009268 biolink:NamedThing Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement. phenio_relaxed_subqs.owl MONDO:0011945 biolink:NamedThing Gaucher disease perinatal lethal Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD). phenio_relaxed_subqs.owl MONDO:0012517 biolink:NamedThing atypical Gaucher disease due to saposin C deficiency Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene. phenio_relaxed_subqs.owl NCIT:C61268 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_190794006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:355 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0017409 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005769 biolink:NamedThing geniculate herpes zoster A viral ear infection caused by the spread of varicella-zoster virus to the facial nerves. It is characterized by intense otalgia and a cutaneous vesicular eruption. phenio_relaxed_subqs.owl UMLS:C0458220 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9210 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84763 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_95670000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007281 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0017455 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005772 biolink:NamedThing geotrichosis Infection due to the fungus Geotrichum. phenio_relaxed_subqs.owl DOID:2832 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B48.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005847 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_13969006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007284 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0017495 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007656 biolink:NamedThing Gerstmann-Straussler-Scheinker syndrome A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia. phenio_relaxed_subqs.owl DOID:4249 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007690 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A81.82 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535800 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84727 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:137440 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_67155006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:356 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0017531 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015564 biolink:NamedThing Castleman disease Castleman disease (CD) is a benign lymphoproliferative disorder that may present as a localized or multicentric form. The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms. phenio_relaxed_subqs.owl UMLS:C2931179 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199886 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111157 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000673 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012656 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_D47.Z2 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019752 biolink:NamedThing pediatric Castleman disease Pediatric Castleman disease (PCD) is a form of Castleman disease (CD) with a predominant occurrence in teenagers which is either asymptomatic or manifest by systemic (such as fever, anemia, fatigue and failure to thrive) or compressive symptoms. phenio_relaxed_subqs.owl MONDO:0019753 biolink:NamedThing localized Castleman disease Localized Castleman disease (LCD) is the most common form of Castleman disease (CD) and it is usually asymptomatic or it may present with enlarged lymph nodes. LCD may be cured by surgical resection. phenio_relaxed_subqs.owl MONDO:0019754 biolink:NamedThing multicentric Castleman disease Multicentric castleman disease (MCD) is an aggressive form of Castleman disease that mostly results from human herpesvirus 8 (HHV8) infection. It manifests by fever, diffuse lymphadenopathy, hepatosplenomegaly, Involvement of the respiratory system and increased C-reactive protein. phenio_relaxed_subqs.owl NCIT:C3056 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_207036003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001332 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:160 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0017536 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001103 biolink:NamedThing giardiasis An infection of the small intestine caused by the flagellated protozoan giardia lamblia. It is spread via contaminated food and water and by direct person-to-person contact. phenio_relaxed_subqs.owl DOID:10718 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005873 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_10679007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0017589 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005774 biolink:NamedThing glanders A condition resulting from infection by Burkholderia mallei, which mainly affects horses. phenio_relaxed_subqs.owl DOID:13444 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009536 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A24.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_024 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005896 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34638 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_4639008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007286 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0017671 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021064 biolink:NamedThing jugulotympanic paraganglioma A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the base of the skull and middle ear. phenio_relaxed_subqs.owl OBO:GARD_0010599 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006291 biolink:NamedThing malignant jugulotympanic paraganglioma A jugulotympanic paraganglioma that metastasizes to other anatomic sites. phenio_relaxed_subqs.owl NCIT:C3061 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_127030001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0017689 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019959 biolink:NamedThing glucagonoma Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms. phenio_relaxed_subqs.owl OBO:GARD_0002496 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005935 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C95597 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_16424000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000441 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:97280 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0017919 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002412 biolink:NamedThing glycogen storage disease An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues. phenio_relaxed_subqs.owl DOID:0050728 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2747 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E74.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_271.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006008 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002413 biolink:NamedThing glycogen storage disease I Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. phenio_relaxed_subqs.owl MONDO:0009216 biolink:NamedThing glycogen storage disease due to GLUT2 deficiency Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism. phenio_relaxed_subqs.owl MONDO:0009287 biolink:NamedThing glycogen storage disease due to glucose-6-phosphatase deficiency type IA Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency. phenio_relaxed_subqs.owl MONDO:0009290 biolink:NamedThing glycogen storage disease II Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal. phenio_relaxed_subqs.owl MONDO:0009291 biolink:NamedThing glycogen storage disease III Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy. phenio_relaxed_subqs.owl MONDO:0009292 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases. phenio_relaxed_subqs.owl MONDO:0009293 biolink:NamedThing glycogen storage disease V Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance. phenio_relaxed_subqs.owl MONDO:0009294 biolink:NamedThing glycogen storage disease VI Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease. phenio_relaxed_subqs.owl MONDO:0009295 biolink:NamedThing glycogen storage disease VII Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood. phenio_relaxed_subqs.owl MONDO:0009414 biolink:NamedThing glycogen storage disorder due to hepatic glycogen synthase deficiency Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves. phenio_relaxed_subqs.owl MONDO:0009865 biolink:NamedThing glycogen storage disease due to phosphoglycerate mutase deficiency A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy. phenio_relaxed_subqs.owl MONDO:0009867 biolink:NamedThing lethal congenital glycogen storage disease of heart Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene. phenio_relaxed_subqs.owl MONDO:0009868 biolink:NamedThing glycogen storage disease IXb Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency. phenio_relaxed_subqs.owl MONDO:0010281 biolink:NamedThing Danon disease Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit. phenio_relaxed_subqs.owl MONDO:0010362 biolink:NamedThing glycogen storage disease IXd A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness. phenio_relaxed_subqs.owl MONDO:0010392 biolink:NamedThing glycogen storage disease due to phosphoglycerate kinase 1 deficiency Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities. phenio_relaxed_subqs.owl MONDO:0010598 biolink:NamedThing glycogen storage disease IXa1 Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes. phenio_relaxed_subqs.owl MONDO:0012693 biolink:NamedThing glycogen storage disease due to muscle and heart glycogen synthase deficiency A glycogen storage disease characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase. phenio_relaxed_subqs.owl MONDO:0012747 biolink:NamedThing glycogen storage disease due to aldolase A deficiency Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported. phenio_relaxed_subqs.owl MONDO:0013046 biolink:NamedThing glycogen storage disease due to muscle beta-enolase deficiency Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle. phenio_relaxed_subqs.owl MONDO:0013047 biolink:NamedThing glycogen storage disease due to lactate dehydrogenase M-subunit deficiency A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern. phenio_relaxed_subqs.owl MONDO:0013091 biolink:NamedThing glycogen storage disease IXc A liver PhK deficiency caused by variants in the PHKG2 gene phenio_relaxed_subqs.owl MONDO:0013291 biolink:NamedThing glycogen storage disease XV Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle. phenio_relaxed_subqs.owl MONDO:0014389 biolink:NamedThing polyglucosan body myopathy 1 with or without immunodeficiency A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported. phenio_relaxed_subqs.owl MONDO:0014526 biolink:NamedThing polyglucosan body myopathy type 2 Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene. phenio_relaxed_subqs.owl MONDO:0016527 biolink:NamedThing glycogen storage disease due to lactate dehydrogenase deficiency phenio_relaxed_subqs.owl MONDO:0020693 biolink:NamedThing glycogen storage disease due to liver phosphorylase kinase deficiency A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood. phenio_relaxed_subqs.owl MONDO:0100439 biolink:NamedThing glycogen storage disease IXa2 Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK in liver, but normal activity in erythrocytes. phenio_relaxed_subqs.owl NCIT:C61272 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_29633007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79201 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0017921 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1968741 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2752 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002503 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005714 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017694 biolink:NamedThing glycogen storage disease due to acid maltase deficiency, infantile onset Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal. phenio_relaxed_subqs.owl MONDO:0018485 biolink:NamedThing glycogen storage disease due to acid maltase deficiency, late-onset Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes. phenio_relaxed_subqs.owl NCIT:C84734 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:232300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_274864009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:365 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0017922 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204781 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2748 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009442 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006010 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84736 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:232400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_66937008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:366 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0017923 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204783 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2750 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002520 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009897 biolink:NamedThing adult polyglucosan body disease Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia. phenio_relaxed_subqs.owl MONDO:0017695 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form phenio_relaxed_subqs.owl MONDO:0017696 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form phenio_relaxed_subqs.owl MONDO:0017697 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form phenio_relaxed_subqs.owl MONDO:0017698 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form phenio_relaxed_subqs.owl MONDO:0017699 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form phenio_relaxed_subqs.owl MONDO:0017700 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form phenio_relaxed_subqs.owl MONDO:0017701 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form phenio_relaxed_subqs.owl NCIT:C84737 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:232500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_124267007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:367 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0017924 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2746 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006528 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006012 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84738 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:232600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_55912009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:368 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0017925 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2754 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006529 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006013 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126875 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:232700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_29291001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:369 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0017926 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11721 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005686 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006014 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C118437 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:232800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_89597008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:371 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0017927 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111042 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2751 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006538 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564421 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006015 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:306000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_41527003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000952 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0017980 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009297 biolink:NamedThing familial renal glucosuria Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2). phenio_relaxed_subqs.owl UMLS:C3245525 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9432 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007548 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_271.4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006030 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:233100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_267430007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001151 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:69076 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0018013 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005776 biolink:NamedThing gnathomiasis An infection that is caused by nematodes of the genus Gnathostoma, which is commonly found in Southeast Asia, and which is transmitted via the consumption of contaminated raw/undercooked birds, eels, fish, frogs, or reptiles. The pattern of symptoms is species-dependent, and extraintestinal manifestations are due to larval migration (e.g., pulmonary infiltrates, eosinophilic meningitis, or painful, pruritic subcutaneous swellings, and peripheral blood eosinophilia). phenio_relaxed_subqs.owl DOID:11379 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009286 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B83.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_128.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D058429 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128395 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_44086001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007289 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0018018 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015511 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0018023 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006869 biolink:NamedThing nodular goiter Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones. phenio_relaxed_subqs.owl DOID:13197 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006044 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000334 biolink:NamedThing multinodular goiter Nodular goiter characterized by more than one discrete tissue mass. phenio_relaxed_subqs.owl NCIT:C131437 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_419153005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001062 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0018024 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006986 biolink:NamedThing substernal goiter An enlarged thyroid gland with at least 50% of the gland situated behind the sternum. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the trachea leading to deviation, narrowing, and respiratory symptoms. phenio_relaxed_subqs.owl DOID:13200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006045 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_66392007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001198 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0018050 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2277 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006058 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000088 biolink:NamedThing precocious puberty Unusually early sexual maturity. phenio_relaxed_subqs.owl MONDO:0002146 biolink:NamedThing hypogonadism A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation. phenio_relaxed_subqs.owl MONDO:0010768 biolink:NamedThing gonadoblastoma A mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells which resemble seminoma cells and small cells which resemble Sertoli or granulosa cells. It occurs in the testis and the ovary and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype. phenio_relaxed_subqs.owl NCIT:C26786 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0018054 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010765 biolink:NamedThing 46,XY complete gonadal dysgenesis 46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype. phenio_relaxed_subqs.owl UMLS:C2936694 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14448 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005068 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006061 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007938 biolink:NamedThing 46,XY sex reversal 4 Sex reversal in an individual associated with a 9p24.3 deletion. phenio_relaxed_subqs.owl MONDO:0009301 biolink:NamedThing 46,XY sex reversal 7 phenio_relaxed_subqs.owl MONDO:0010226 biolink:NamedThing 46,XY sex reversal 2 phenio_relaxed_subqs.owl MONDO:0011766 biolink:NamedThing 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome phenio_relaxed_subqs.owl MONDO:0013066 biolink:NamedThing 46,XY sex reversal 3 phenio_relaxed_subqs.owl MONDO:0013120 biolink:NamedThing 46,XY sex reversal 5 phenio_relaxed_subqs.owl MONDO:0013410 biolink:NamedThing 46,XY sex reversal 6 phenio_relaxed_subqs.owl MONDO:0013664 biolink:NamedThing 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency phenio_relaxed_subqs.owl MONDO:0014480 biolink:NamedThing 46,XY sex reversal 9 phenio_relaxed_subqs.owl MONDO:0014634 biolink:NamedThing 46,XY sex reversal 10 phenio_relaxed_subqs.owl MONDO:0020712 biolink:NamedThing 46,XY sex reversal 1 phenio_relaxed_subqs.owl MONDO:8000015 biolink:NamedThing 46,XY sex reversal 11 Any 46,XY complete gonadal dysgenesis in which the cause of the disease is a mutation in the DHX37 gene. phenio_relaxed_subqs.owl NCIT:C120198 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_400044 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_95218005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:242 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0018055 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001969 biolink:NamedThing mixed gonadal dysgenesis A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution. phenio_relaxed_subqs.owl DOID:14449 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002539 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006060 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_83579008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0018078 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020971 biolink:NamedThing gonococcal urethritis Inflammation of the urethra secondary to infection with Neisseria gonorrhoeae; this infection is spread through sexual contact. phenio_relaxed_subqs.owl NCIT:C26787 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_236682002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0018081 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004277 biolink:NamedThing gonorrhea A common sexually transmitted bacterial infection caused by Neisseria gonorrhoeae. It is transmitted through vaginal, oral, or anal intercourse. Infected individuals may be asymptomatic. Symptoms in males include burning sensation during urination, discharge from the penis, and painful swelling of the testes. Symptoms in females include painful urination, vaginal discharge, and vaginal bleeding between periods. If untreated, the infection may lead to pelvic inflammatory disease. phenio_relaxed_subqs.owl DOID:7551 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006499 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006069 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001027 biolink:NamedThing gonococcal seminal vesiculitis A gonorrhea that involves the seminal vesicle. phenio_relaxed_subqs.owl MONDO:0001640 biolink:NamedThing gonococcal spondylitis An spondylitis caused by infection with Neisseria gonorrhoeae. phenio_relaxed_subqs.owl MONDO:0001719 biolink:NamedThing gonococcal bursitis An bursitis caused by infection with Neisseria gonorrhoeae. phenio_relaxed_subqs.owl MONDO:0004853 biolink:NamedThing gonococcal endophthalmia phenio_relaxed_subqs.owl MONDO:0021157 biolink:NamedThing gonococcal cervicitis phenio_relaxed_subqs.owl MONDO:0021158 biolink:NamedThing gonococcal epididymo-orchitis phenio_relaxed_subqs.owl MONDO:0021159 biolink:NamedThing gonococcal salpingitis An salpingitis caused by infection with Neisseria gonorrhoeae. phenio_relaxed_subqs.owl MONDO:0021160 biolink:NamedThing gonococcal cystitis An cystitis caused by infection with Neisseria gonorrhoeae. phenio_relaxed_subqs.owl MONDO:0021161 biolink:NamedThing gonococcal prostatitis An prostatitis (disease) caused by infection with Neisseria gonorrhoeae. phenio_relaxed_subqs.owl MONDO:0041903 biolink:NamedThing gonococcal infection of joint phenio_relaxed_subqs.owl NCIT:C92950 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_15628003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100642 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0018179 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001490 biolink:NamedThing corneal granular dystrophy A stromal corneal dystrophy that is caused by mutation(s) in the TGFBI gene. phenio_relaxed_subqs.owl DOID:12318 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_H18.53 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_371.53 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34651 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_45283008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0018190 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005777 biolink:NamedThing granuloma inguinale A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia. phenio_relaxed_subqs.owl DOID:9113 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009532 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A58 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_099.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006100 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005834 biolink:NamedThing lymphogranuloma venereum Infection with the organism Mycobacterium. phenio_relaxed_subqs.owl NCIT:C3065 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_28867007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007291 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0018202 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002341 biolink:NamedThing granulomatous angiitis Inflammation of the arteries that is characterized by the presence of granulomas. phenio_relaxed_subqs.owl DOID:2555 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34653 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0018203 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018305 biolink:NamedThing chronic granulomatous disease Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas. phenio_relaxed_subqs.owl DOID:3265 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006105 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009307 biolink:NamedThing granulomatous disease with defect in neutrophil chemotaxis phenio_relaxed_subqs.owl MONDO:0009308 biolink:NamedThing granulomatous disease, chronic, autosomal recessive, cytochrome b-negative phenio_relaxed_subqs.owl MONDO:0009309 biolink:NamedThing granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF1 gene. phenio_relaxed_subqs.owl MONDO:0009310 biolink:NamedThing granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene. phenio_relaxed_subqs.owl MONDO:0010600 biolink:NamedThing granulomatous disease, chronic, X-linked phenio_relaxed_subqs.owl MONDO:0013507 biolink:NamedThing granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 phenio_relaxed_subqs.owl MONDO:0030066 biolink:NamedThing granulomatous disease, chronic, autosomal recessive, 5 phenio_relaxed_subqs.owl NCIT:C26788 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_306400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_387759001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:379 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0018206 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006036 biolink:NamedThing granulosa cell tumor A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms. phenio_relaxed_subqs.owl DOID:2999 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006106 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003395 biolink:NamedThing testicular granulosa cell tumor A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile. phenio_relaxed_subqs.owl MONDO:0023283 biolink:NamedThing ovarian granulosa cell tumor A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis. phenio_relaxed_subqs.owl NCIT:C3070 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_GRCT biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000032 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0018378 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016218 biolink:NamedThing Guillain-Barre syndrome A spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients. GBS is clinically heterogeneous and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants. phenio_relaxed_subqs.owl DOID:12842 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006554 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_G61.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020275 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007691 biolink:NamedThing Guillain-Barre syndrome, familial A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy. phenio_relaxed_subqs.owl MONDO:0016493 biolink:NamedThing variant of Guillain-Barre syndrome phenio_relaxed_subqs.owl MONDO:0020347 biolink:NamedThing acute inflammatory demyelinating polyradiculoneuropathy An inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barre syndrome (GBS). phenio_relaxed_subqs.owl MONDO:0020348 biolink:NamedThing acute motor and sensory axonal neuropathy Acute motor-sensory axonal neuropathy (AMSAN) is a motor-sensory, axonal form of Guillain-BarrC) syndrome (GBS). phenio_relaxed_subqs.owl MONDO:0020349 biolink:NamedThing acute motor axonal neuropathy Acute motor axonal neuropathy (AMAN) is a pure motor axonal form of Guillain-BarrC) syndrome (GBS). phenio_relaxed_subqs.owl NCIT:C116345 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_40956001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007292 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2103 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0018413 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020540 biolink:NamedThing ovarian gynandroblastoma A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both. phenio_relaxed_subqs.owl UMLS:C0346178 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009665 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3072 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254867003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000422 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99914 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0018418 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001571 biolink:NamedThing gynecomastia Development of breast tissue in males. phenio_relaxed_subqs.owl DOID:12698 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006177 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001323 biolink:NamedThing infant gynecomastia Transient bilateral swelling of breast tissue in a neonate that results from the waning influence of maternal estrogen. phenio_relaxed_subqs.owl NCIT:C3073 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_4754008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0018425 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009796 biolink:NamedThing ornithine aminotransferase deficiency A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract. phenio_relaxed_subqs.owl DOID:1415 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006556 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007272 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538071 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015799 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84744 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:258870 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:414 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0018477 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005778 biolink:NamedThing haemonchiasis Infection with nematodes of the genus haemonchus, characterized by digestive abnormalities and anemia similar to that from hookworm infestation. phenio_relaxed_subqs.owl DOID:3332 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006188 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007293 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0018522 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009318 biolink:NamedThing Hallermann-Streiff syndrome Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases. phenio_relaxed_subqs.owl DOID:4534 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000288 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006210 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84746 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:234100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_7903009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2108 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0018523 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009319 biolink:NamedThing pantothenate kinase-associated neurodegeneration Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system. phenio_relaxed_subqs.owl DOID:3981 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006564 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006211 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016304 biolink:NamedThing classic pantothenate kinase-associated neurodegeneration phenio_relaxed_subqs.owl MONDO:0016305 biolink:NamedThing atypical pantothenate kinase-associated neurodegeneration phenio_relaxed_subqs.owl NCIT:C84988 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:234200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_2992000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:157850 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0018553 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016063 biolink:NamedThing Cowden disease phenio_relaxed_subqs.owl DOID:6457 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006202 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006223 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008021 biolink:NamedThing Cowden syndrome 1 Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene. phenio_relaxed_subqs.owl MONDO:0012878 biolink:NamedThing Cowden syndrome 2 Any Cowden disease in which the cause of the disease is a mutation in the SDHB gene. phenio_relaxed_subqs.owl MONDO:0014045 biolink:NamedThing Cowden syndrome 3 Any Cowden disease in which the cause of the disease is a mutation in the SDHD gene. phenio_relaxed_subqs.owl MONDO:0014046 biolink:NamedThing Cowden syndrome 4 Any Cowden disease in which the cause of the disease is a mutation in the KLLN gene. phenio_relaxed_subqs.owl MONDO:0014047 biolink:NamedThing Cowden syndrome 5 Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA gene. phenio_relaxed_subqs.owl MONDO:0014048 biolink:NamedThing Cowden syndrome 6 Any Cowden disease in which the cause of the disease is a mutation in the AKT1 gene. phenio_relaxed_subqs.owl MONDO:0014802 biolink:NamedThing Cowden syndrome 7 Any Cowden disease in which the cause of the disease is a mutation in the SEC23B gene. phenio_relaxed_subqs.owl MONDO:0042961 biolink:NamedThing sacral hemangiomas multiple congenital abnormalities phenio_relaxed_subqs.owl NCIT:C3076 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_158350 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_58037000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:201 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0018572 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10881 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_074.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006232 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128439 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_266108008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007294 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0018609 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009324 biolink:NamedThing Hartnup disease Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine). phenio_relaxed_subqs.owl DOID:1060 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006569 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006250 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84748 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:234500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_80902009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2116 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0018835 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006357 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000960 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0018889 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004664 biolink:NamedThing helminthiasis A parasitic infection characterized by the infestation with worms, mainly in the intestine. phenio_relaxed_subqs.owl DOID:883 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006578 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B65-B83 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_128.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006373 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000295 biolink:NamedThing acanthocephaliasis An disease or disorder caused by infection with Acanthocephala. phenio_relaxed_subqs.owl MONDO:0004662 biolink:NamedThing heterophyiasis An infection that is caused by the intestinal fluke Heterophyes heterophyes, which is most commonly found in Asia, the Middle East, and Africa, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection. phenio_relaxed_subqs.owl MONDO:0004666 biolink:NamedThing metagonimiasis An infection that is most commonly caused by the intestinal fluke Metagonimus yokogawai, which is most commonly found in the Far East, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection. phenio_relaxed_subqs.owl MONDO:0004755 biolink:NamedThing monieziasis Infection of ruminants with tapeworms of the genus Moniezia. phenio_relaxed_subqs.owl MONDO:0005802 biolink:NamedThing hymenolepiasis A parasitic infection caused by tapeworms. Most infected individuals do not have symptoms. When symptoms appear, they include diarrhea, abdominal pain, restlessness, and irritability. phenio_relaxed_subqs.owl MONDO:0005870 biolink:NamedThing necatoriasis A disorder caused by an infection with hookworms of the genus Necator, which settle in the host's small intestine, and cause abdominal pain, diarrhea, weight loss, and anemia. phenio_relaxed_subqs.owl MONDO:0005871 biolink:NamedThing Nematoda infectious disease Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in humans. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans. phenio_relaxed_subqs.owl MONDO:0005884 biolink:NamedThing opisthorchiasis Infection with flukes of the genus Opisthorchis. phenio_relaxed_subqs.owl MONDO:0005895 biolink:NamedThing paragonimiasis A parasitic infection caused by trematodes of the Paragonimus genus. Humans are infected from ingestion of raw or undercooked food. It results in chronic lung infection and eosinophilia. phenio_relaxed_subqs.owl MONDO:0015254 biolink:NamedThing schistosomiasis An infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic. phenio_relaxed_subqs.owl MONDO:0019143 biolink:NamedThing angiostrongyliasis A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur. phenio_relaxed_subqs.owl MONDO:0024271 biolink:NamedThing intestinal helminthiasis A parasitic helminthiasis infectious disease that involves the intestine. phenio_relaxed_subqs.owl MONDO:0025082 biolink:NamedThing helminthiasis, animal Infestation of animals with parasitic worms of the helminth class. The infestation may be experimental or veterinary. phenio_relaxed_subqs.owl MONDO:0042488 biolink:NamedThing Cestode infectious disease Infections with true tapeworms of the helminth subclass Cestoda. phenio_relaxed_subqs.owl NCIT:C84751 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_27601005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001342 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0018891 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006374 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0025263 biolink:NamedThing strongyle infections, equine Infection of horses with parasitic nematodes of the superfamily strongyloidea. Characteristics include the development of hemorrhagic nodules on the abdominal peritoneum. phenio_relaxed_subqs.owl UMLS:C0018916 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006500 biolink:NamedThing hemangioma A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels. phenio_relaxed_subqs.owl DOID:255 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010759 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_228.00 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006391 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000898 biolink:NamedThing malignant hemangioma A malignant form of hemangioma. phenio_relaxed_subqs.owl MONDO:0001256 biolink:NamedThing arteriovenous hemangioma/malformation A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures. phenio_relaxed_subqs.owl MONDO:0001974 biolink:NamedThing hemangioma of orbit A hemangioma arising from the orbit. phenio_relaxed_subqs.owl MONDO:0002328 biolink:NamedThing intracranial hemangioma A hemangioma arising from the brain and meninges. phenio_relaxed_subqs.owl MONDO:0002337 biolink:NamedThing intra-abdominal hemangioma A hemangioma arising from organs within the abdominal cavity. phenio_relaxed_subqs.owl MONDO:0002343 biolink:NamedThing splenic hemangioma A hemangioma arising from the spleen. phenio_relaxed_subqs.owl MONDO:0002404 biolink:NamedThing liver hemangioma A hemangioma arising from the liver. phenio_relaxed_subqs.owl MONDO:0002407 biolink:NamedThing capillary hemangioma A common hemangioma characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells. phenio_relaxed_subqs.owl MONDO:0002414 biolink:NamedThing gastric hemangioma A hemangioma arising from the stomach. phenio_relaxed_subqs.owl MONDO:0003083 biolink:NamedThing venous hemangioma A rare slow growing benign tumor of aberrant and ectatic venous connections. phenio_relaxed_subqs.owl MONDO:0003096 biolink:NamedThing deep hemangioma A hemangioma arising from the deep soft tissues. phenio_relaxed_subqs.owl MONDO:0003110 biolink:NamedThing skin hemangioma A hemangioma arising from the skin. phenio_relaxed_subqs.owl MONDO:0003115 biolink:NamedThing subglottic hemangioma A hemangioma arising from the subglottic area. phenio_relaxed_subqs.owl MONDO:0003126 biolink:NamedThing breast hemangioma A capillary or cavernous hemangioma arising from the breast. phenio_relaxed_subqs.owl MONDO:0003154 biolink:NamedThing hemangioma of peripheral nerve A hemangioma arising from the peripheral nerves. phenio_relaxed_subqs.owl MONDO:0003155 biolink:NamedThing cavernous hemangioma A hemangioma characterized by the presence of cavernous vascular spaces. phenio_relaxed_subqs.owl MONDO:0003172 biolink:NamedThing glomeruloid hemangioma phenio_relaxed_subqs.owl MONDO:0003194 biolink:NamedThing hemangioma of lung A hemangioma that involves the lung. phenio_relaxed_subqs.owl MONDO:0003206 biolink:NamedThing acquired hemangioma A hemangioma that is not present at birth but develops later in life. phenio_relaxed_subqs.owl MONDO:0003241 biolink:NamedThing central nervous system hemangioma A hemangioma arising from the brain and spinal cord. phenio_relaxed_subqs.owl MONDO:0003258 biolink:NamedThing hobnail hemangioma A hemangioma characterized by the presence of hobnail endothelial cells. phenio_relaxed_subqs.owl MONDO:0003948 biolink:NamedThing cerebral hemangioma A hemangioma arising from the cerebral hemisphere. phenio_relaxed_subqs.owl MONDO:0003951 biolink:NamedThing scrotal hemangioma A hemangioma arising from the skin of the scrotum. phenio_relaxed_subqs.owl MONDO:0004519 biolink:NamedThing synovial angioma A rare hemangioma arising from synovium lining surfaces. phenio_relaxed_subqs.owl MONDO:0006375 biolink:NamedThing placental hemangioma A hemangioma arising from the fetal blood vessels in the placental villi. phenio_relaxed_subqs.owl MONDO:0006557 biolink:NamedThing hemangioma of subcutaneous tissue A hemangioma arising from the subcutaneous soft tissues. phenio_relaxed_subqs.owl MONDO:0007707 biolink:NamedThing hemangiomas of small intestine A hemangioma that involves the small intestine. phenio_relaxed_subqs.owl MONDO:0011191 biolink:NamedThing capillary infantile hemangioma phenio_relaxed_subqs.owl MONDO:0016222 biolink:NamedThing spindle cell hemangioma Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in KaposiBs sarcoma and located in the dermis and subcutis. phenio_relaxed_subqs.owl MONDO:0016223 biolink:NamedThing infantile hemangioma of rare localization phenio_relaxed_subqs.owl MONDO:0018715 biolink:NamedThing congenital hemangioma A hemangioma present and fully formed at birth. The different types are Rapidly involuting congenital hemangiomas (RICH), Partially involuting congenital hemangioma (PICH) and Non-involuting congenital hemangiomas (NICH). phenio_relaxed_subqs.owl MONDO:0021169 biolink:NamedThing epithelioid hemangioma A hemangioma characterized by the presence of epithelioid endothelial cells. phenio_relaxed_subqs.owl MONDO:0021541 biolink:NamedThing hemangioma of retina A hemangioma that involves the retina. phenio_relaxed_subqs.owl MONDO:0021542 biolink:NamedThing hemangioma of choroid A hemangioma that involves the optic choroid. phenio_relaxed_subqs.owl MONDO:0021543 biolink:NamedThing hemangioma of gingiva A hemangioma that involves the gingiva. phenio_relaxed_subqs.owl MONDO:0022985 biolink:NamedThing diffuse cavernous hemangioma of the rectum phenio_relaxed_subqs.owl NCIT:C3085 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_HEMA biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_400210000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000635 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0018920 biolink:NamedThing phenio_relaxed_subqs.owl DOID:483 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006392 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001975 biolink:NamedThing cavernous hemangioma of orbit A cavernous hemangioma arising from the orbit. phenio_relaxed_subqs.owl MONDO:0002327 biolink:NamedThing intracranial cavernous angioma A cavernous hemangioma arising from the brain and meninges. phenio_relaxed_subqs.owl MONDO:0002526 biolink:NamedThing dermal unilateral segmental cavernous angioma phenio_relaxed_subqs.owl MONDO:0003643 biolink:NamedThing giant hemangioma A cavernous hemangioma characterized by the presence of hylanized vascular channels and is often associated with the presence of calcifications, fibrosis, and hemorrhage. phenio_relaxed_subqs.owl MONDO:0003644 biolink:NamedThing cavernous hemangioma of colon A cavernous hemangioma arising from the colon. phenio_relaxed_subqs.owl MONDO:0003645 biolink:NamedThing cavernous hemangioma of face A cavernous hemangioma arising from the face. phenio_relaxed_subqs.owl MONDO:0006267 biolink:NamedThing liver cavernous hemangioma A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females. phenio_relaxed_subqs.owl MONDO:0021281 biolink:NamedThing cavernous hemangioma of retina A cavernous hemangioma that involves the retina. phenio_relaxed_subqs.owl NCIT:C3086 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_416824008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000151 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0019068 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015542 biolink:NamedThing secondary hemophagocytic lymphohistiocytosis Hemophagocytic lymphohistiocytosis due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia. phenio_relaxed_subqs.owl UMLS:C4054044 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199700 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015544 biolink:NamedThing acquired hemophagocytic lymphohistiocytosis associated with malignant disease phenio_relaxed_subqs.owl MONDO:0015545 biolink:NamedThing macrophage activation syndrome A complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms. phenio_relaxed_subqs.owl NCIT:C121184 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:158041 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0019069 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010602 biolink:NamedThing hemophilia A The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency. phenio_relaxed_subqs.owl UMLS:CN239112 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12134 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006591 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006467 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010603 biolink:NamedThing hemophilia A with vascular abnormality phenio_relaxed_subqs.owl MONDO:0015719 biolink:NamedThing severe hemophilia A Severe hemophilia A is a form of hemophilia A characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. phenio_relaxed_subqs.owl MONDO:0015720 biolink:NamedThing moderately severe hemophilia A Moderately severe hemophilia A is a form of hemophilia A characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. phenio_relaxed_subqs.owl MONDO:0015721 biolink:NamedThing mild hemophilia A Mild hemophilia A is a form of hemophilia A characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. phenio_relaxed_subqs.owl MONDO:0015787 biolink:NamedThing symptomatic form of hemophilia A in female carriers A form of hemophilia A that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII. phenio_relaxed_subqs.owl NCIT:C27146 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:134500 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:306700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234440005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007267 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98878 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0019097 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017874 biolink:NamedThing Argentine hemorrhagic fever Argentine hemorrhagic fever (AHF), caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations. phenio_relaxed_subqs.owl DOID:0050194 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_58868000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:319223 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0019099 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020501 biolink:NamedThing Crimean-Congo hemorrhagic fever Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure. phenio_relaxed_subqs.owl UMLS:C1304456 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12287 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A98.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006479 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34682 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_402919000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99827 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0019103 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017882 biolink:NamedThing Omsk hemorrhagic fever Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis. phenio_relaxed_subqs.owl DOID:992 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008254 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A98.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_065.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006481 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_48113006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:319266 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0019104 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018087 biolink:NamedThing viral hemorrhagic fever A viral infectious disease caused by RNA viruses in the Arenaviridae, Bunyaviridae, Filoviridae, or Flaviviridae family, and characterized by a severe multisystem syndrome, with damage to the vascular system and hemorrhaging. phenio_relaxed_subqs.owl UMLS:CN204409 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005494 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006482 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005651 biolink:NamedThing arenavirus hemorrhagic fever A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus. phenio_relaxed_subqs.owl MONDO:0005737 biolink:NamedThing Ebola hemorrhagic fever A viral hemorrhagic fever that is caused by the Ebola virus, which is transmitted by contact with infected animals or humans; it is characterized by high fever, unexplained bleeding, and a high mortality rate. phenio_relaxed_subqs.owl MONDO:0005820 biolink:NamedThing Lassa fever A viral hemorrhagic fever that is caused by the Lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss. phenio_relaxed_subqs.owl MONDO:0017872 biolink:NamedThing Lujo hemorrhagic fever Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission. phenio_relaxed_subqs.owl MONDO:0017875 biolink:NamedThing Bolivian hemorrhagic fever Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations. phenio_relaxed_subqs.owl MONDO:0017876 biolink:NamedThing Venezuelan hemorrhagic fever Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations. phenio_relaxed_subqs.owl MONDO:0017877 biolink:NamedThing Brazilian hemorrhagic fever Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death. phenio_relaxed_subqs.owl MONDO:0017878 biolink:NamedThing Chapare hemorrhagic fever Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since. phenio_relaxed_subqs.owl MONDO:0017880 biolink:NamedThing Rift valley fever Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms. phenio_relaxed_subqs.owl MONDO:0017881 biolink:NamedThing Kyasanur forest disease Kyasanura forest disease (KFD), caused by the KFD virus, is an arbovirus characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations. phenio_relaxed_subqs.owl MONDO:0018081 biolink:NamedThing hemorrhagic fever-renal syndrome Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations. phenio_relaxed_subqs.owl MONDO:0020500 biolink:NamedThing Marburg hemorrhagic fever Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure. phenio_relaxed_subqs.owl NCIT:C36170 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_240523007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:341 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0019114 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12119 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006595 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006486 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001355 biolink:NamedThing ocular siderosis A hemosiderosis that involves the camera-type eye. phenio_relaxed_subqs.owl MONDO:0006507 biolink:NamedThing hereditary hemochromatosis An inherited metabolic disorder characterized by iron accumulation in the tissues. phenio_relaxed_subqs.owl MONDO:0008346 biolink:NamedThing pulmonary hemosiderosis Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients. phenio_relaxed_subqs.owl NCIT:C82892 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_39011001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0019159 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005790 biolink:NamedThing hepatitis A virus infection Acute inflammation of the liver caused by the hepatitis A virus. It is highly contagious and usually contracted through close contact with an infected individual or their feces, contaminated food or water. phenio_relaxed_subqs.owl DOID:12549 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006506 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3096 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_40468003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007305 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0019163 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005344 biolink:NamedThing hepatitis B virus infection A viral infection caused by the hepatitis B virus. phenio_relaxed_subqs.owl DOID:2043 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006509 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005366 biolink:NamedThing chronic hepatitis B virus infection Chronic form of hepatitis B infection. phenio_relaxed_subqs.owl MONDO:0100370 biolink:NamedThing acute hepatitis B virus infection A new infection by the hepatitis B virus, which can be transmitted by direct contact of infected blood with mucous membranes or open areas of the skin. Signs and symptoms may include loss of appetite, joint and muscle pain, low-grade fever and stomach pain. Two to six percent of adults progress to a chronic infection, while 90% of infants become chronically ill. A vaccine is available for those at risk. phenio_relaxed_subqs.owl NCIT:C3097 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_66071002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0004197 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0019196 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005231 biolink:NamedThing hepatitis C virus infection A viral infection caused by the hepatitis C virus. phenio_relaxed_subqs.owl DOID:1883 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_070.54 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006526 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005354 biolink:NamedThing chronic hepatitis C virus infection Chronic form of hepatitis C infection. phenio_relaxed_subqs.owl MONDO:0100371 biolink:NamedThing acute hepatitis C virus infection A new infection by the hepatitis C virus, which can be detected in blood. Signs and symptoms may include right upper quadrant abdominal pain, jaundice, dark urine, white stools and nausea. Approximately 15%-25% individuals clear the virus from their bodies without treatment. 75%-85% individuals develop chronic hepatitis C. There are possible treatments depending on individual characteristics. phenio_relaxed_subqs.owl NCIT:C3098 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_128302006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0003047 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0019202 biolink:NamedThing phenio_relaxed_subqs.owl DOID:893 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007893 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006527 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84756 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:277900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_88518009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:905 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0019212 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001382 biolink:NamedThing hepatorenal syndrome Hepatorenal syndrome is a form of impaired kidney function that occurs in individuals with advanced chronic liver disease. As many as 40% of individuals with cirrhosis and ascites will develop hepatorenal syndrome. Symptoms may include fatigue, abdominal pain, and a general feeling of ill health (malaise). There are two distinct types of hepatorenal syndrome. Type I progresses quickly (within days), leading to kidney failure. Individuals with type I typically have dramatically reduced urine output, edema, and jaundice, and often suffer from hepatic encephalopathy. Type II progresses more slowly, over weeks or months, and the symptoms are less severe. The cause of hepatorenal syndrome is unknown. A contributing factor seems to be a narrowing of the blood vessels that connect into the kidneys. This causes a decrease in blood flow to the kidneys, impairing their function. In some cases, triggers or precipitating factors (infections, blood loss from the gastrointestinal tract, low blood pressure) are involved. Treatment is aimed at helping the liver work better and maintaining kidney function. In many cases, a liver transplant is needed. In some cases, individuals also need a kidney transplant. phenio_relaxed_subqs.owl DOID:11823 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006610 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_K76.7 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_572.4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006530 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C113400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_51292008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0019243 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019623 biolink:NamedThing hereditary angioedema Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. phenio_relaxed_subqs.owl UMLS:CN239191 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14735 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005979 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D054179 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012526 biolink:NamedThing hereditary angioedema type 3 Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. phenio_relaxed_subqs.owl MONDO:0019013 biolink:NamedThing non-histaminic angioedema Angioedema is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. phenio_relaxed_subqs.owl MONDO:0023660 biolink:NamedThing angioedema, hereditary, 6 phenio_relaxed_subqs.owl MONDO:0025712 biolink:NamedThing angioedema, hereditary, 4 phenio_relaxed_subqs.owl MONDO:0025713 biolink:NamedThing angioedema, hereditary, 7 phenio_relaxed_subqs.owl MONDO:0030293 biolink:NamedThing angioedema, hereditary, 5 phenio_relaxed_subqs.owl MONDO:0030298 biolink:NamedThing angioedema, hereditary, 8 phenio_relaxed_subqs.owl MONDO:0033946 biolink:NamedThing hereditary angioedema with C1Inh deficiency Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein. phenio_relaxed_subqs.owl MONDO:0033947 biolink:NamedThing hereditary angioedema with normal C1Inh phenio_relaxed_subqs.owl MONDO:0035734 biolink:NamedThing hereditary angioedema with normal C1inh not related to F12 or PLG variant phenio_relaxed_subqs.owl NCIT:C84758 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_106100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_82966003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:91378 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0019247 biolink:NamedThing phenio_relaxed_subqs.owl DOID:630 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D030342 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000009 biolink:NamedThing inherited bleeding disorder, platelet-type phenio_relaxed_subqs.owl MONDO:0000032 biolink:NamedThing febrile seizures, familial phenio_relaxed_subqs.owl MONDO:0000044 biolink:NamedThing hereditary hypophosphatemic rickets Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium. phenio_relaxed_subqs.owl MONDO:0000062 biolink:NamedThing isolated microphthalmia A microphthalmia that is not part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0000079 biolink:NamedThing nephrolithiasis/osteoporosis, hypophosphatemic phenio_relaxed_subqs.owl MONDO:0000104 biolink:NamedThing anemia, hypochromic microcytic with iron overload phenio_relaxed_subqs.owl MONDO:0000111 biolink:NamedThing camptodactyly syndrome, Guadalajara phenio_relaxed_subqs.owl MONDO:0000114 biolink:NamedThing cerebelloparenchymal disorder phenio_relaxed_subqs.owl MONDO:0000115 biolink:NamedThing Chiari malformation A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus. phenio_relaxed_subqs.owl MONDO:0000127 biolink:NamedThing geleophysic dysplasia Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy''). phenio_relaxed_subqs.owl MONDO:0000148 biolink:NamedThing pulmonary fibrosis and/or bone marrow failure, telomere-related phenio_relaxed_subqs.owl MONDO:0000158 biolink:NamedThing developmental dysplasia of the hip A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation. phenio_relaxed_subqs.owl MONDO:0000159 biolink:NamedThing bone marrow failure syndrome phenio_relaxed_subqs.owl MONDO:0000192 biolink:NamedThing polyglucosan body myopathy phenio_relaxed_subqs.owl MONDO:0000200 biolink:NamedThing Zimmermann-Laband syndrome Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet. phenio_relaxed_subqs.owl MONDO:0000213 biolink:NamedThing autoimmune disease, multisystem, infantile-onset phenio_relaxed_subqs.owl MONDO:0000218 biolink:NamedThing preimplantation embryonic lethality phenio_relaxed_subqs.owl MONDO:0000358 biolink:NamedThing orofacial cleft phenio_relaxed_subqs.owl MONDO:0000389 biolink:NamedThing atelosteogenesis phenio_relaxed_subqs.owl MONDO:0000429 biolink:NamedThing autosomal genetic disease A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes. phenio_relaxed_subqs.owl MONDO:0000453 biolink:NamedThing short QT syndrome A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified phenio_relaxed_subqs.owl MONDO:0000608 biolink:NamedThing familial juvenile hyperuricemic nephropathy phenio_relaxed_subqs.owl MONDO:0000733 biolink:NamedThing cornea plana phenio_relaxed_subqs.owl MONDO:0000764 biolink:NamedThing epithelial-stromal TGFBI dystrophy Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene. phenio_relaxed_subqs.owl MONDO:0000816 biolink:NamedThing abdominal obesity-metabolic syndrome phenio_relaxed_subqs.owl MONDO:0000824 biolink:NamedThing congenital diarrhea phenio_relaxed_subqs.owl MONDO:0001029 biolink:NamedThing Klippel-Feil syndrome A congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy. phenio_relaxed_subqs.owl MONDO:0001115 biolink:NamedThing familial polycythemia Polycythemia that occurs in groups of related individuals. phenio_relaxed_subqs.owl MONDO:0001384 biolink:NamedThing myopia The condition in which the individual does not see far distances clearly. phenio_relaxed_subqs.owl MONDO:0001713 biolink:NamedThing inherited aplastic anemia An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia. phenio_relaxed_subqs.owl MONDO:0002010 biolink:NamedThing FG syndrome FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential. phenio_relaxed_subqs.owl MONDO:0002070 biolink:NamedThing ventricular septal defect The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired. phenio_relaxed_subqs.owl MONDO:0002350 biolink:NamedThing familial nephrotic syndrome An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0002474 biolink:NamedThing primary hyperoxaluria A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria. phenio_relaxed_subqs.owl MONDO:0003008 biolink:NamedThing hereditary renal cell carcinoma An instance of renal cell carcinoma (disease) that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0003037 biolink:NamedThing hypotrichosis A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body. phenio_relaxed_subqs.owl MONDO:0003321 biolink:NamedThing hereditary Wilms tumor Familial embryonal neoplasm derived from nephrogenic blastemal cells. Several lines of differentiation, including blastemal, stromal and epithelial, are usually expressed. Comprises approximately 1% of Wilms tumors. (AFIP fascicle version 2.0) phenio_relaxed_subqs.owl MONDO:0003689 biolink:NamedThing familial hemolytic anemia A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies. phenio_relaxed_subqs.owl MONDO:0003824 biolink:NamedThing hereditary kidney oncocytoma An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal. This condition may be connected to Birt-Hogg-Dube syndrome. phenio_relaxed_subqs.owl MONDO:0004166 biolink:NamedThing hereditary fallopian tube carcinoma Fallopian tube carcinoma that has developed in relatives of patients that have a history of fallopian tube carcinoma. phenio_relaxed_subqs.owl MONDO:0004573 biolink:NamedThing ariboflavinosis A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed) phenio_relaxed_subqs.owl MONDO:0004822 biolink:NamedThing bronchiectasis Segmental, irreversible dilation of the bronchial tree resulting in the accumulation of secretions which leads to obstruction. The most common cause is bacterial infection. phenio_relaxed_subqs.owl MONDO:0004914 biolink:NamedThing celiac artery stenosis from compression by median arcuate ligament of diaphragm A syndromic disease that involves the median arcuate ligament. phenio_relaxed_subqs.owl MONDO:0004933 biolink:NamedThing hypoplastic left heart syndrome Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis. phenio_relaxed_subqs.owl MONDO:0005129 biolink:NamedThing cataract Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.) phenio_relaxed_subqs.owl MONDO:0005130 biolink:NamedThing celiac disease An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet. phenio_relaxed_subqs.owl MONDO:0005217 biolink:NamedThing familial cardiomyopathy An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0005265 biolink:NamedThing inflammatory bowel disease A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. phenio_relaxed_subqs.owl MONDO:0005321 biolink:NamedThing Fuchs' endothelial dystrophy Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity. phenio_relaxed_subqs.owl MONDO:0005334 biolink:NamedThing hereditary nephritis A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane. phenio_relaxed_subqs.owl MONDO:0005345 biolink:NamedThing hypospadias Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce. phenio_relaxed_subqs.owl MONDO:0005363 biolink:NamedThing focal segmental glomerulosclerosis A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure. phenio_relaxed_subqs.owl MONDO:0005382 biolink:NamedThing bone Paget disease A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed by the replacement of normal bone marrow with vascular and fibrous tissue. phenio_relaxed_subqs.owl MONDO:0005445 biolink:NamedThing visceral leishmaniasis A severe form of leishmaniasis characterized by irregular bouts of fever, substantial weight loss, swelling of the spleen and liver, and anaemia (which may be serious). If left untreated it may lead to death. Two species of Leishmania are known to give rise to the visceral form of the disease. The species commonly found in East Africa and the Indian subcontinent is L. donovani and the species found in Europe, North Africa, and Latin America is L. infantum, also known as L. chagasi. phenio_relaxed_subqs.owl MONDO:0005486 biolink:NamedThing tooth agenesis A rare developmental dental anomaly in humans characterized by the absence of six or more teeth. phenio_relaxed_subqs.owl MONDO:0006248 biolink:NamedThing hydatidiform mole A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes. phenio_relaxed_subqs.owl MONDO:0006664 biolink:NamedThing atrial septal defect Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart. phenio_relaxed_subqs.owl MONDO:0006761 biolink:NamedThing fibromuscular dysplasia A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation. phenio_relaxed_subqs.owl MONDO:0007031 biolink:NamedThing familial abdominal aortic aneurysm An instance of abdominal aortic aneurysm that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0007032 biolink:NamedThing prune belly syndrome Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes. phenio_relaxed_subqs.owl MONDO:0007036 biolink:NamedThing Achard syndrome A rare genetic syndrome featuring connective tissue abnormalities. Clinical signs include brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet. phenio_relaxed_subqs.owl MONDO:0007037 biolink:NamedThing achondroplasia Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia. phenio_relaxed_subqs.owl MONDO:0007038 biolink:NamedThing Achoo syndrome phenio_relaxed_subqs.owl MONDO:0007049 biolink:NamedThing acroleukopathy, symmetric phenio_relaxed_subqs.owl MONDO:0007050 biolink:NamedThing acromegaloid changes, cutis verticis gyrata, and corneal leukoma phenio_relaxed_subqs.owl MONDO:0007054 biolink:NamedThing acromial dimples phenio_relaxed_subqs.owl MONDO:0007055 biolink:NamedThing acromicric dysplasia Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands. phenio_relaxed_subqs.owl MONDO:0007066 biolink:NamedThing adenosine triphosphatase deficiency, anemia due to phenio_relaxed_subqs.owl MONDO:0007090 biolink:NamedThing amastia, bilateral, with ureteral triplication and dysmorphism phenio_relaxed_subqs.owl MONDO:0007091 biolink:NamedThing amelia and terminal transverse hemimelia phenio_relaxed_subqs.owl MONDO:0007096 biolink:NamedThing amenorrhea-galactorrhea syndrome phenio_relaxed_subqs.owl MONDO:0007102 biolink:NamedThing amyotrophic dystonic paraplegia phenio_relaxed_subqs.owl MONDO:0007106 biolink:NamedThing anal sphincter dysplasia phenio_relaxed_subqs.owl MONDO:0007107 biolink:NamedThing anal sphincter myopathy, internal phenio_relaxed_subqs.owl MONDO:0007119 biolink:NamedThing isolated aniridia Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris. phenio_relaxed_subqs.owl MONDO:0007121 biolink:NamedThing aniridia, microcornea, and spontaneously Reabsorbed cataract phenio_relaxed_subqs.owl MONDO:0007122 biolink:NamedThing anisocoria Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (iris diseases) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease. phenio_relaxed_subqs.owl MONDO:0007125 biolink:NamedThing ankyloglossia A developmental abnormality in which the bottom of the tongue is attached to the floor of the mouth. phenio_relaxed_subqs.owl MONDO:0007128 biolink:NamedThing annular erythema phenio_relaxed_subqs.owl MONDO:0007132 biolink:NamedThing anonychia-ectrodactyly phenio_relaxed_subqs.owl MONDO:0007133 biolink:NamedThing anonychia-onychodystrophy with brachydactyly type b and ectrodactyly phenio_relaxed_subqs.owl MONDO:0007144 biolink:NamedThing aortic arch interruption, facial palsy, and retinal coloboma phenio_relaxed_subqs.owl MONDO:0007151 biolink:NamedThing arms, malformation of phenio_relaxed_subqs.owl MONDO:0007153 biolink:NamedThing arteries, anomalies of phenio_relaxed_subqs.owl MONDO:0007155 biolink:NamedThing arteritis, familial granulomatous, with juvenile polyarthritis phenio_relaxed_subqs.owl MONDO:0007156 biolink:NamedThing arthritis, sacroiliac phenio_relaxed_subqs.owl MONDO:0007162 biolink:NamedThing asymmetric short stature syndrome phenio_relaxed_subqs.owl MONDO:0007175 biolink:NamedThing PR interval, variation 1N phenio_relaxed_subqs.owl MONDO:0007178 biolink:NamedThing aurocephalosyndactyly phenio_relaxed_subqs.owl MONDO:0007180 biolink:NamedThing Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities phenio_relaxed_subqs.owl MONDO:0007183 biolink:NamedThing azotemia, familial phenio_relaxed_subqs.owl MONDO:0007192 biolink:NamedThing beta-amino acids, renal transport of phenio_relaxed_subqs.owl MONDO:0007197 biolink:NamedThing bladder diverticulum phenio_relaxed_subqs.owl MONDO:0007199 biolink:NamedThing blepharochalasis, superior phenio_relaxed_subqs.owl MONDO:0007206 biolink:NamedThing bone pain, periodic phenio_relaxed_subqs.owl MONDO:0007208 biolink:NamedThing Boomerang dysplasia Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing. phenio_relaxed_subqs.owl MONDO:0007210 biolink:NamedThing Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay phenio_relaxed_subqs.owl MONDO:0007228 biolink:NamedThing brachymesomelia-renal syndrome phenio_relaxed_subqs.owl MONDO:0007229 biolink:NamedThing Brachymetatarsus 4 phenio_relaxed_subqs.owl MONDO:0007234 biolink:NamedThing branchial myoclonus with spastic paraparesis and cerebellar ataxia phenio_relaxed_subqs.owl MONDO:0007237 biolink:NamedThing familial juvenile hypertrophy of the breast Familial juvenile hypertrophy of the breast is a rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal. phenio_relaxed_subqs.owl MONDO:0007241 biolink:NamedThing bundle branch block, familial isolated complete right phenio_relaxed_subqs.owl MONDO:0007242 biolink:NamedThing butyrylesterase 1 phenio_relaxed_subqs.owl MONDO:0007243 biolink:NamedThing Burkitt lymphoma Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma. phenio_relaxed_subqs.owl MONDO:0007244 biolink:NamedThing Caffey disease Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described. phenio_relaxed_subqs.owl MONDO:0007246 biolink:NamedThing calcific aortic disease with immunologic abnormalities, familial phenio_relaxed_subqs.owl MONDO:0007253 biolink:NamedThing cancer, familial, with in vitro Radioresistance phenio_relaxed_subqs.owl MONDO:0007258 biolink:NamedThing canine teeth, absence of upper permanent phenio_relaxed_subqs.owl MONDO:0007260 biolink:NamedThing Car factor deficiency phenio_relaxed_subqs.owl MONDO:0007261 biolink:NamedThing Carabelli anomaly of maxillary molar teeth phenio_relaxed_subqs.owl MONDO:0007274 biolink:NamedThing carpal displacement phenio_relaxed_subqs.owl MONDO:0007276 biolink:NamedThing cat-eye syndrome Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal. phenio_relaxed_subqs.owl MONDO:0007302 biolink:NamedThing cervical hypertrichosis with underlying kyphoscoliosis phenio_relaxed_subqs.owl MONDO:0007303 biolink:NamedThing cervical rib disease A rib that is attached to a cervical vertebra or enlarged transverse processes. phenio_relaxed_subqs.owl MONDO:0007304 biolink:NamedThing cervical vertebral Bridge phenio_relaxed_subqs.owl MONDO:0007305 biolink:NamedThing cervical vertebral dysplasia phenio_relaxed_subqs.owl MONDO:0007314 biolink:NamedThing chemodectoma, intraabdominal, with cutaneous angiolipomas phenio_relaxed_subqs.owl MONDO:0007323 biolink:NamedThing Chondronectin phenio_relaxed_subqs.owl MONDO:0007328 biolink:NamedThing choroidal osteoma, bilateral phenio_relaxed_subqs.owl MONDO:0007329 biolink:NamedThing cirrhosis, familial Cirrhosis in which no causative agent can be identified. phenio_relaxed_subqs.owl MONDO:0007357 biolink:NamedThing colonic varices without portal hypertension phenio_relaxed_subqs.owl MONDO:0007358 biolink:NamedThing comedones, familial Dyskeratotic phenio_relaxed_subqs.owl MONDO:0007359 biolink:NamedThing commissural lip pits phenio_relaxed_subqs.owl MONDO:0007370 biolink:NamedThing coracoclavicular joint, anomalous phenio_relaxed_subqs.owl MONDO:0007371 biolink:NamedThing cornea guttata with anterior polar cataracts phenio_relaxed_subqs.owl MONDO:0007373 biolink:NamedThing corneal degeneration, ribbonlike, with deafness phenio_relaxed_subqs.owl MONDO:0007374 biolink:NamedThing Schnyder corneal dystrophy Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity. phenio_relaxed_subqs.owl MONDO:0007376 biolink:NamedThing fleck corneal dystrophy Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity. phenio_relaxed_subqs.owl MONDO:0007379 biolink:NamedThing Meesmann corneal dystrophy Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision. phenio_relaxed_subqs.owl MONDO:0007381 biolink:NamedThing epithelial recurrent erosion dystrophy Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision. phenio_relaxed_subqs.owl MONDO:0007390 biolink:NamedThing coumarin resistance phenio_relaxed_subqs.owl MONDO:0007391 biolink:NamedThing coxa vara Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental. phenio_relaxed_subqs.owl MONDO:0007393 biolink:NamedThing cranioacrofacial syndrome phenio_relaxed_subqs.owl MONDO:0007402 biolink:NamedThing creatine phosphokinase, elevated serum phenio_relaxed_subqs.owl MONDO:0007406 biolink:NamedThing cryofibrinogenemia, familial primary phenio_relaxed_subqs.owl MONDO:0007408 biolink:NamedThing cryptotia, familial phenio_relaxed_subqs.owl MONDO:0007418 biolink:NamedThing Darwinian tubercle of pinna phenio_relaxed_subqs.owl MONDO:0007423 biolink:NamedThing deafness, mid-tone neural phenio_relaxed_subqs.owl MONDO:0007425 biolink:NamedThing deafness, sensorineural, with peripheral neuropathy and arterial disease phenio_relaxed_subqs.owl MONDO:0007426 biolink:NamedThing deafness, unilateral phenio_relaxed_subqs.owl MONDO:0007427 biolink:NamedThing deafness with anhidrotic ectodermal dysplasia phenio_relaxed_subqs.owl MONDO:0007430 biolink:NamedThing dens evaginatus phenio_relaxed_subqs.owl MONDO:0007431 biolink:NamedThing dens in dente and palatal invaginations phenio_relaxed_subqs.owl MONDO:0007433 biolink:NamedThing dementia/parkinsonism with non-Alzheimer amyloid plaques phenio_relaxed_subqs.owl MONDO:0007434 biolink:NamedThing primary failure of tooth eruption phenio_relaxed_subqs.owl MONDO:0007436 biolink:NamedThing dentin dysplasia type I Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth. phenio_relaxed_subqs.owl MONDO:0007437 biolink:NamedThing dentin dysplasia type II Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD) characterized by normal tooth roots but abnormal primary dentition. phenio_relaxed_subqs.owl MONDO:0007438 biolink:NamedThing dentin dysplasia-sclerotic bones syndrome Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977. phenio_relaxed_subqs.owl MONDO:0007439 biolink:NamedThing deoxyribose-5-phosphate aldolase deficiency phenio_relaxed_subqs.owl MONDO:0007444 biolink:NamedThing dermal Ridges, patternless phenio_relaxed_subqs.owl MONDO:0007456 biolink:NamedThing diarrhea, glucose-stimulated secretory, with common variable immunodeficiency phenio_relaxed_subqs.owl MONDO:0007457 biolink:NamedThing diastema, dental medial phenio_relaxed_subqs.owl MONDO:0007459 biolink:NamedThing dilution, pigmentary phenio_relaxed_subqs.owl MONDO:0007460 biolink:NamedThing discrimination, Two-point, reduction 1N phenio_relaxed_subqs.owl MONDO:0007463 biolink:NamedThing distal osteosclerosis phenio_relaxed_subqs.owl MONDO:0007465 biolink:NamedThing distichiasis with congenital anomalies of the heart and peripheral vasculature phenio_relaxed_subqs.owl MONDO:0007466 biolink:NamedThing DNA, satellite, 3 phenio_relaxed_subqs.owl MONDO:0007467 biolink:NamedThing DNA, low-repetitive sequences of phenio_relaxed_subqs.owl MONDO:0007469 biolink:NamedThing double nail for fifth toe phenio_relaxed_subqs.owl MONDO:0007474 biolink:NamedThing duodenal ulcer due to antral G-cell hyperfunction phenio_relaxed_subqs.owl MONDO:0007475 biolink:NamedThing duodenal ulcer, hyperpepsinogenemic 1 phenio_relaxed_subqs.owl MONDO:0007479 biolink:NamedThing dwarfism, Levi type phenio_relaxed_subqs.owl MONDO:0007480 biolink:NamedThing dwarfism with stiff joints and ocular abnormalities phenio_relaxed_subqs.owl MONDO:0007491 biolink:NamedThing dystelephalangy phenio_relaxed_subqs.owl MONDO:0007497 biolink:NamedThing ear antitragus, tag at base of phenio_relaxed_subqs.owl MONDO:0007498 biolink:NamedThing ear exostoses phenio_relaxed_subqs.owl MONDO:0007499 biolink:NamedThing ear folding phenio_relaxed_subqs.owl MONDO:0007500 biolink:NamedThing ear malformation phenio_relaxed_subqs.owl MONDO:0007501 biolink:NamedThing preauricular fistulae, congenital phenio_relaxed_subqs.owl MONDO:0007502 biolink:NamedThing ear pits, posterior helical phenio_relaxed_subqs.owl MONDO:0007505 biolink:NamedThing earring holes, natural phenio_relaxed_subqs.owl MONDO:0007512 biolink:NamedThing ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet phenio_relaxed_subqs.owl MONDO:0007513 biolink:NamedThing ectodermal dysplasia with adrenal cyst phenio_relaxed_subqs.owl MONDO:0007514 biolink:NamedThing ectopia lentis 1, isolated, autosomal dominant Any isolated ectopia lentis in which the cause of the disease is a mutation in the FBN1 gene. phenio_relaxed_subqs.owl MONDO:0007515 biolink:NamedThing ectopia pupillae phenio_relaxed_subqs.owl MONDO:0007516 biolink:NamedThing ectrodactyly and ectodermal dysplasia without cleft lip/palate phenio_relaxed_subqs.owl MONDO:0007517 biolink:NamedThing ectrodactyly-cleft palate syndrome phenio_relaxed_subqs.owl MONDO:0007518 biolink:NamedThing edema, familial idiopathic, prepubertal phenio_relaxed_subqs.owl MONDO:0007530 biolink:NamedThing electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon phenio_relaxed_subqs.owl MONDO:0007531 biolink:NamedThing electroencephalographic peculiarity: fronto-precentral beta wave groups phenio_relaxed_subqs.owl MONDO:0007535 biolink:NamedThing emphysema, hereditary pulmonary phenio_relaxed_subqs.owl MONDO:0007543 biolink:NamedThing enolase, sperm specific phenio_relaxed_subqs.owl MONDO:0007544 biolink:NamedThing eosinophilia, familial Familial occurrence, with more than one generation being affected, of persistent eosinophilia, an increase in the number of eosinophils in the blood, in the absence of known causal factors. phenio_relaxed_subqs.owl MONDO:0007545 biolink:NamedThing Eosinophilopenia phenio_relaxed_subqs.owl MONDO:0007547 biolink:NamedThing epidermoid cysts The most common type of cutaneous cyst. It results from the proliferation of epidermal cells in a circumscribed space within the dermis. It is usually asymptomatic and presents as a firm, round nodule. phenio_relaxed_subqs.owl MONDO:0007553 biolink:NamedThing epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase phenio_relaxed_subqs.owl MONDO:0007557 biolink:NamedThing epidermolysis bullosa with congenital localized absence of skin and deformity of nails phenio_relaxed_subqs.owl MONDO:0007569 biolink:NamedThing erythema nodosum, familial phenio_relaxed_subqs.owl MONDO:0007577 biolink:NamedThing esophageal ring, lower phenio_relaxed_subqs.owl MONDO:0007578 biolink:NamedThing esterase B phenio_relaxed_subqs.owl MONDO:0007579 biolink:NamedThing esterase C phenio_relaxed_subqs.owl MONDO:0007580 biolink:NamedThing esterase ES-2, regulator for phenio_relaxed_subqs.owl MONDO:0007581 biolink:NamedThing exchondrosis of pinna, posterior phenio_relaxed_subqs.owl MONDO:0007583 biolink:NamedThing exostoses of heel phenio_relaxed_subqs.owl MONDO:0007584 biolink:NamedThing exostoses-anetodermia-brachydactyly type E syndrome Exostoses-anetodermia-brachydactyly type E syndrome is an association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985. phenio_relaxed_subqs.owl MONDO:0007593 biolink:NamedThing facial spasm phenio_relaxed_subqs.owl MONDO:0007597 biolink:NamedThing factor VIII and Factor IX, combined deficiency of phenio_relaxed_subqs.owl MONDO:0007598 biolink:NamedThing factors VIII, IX and XI, combined deficiency of phenio_relaxed_subqs.owl MONDO:0007599 biolink:NamedThing factor 9 and Factor XI, combined deficiency of phenio_relaxed_subqs.owl MONDO:0007605 biolink:NamedThing fibrinolytic defect phenio_relaxed_subqs.owl MONDO:0007615 biolink:NamedThing laurin-Sandrow syndrome Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested. phenio_relaxed_subqs.owl MONDO:0007616 biolink:NamedThing fibula, recurrent dislocation of head of phenio_relaxed_subqs.owl MONDO:0007623 biolink:NamedThing flushing of ears and somnolence phenio_relaxed_subqs.owl MONDO:0007625 biolink:NamedThing focal epithelial hyperplasia of the oral mucosa phenio_relaxed_subqs.owl MONDO:0007629 biolink:NamedThing fragile site 10Q23 phenio_relaxed_subqs.owl MONDO:0007633 biolink:NamedThing Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness phenio_relaxed_subqs.owl MONDO:0007634 biolink:NamedThing intellectual disability, FRA12A type phenio_relaxed_subqs.owl MONDO:0007638 biolink:NamedThing fucosidase regulator phenio_relaxed_subqs.owl MONDO:0007643 biolink:NamedThing gamma-A-globulin, defect in assembly of phenio_relaxed_subqs.owl MONDO:0007647 biolink:NamedThing gastric volvulus, intrathoracic phenio_relaxed_subqs.owl MONDO:0007649 biolink:NamedThing gastric juice peptides phenio_relaxed_subqs.owl MONDO:0007650 biolink:NamedThing MALT lymphoma An indolent, extranodal type of non-Hodgkin lymphoma composed of small B-lymphocytes (centrocyte-like cells). The gastrointestinal tract is the most common site of involvement. Other common sites of involvement include lung, head and neck, ocular adnexae, skin, thyroid, and breast. Gastric involvement is associated with the presence of H. pylori infection. (WHO, 2001) phenio_relaxed_subqs.owl MONDO:0007653 biolink:NamedThing genochondromatosis phenio_relaxed_subqs.owl MONDO:0007654 biolink:NamedThing genu valgum, st. Helena familial phenio_relaxed_subqs.owl MONDO:0007657 biolink:NamedThing giant neutrophil leukocytes phenio_relaxed_subqs.owl MONDO:0007668 biolink:NamedThing globulin anomaly involving beta (2A)-globulin phenio_relaxed_subqs.owl MONDO:0007671 biolink:NamedThing fibronectin glomerulopathy Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life. phenio_relaxed_subqs.owl MONDO:0007673 biolink:NamedThing Glucoglycinuria phenio_relaxed_subqs.owl MONDO:0007674 biolink:NamedThing glucose-6-phosphate dehydrogenase-like phenio_relaxed_subqs.owl MONDO:0007675 biolink:NamedThing glutamic acid decarboxylase, brain, membrane form phenio_relaxed_subqs.owl MONDO:0007676 biolink:NamedThing glutathione transferase activity toward trans-stilbene oxide phenio_relaxed_subqs.owl MONDO:0007677 biolink:NamedThing hyperglycinuria phenio_relaxed_subqs.owl MONDO:0007682 biolink:NamedThing granddad syndrome phenio_relaxed_subqs.owl MONDO:0007683 biolink:NamedThing Grant syndrome Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986. phenio_relaxed_subqs.owl MONDO:0007685 biolink:NamedThing granulosis rubra nasi phenio_relaxed_subqs.owl MONDO:0007687 biolink:NamedThing graying of hair, precocious phenio_relaxed_subqs.owl MONDO:0007689 biolink:NamedThing guanylate kinase 3 phenio_relaxed_subqs.owl MONDO:0007694 biolink:NamedThing hairy nose tip phenio_relaxed_subqs.owl MONDO:0007695 biolink:NamedThing hairy palms and soles phenio_relaxed_subqs.owl MONDO:0007697 biolink:NamedThing hand clasping pattern phenio_relaxed_subqs.owl MONDO:0007699 biolink:NamedThing Hashimoto thyroiditis An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism. phenio_relaxed_subqs.owl MONDO:0007706 biolink:NamedThing cavernous hemangiomas of face-supraumbilical midline raphe syndrome phenio_relaxed_subqs.owl MONDO:0007708 biolink:NamedThing Kasabach-Merritt syndrome Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma. phenio_relaxed_subqs.owl MONDO:0007709 biolink:NamedThing hematuria, benign familial phenio_relaxed_subqs.owl MONDO:0007715 biolink:NamedThing hemolytic poikilocytic anemia due to reduced ankyrin binding sites phenio_relaxed_subqs.owl MONDO:0007717 biolink:NamedThing hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain phenio_relaxed_subqs.owl MONDO:0007718 biolink:NamedThing hepatic adenomas, familial phenio_relaxed_subqs.owl MONDO:0007720 biolink:NamedThing hernia, double inguinal phenio_relaxed_subqs.owl MONDO:0007722 biolink:NamedThing heterochromia iridis phenio_relaxed_subqs.owl MONDO:0007726 biolink:NamedThing hip dysplasia, Beukes type Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing. phenio_relaxed_subqs.owl MONDO:0007730 biolink:NamedThing histiocytic dermatoarthritis phenio_relaxed_subqs.owl MONDO:0007736 biolink:NamedThing HPA 1 Recognition polymorphism, beta-globin-related phenio_relaxed_subqs.owl MONDO:0007742 biolink:NamedThing 5-hydroxytryptamine oxygenase regulator phenio_relaxed_subqs.owl MONDO:0007746 biolink:NamedThing orthostatic hypotensive disorder, Streeten type phenio_relaxed_subqs.owl MONDO:0007752 biolink:NamedThing hyperheparinemia phenio_relaxed_subqs.owl MONDO:0007754 biolink:NamedThing hyperhidrosis palmaris ET plantaris phenio_relaxed_subqs.owl MONDO:0007755 biolink:NamedThing hyperimmunoglobulin G1(A1) syndrome phenio_relaxed_subqs.owl MONDO:0007760 biolink:NamedThing hyperlipoproteinemia, type II, and deafness phenio_relaxed_subqs.owl MONDO:0007764 biolink:NamedThing autosomal dominant osteosclerosis, Worth type Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture. phenio_relaxed_subqs.owl MONDO:0007769 biolink:NamedThing hyperpigmentation of eyelid Over-production of pigment in the eyelid. phenio_relaxed_subqs.owl MONDO:0007770 biolink:NamedThing hyperpigmentation of Fuldauer and Kuijpers phenio_relaxed_subqs.owl MONDO:0007773 biolink:NamedThing hyperproglucagonemia phenio_relaxed_subqs.owl MONDO:0007774 biolink:NamedThing hyperreflexia An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes. phenio_relaxed_subqs.owl MONDO:0007775 biolink:NamedThing hypersecretion of adrenal androgens, familial phenio_relaxed_subqs.owl MONDO:0007776 biolink:NamedThing hypersensitivity pneumonitis, familial An instance of hypersensitivity pneumonitis that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0007777 biolink:NamedThing hypertaurinuric cardiomyopathy phenio_relaxed_subqs.owl MONDO:0007782 biolink:NamedThing hyperthermia, cutaneous, with headaches and nausea phenio_relaxed_subqs.owl MONDO:0007785 biolink:NamedThing hyperthyroxinemia, dystransthyretinemic phenio_relaxed_subqs.owl MONDO:0007789 biolink:NamedThing hypertrophia musculorum vera phenio_relaxed_subqs.owl MONDO:0007793 biolink:NamedThing hypochondroplasia Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints. phenio_relaxed_subqs.owl MONDO:0007799 biolink:NamedThing hypophosphatemic bone disease phenio_relaxed_subqs.owl MONDO:0007807 biolink:NamedThing hypoxanthine guanine phosphoribosyltransferase suppressor phenio_relaxed_subqs.owl MONDO:0007816 biolink:NamedThing immune suppression phenio_relaxed_subqs.owl MONDO:0007820 biolink:NamedThing fused mandibular incisors Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia and an increased risk of pulp exposure. phenio_relaxed_subqs.owl MONDO:0007824 biolink:NamedThing incisors, lower central, absence of phenio_relaxed_subqs.owl MONDO:0007825 biolink:NamedThing incisors, rotation of upper central phenio_relaxed_subqs.owl MONDO:0007826 biolink:NamedThing incisors, shovel-shaped phenio_relaxed_subqs.owl MONDO:0007828 biolink:NamedThing indifference to pain, congenital, autosomal dominant phenio_relaxed_subqs.owl MONDO:0007830 biolink:NamedThing insensitivity to pain with hyperplastic Myelinopathy phenio_relaxed_subqs.owl MONDO:0007831 biolink:NamedThing insect Stings, hypersensitivity to phenio_relaxed_subqs.owl MONDO:0007832 biolink:NamedThing interferon antiviral depressor phenio_relaxed_subqs.owl MONDO:0007833 biolink:NamedThing iris pigment layer, cleavage of phenio_relaxed_subqs.owl MONDO:0007834 biolink:NamedThing islet cell adenomatosis A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia. phenio_relaxed_subqs.owl MONDO:0007835 biolink:NamedThing intussusception Telescoping or invagination of a part of the intestine into an adjacent segment. phenio_relaxed_subqs.owl MONDO:0007840 biolink:NamedThing internal carotid artery, spontaneous dissection of phenio_relaxed_subqs.owl MONDO:0007847 biolink:NamedThing keloid formation phenio_relaxed_subqs.owl MONDO:0007849 biolink:NamedThing keratitis fugax hereditaria phenio_relaxed_subqs.owl MONDO:0007855 biolink:NamedThing keratosis, familial actinic phenio_relaxed_subqs.owl MONDO:0007865 biolink:NamedThing knuckle pads phenio_relaxed_subqs.owl MONDO:0007869 biolink:NamedThing Kyrle disease Kyrle disease is rare condition that affects the skin. People with this condition generally develop large papules with central keratin (a protein found in the skin, hair and nails) plugs throughout their body. These lesions are typically not painful but may cause severe itching. Although it can affect both men and women throughout life, the average age of onset is 30 years. The cause of the disease is currently unknown; however, it is often associated with certain conditions such as diabetes mellitus, kidney disease, liver abnormalities, and congestive heart failure. In some families, the condition appears to be inherited but an underlying genetic cause has not been identified. Treatment aims to address the associated signs and symptoms and any additional disease that may be present. Lesions often heal spontaneously but new ones continue to develop. phenio_relaxed_subqs.owl MONDO:0007870 biolink:NamedThing labia minora, incomplete adhesion of phenio_relaxed_subqs.owl MONDO:0007873 biolink:NamedThing lactic acidosis, chronic adult form phenio_relaxed_subqs.owl MONDO:0007877 biolink:NamedThing laryngeal adductor paralysis phenio_relaxed_subqs.owl MONDO:0007882 biolink:NamedThing lattice degeneration of retina leading to retinal detachment phenio_relaxed_subqs.owl MONDO:0007883 biolink:NamedThing periodic fever, immunodeficiency, and thrombocytopenia syndrome phenio_relaxed_subqs.owl MONDO:0007884 biolink:NamedThing leg ulcers, familial, of juvenile onset phenio_relaxed_subqs.owl MONDO:0007890 biolink:NamedThing lentiginosis, centrofacial neurodysraphic phenio_relaxed_subqs.owl MONDO:0007898 biolink:NamedThing leukocyte nuclear appendages, hereditary prevalence of phenio_relaxed_subqs.owl MONDO:0007901 biolink:NamedThing levator-medial rectus synkinesis phenio_relaxed_subqs.owl MONDO:0007905 biolink:NamedThing lip, hamartomatous phenio_relaxed_subqs.owl MONDO:0007910 biolink:NamedThing lipoprotein types--Lt system phenio_relaxed_subqs.owl MONDO:0007911 biolink:NamedThing lipoprotein, variant of beta phenio_relaxed_subqs.owl MONDO:0007912 biolink:NamedThing lithium transport phenio_relaxed_subqs.owl MONDO:0007913 biolink:NamedThing low density lipoprotein, variation in molecular weight of phenio_relaxed_subqs.owl MONDO:0007914 biolink:NamedThing lumbar stenosis, familial phenio_relaxed_subqs.owl MONDO:0007923 biolink:NamedThing macrocephaly, benign familial phenio_relaxed_subqs.owl MONDO:0007941 biolink:NamedThing malocclusion due to protuberant upper front teeth phenio_relaxed_subqs.owl MONDO:0007942 biolink:NamedThing Mammastatin phenio_relaxed_subqs.owl MONDO:0007945 biolink:NamedThing mannose 6-phosphate receptor recognition defect, Lebanese type phenio_relaxed_subqs.owl MONDO:0007948 biolink:NamedThing marfanoid hypermobility syndrome phenio_relaxed_subqs.owl MONDO:0007950 biolink:NamedThing mastocytosis A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival. phenio_relaxed_subqs.owl MONDO:0007951 biolink:NamedThing masticatory muscles, hypertrophy of phenio_relaxed_subqs.owl MONDO:0007952 biolink:NamedThing maxillofacial dysostosis phenio_relaxed_subqs.owl MONDO:0007955 biolink:NamedThing Meckel diverticulum A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction. phenio_relaxed_subqs.owl MONDO:0007957 biolink:NamedThing mediosternal depigmentation line phenio_relaxed_subqs.owl MONDO:0007962 biolink:NamedThing Megalodactyly A condition in which a finger or toe is larger than normal size secondary to excessive growth of the anatomical structures or abnormal accumulation of substances. phenio_relaxed_subqs.owl MONDO:0007968 biolink:NamedThing melanoma tumor antigen Gp90 phenio_relaxed_subqs.owl MONDO:0007973 biolink:NamedThing mental and growth retardation with amblyopia phenio_relaxed_subqs.owl MONDO:0007976 biolink:NamedThing mesomelic dwarfism of hypoplastic tibia and radius type phenio_relaxed_subqs.owl MONDO:0007979 biolink:NamedThing metachondromatosis Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions. phenio_relaxed_subqs.owl MONDO:0007980 biolink:NamedThing metachromasia of fibroblasts phenio_relaxed_subqs.owl MONDO:0007982 biolink:NamedThing metaphyseal chondrodysplasia, Jansen type Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia. phenio_relaxed_subqs.owl MONDO:0007983 biolink:NamedThing Schmid metaphyseal chondrodysplasia Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait. phenio_relaxed_subqs.owl MONDO:0007984 biolink:NamedThing metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait. phenio_relaxed_subqs.owl MONDO:0007985 biolink:NamedThing metatarsus varus, type 1 phenio_relaxed_subqs.owl MONDO:0007986 biolink:NamedThing metatropic dysplasia Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood. phenio_relaxed_subqs.owl MONDO:0007996 biolink:NamedThing microphthalmia, isolated, with corectopia phenio_relaxed_subqs.owl MONDO:0007997 biolink:NamedThing microspherophakia with hernia phenio_relaxed_subqs.owl MONDO:0007998 biolink:NamedThing microspherophakia-metaphyseal dysplasia syndrome Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. phenio_relaxed_subqs.owl MONDO:0008001 biolink:NamedThing milia, multiple eruptive phenio_relaxed_subqs.owl MONDO:0008007 biolink:NamedThing tooth ankylosis Dental ankylosis is a rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement. phenio_relaxed_subqs.owl MONDO:0008010 biolink:NamedThing antigen defined by monoclonal antibody Aj9 phenio_relaxed_subqs.owl MONDO:0008011 biolink:NamedThing antigen defined by monoclonal antibody T87 phenio_relaxed_subqs.owl MONDO:0008012 biolink:NamedThing Monophalangy of great toe phenio_relaxed_subqs.owl MONDO:0008014 biolink:NamedThing nondisjunction phenio_relaxed_subqs.owl MONDO:0008019 biolink:NamedThing mullerian aplasia and hyperandrogenism Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina. phenio_relaxed_subqs.owl MONDO:0008020 biolink:NamedThing multiple exostoses with spastic tetraparesis phenio_relaxed_subqs.owl MONDO:0008022 biolink:NamedThing muscle cramps, familial phenio_relaxed_subqs.owl MONDO:0008027 biolink:NamedThing muscular atrophy, malignant neurogenic phenio_relaxed_subqs.owl MONDO:0008035 biolink:NamedThing muscular hypoplasia, congenital universal, of Krabbe phenio_relaxed_subqs.owl MONDO:0008037 biolink:NamedThing myelinated optic nerve fibers phenio_relaxed_subqs.owl MONDO:0008051 biolink:NamedThing tubular aggregate myopathy Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by mutations in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported. phenio_relaxed_subqs.owl MONDO:0008052 biolink:NamedThing myopathy with storage of glycoproteins and Glycosaminoglycans phenio_relaxed_subqs.owl MONDO:0008063 biolink:NamedThing nasal alar collapse, bilateral phenio_relaxed_subqs.owl MONDO:0008064 biolink:NamedThing nasal bones, absence of phenio_relaxed_subqs.owl MONDO:0008065 biolink:NamedThing nasal groove, familial transverse phenio_relaxed_subqs.owl MONDO:0008066 biolink:NamedThing nasal hyperpigmentation, familial transverse phenio_relaxed_subqs.owl MONDO:0008079 biolink:NamedThing neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome phenio_relaxed_subqs.owl MONDO:0008084 biolink:NamedThing neuropathy, congenital, with arthrogryposis multiplex phenio_relaxed_subqs.owl MONDO:0008085 biolink:NamedThing neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance phenio_relaxed_subqs.owl MONDO:0008088 biolink:NamedThing neuropathy, with paraprotein in serum, cerebrospinal fluid and urine phenio_relaxed_subqs.owl MONDO:0008089 biolink:NamedThing neutropenia, chronic familial phenio_relaxed_subqs.owl MONDO:0008092 biolink:NamedThing hereditary neutrophilia A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34. phenio_relaxed_subqs.owl MONDO:0008095 biolink:NamedThing nevus anemicus A capillary vascular anomaly that is characterized by hypopigmented macules. phenio_relaxed_subqs.owl MONDO:0008096 biolink:NamedThing nevus flammeus of nape of neck phenio_relaxed_subqs.owl MONDO:0008100 biolink:NamedThing nipples inverted phenio_relaxed_subqs.owl MONDO:0008101 biolink:NamedThing familial supernumerary nipples Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported. phenio_relaxed_subqs.owl MONDO:0008103 biolink:NamedThing noduli Cutanei, multiple, with urinary tract abnormalities phenio_relaxed_subqs.owl MONDO:0008105 biolink:NamedThing nose, anomalous shape of phenio_relaxed_subqs.owl MONDO:0008121 biolink:NamedThing onychogryposis, pedal, with keratosis plantaris and coarse hair phenio_relaxed_subqs.owl MONDO:0008124 biolink:NamedThing omphalocele, autosomal phenio_relaxed_subqs.owl MONDO:0008127 biolink:NamedThing ophthalmomandibulomelic dysplasia Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. phenio_relaxed_subqs.owl MONDO:0008128 biolink:NamedThing ophthalmoplegia, familial static phenio_relaxed_subqs.owl MONDO:0008129 biolink:NamedThing ophthalmoplegia, familial total, with iris transillumination phenio_relaxed_subqs.owl MONDO:0008136 biolink:NamedThing isolated optic nerve hypoplasia phenio_relaxed_subqs.owl MONDO:0008140 biolink:NamedThing ossified ear cartilages phenio_relaxed_subqs.owl MONDO:0008141 biolink:NamedThing ossicular malformations, familial phenio_relaxed_subqs.owl MONDO:0008150 biolink:NamedThing osteoglophonic dwarfism Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth. phenio_relaxed_subqs.owl MONDO:0008151 biolink:NamedThing gnathodiaphyseal dysplasia Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission. phenio_relaxed_subqs.owl MONDO:0008152 biolink:NamedThing multicentric carpo-tarsal osteolysis with or without nephropathy Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities. phenio_relaxed_subqs.owl MONDO:0008160 biolink:NamedThing osteosclerosis with ichthyosis and fractures phenio_relaxed_subqs.owl MONDO:0008163 biolink:NamedThing otofaciocervical syndrome Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated. phenio_relaxed_subqs.owl MONDO:0008166 biolink:NamedThing ovalocytosis, hereditary hemolytic, with defective erythropoiesis phenio_relaxed_subqs.owl MONDO:0008169 biolink:NamedThing osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension phenio_relaxed_subqs.owl MONDO:0008181 biolink:NamedThing palmaris longus muscle, absence of phenio_relaxed_subqs.owl MONDO:0008186 biolink:NamedThing pancytopenia and occlusive vascular disease phenio_relaxed_subqs.owl MONDO:0008188 biolink:NamedThing papillomatosis, confluent and reticulated phenio_relaxed_subqs.owl MONDO:0008189 biolink:NamedThing papillomatosis, florid, of nipple A rare benign neoplasm that arises in the area of the nipple. Clinically, it usually presents as a tender erythematous crusting lesion with hardening of the nipple. Morphologically, there is proliferation of ducts lined with epithelial and myoepithelial cells and focal erosion of the epidermis. phenio_relaxed_subqs.owl MONDO:0008194 biolink:NamedThing Paramolar tubercle of bolk phenio_relaxed_subqs.owl MONDO:0008196 biolink:NamedThing parastremmatic dwarfism Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs. phenio_relaxed_subqs.owl MONDO:0008198 biolink:NamedThing parietal foramina with cleidocranial dysplasia Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported. phenio_relaxed_subqs.owl MONDO:0008202 biolink:NamedThing Parotidomegaly, hereditary bilateral phenio_relaxed_subqs.owl MONDO:0008203 biolink:NamedThing Passovoy factor defect phenio_relaxed_subqs.owl MONDO:0008208 biolink:NamedThing patella, familial recurrent dislocation of phenio_relaxed_subqs.owl MONDO:0008212 biolink:NamedThing Pechet factor deficiency phenio_relaxed_subqs.owl MONDO:0008213 biolink:NamedThing pectus excavatum A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax. phenio_relaxed_subqs.owl MONDO:0008216 biolink:NamedThing pelvic lipomatosis with crossed renal ectopia phenio_relaxed_subqs.owl MONDO:0008226 biolink:NamedThing periodontitis, aggressive 1 A localized aggressive periodontitis, formerly called localized juvenile periodontitis. It is a destructive form of periodontitis characterized by ALVEOLAR BONE LOSS of the MOLARS and INCISORS. Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people. phenio_relaxed_subqs.owl MONDO:0008229 biolink:NamedThing peroneal nerve, accessory deep phenio_relaxed_subqs.owl MONDO:0008230 biolink:NamedThing peroxidase, salivary phenio_relaxed_subqs.owl MONDO:0008231 biolink:NamedThing Peyronie disease A condition characterized by hardening of the penis due to the formation of fibrous plaques on the dorsolateral aspect of the penis, usually involving the membrane (tunica albuginea) surrounding the erectile tissue (corpus cavernosum penis). This may eventually cause a painful deformity of the shaft or constriction of the urethra, or both. phenio_relaxed_subqs.owl MONDO:0008232 biolink:NamedThing phagocytosis, plasma-related defect 1N phenio_relaxed_subqs.owl MONDO:0008235 biolink:NamedThing pheochromocytoma-islet cell tumor syndrome phenio_relaxed_subqs.owl MONDO:0008236 biolink:NamedThing phlebectasia of lips phenio_relaxed_subqs.owl MONDO:0008238 biolink:NamedThing phosphatase, acid, of tissues phenio_relaxed_subqs.owl MONDO:0008239 biolink:NamedThing phosphoglucomutase 4 phenio_relaxed_subqs.owl MONDO:0008240 biolink:NamedThing 6-phosphogluconolactonase deficiency phenio_relaxed_subqs.owl MONDO:0008241 biolink:NamedThing phosphoglycoprotein 1 phenio_relaxed_subqs.owl MONDO:0008242 biolink:NamedThing photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction phenio_relaxed_subqs.owl MONDO:0008248 biolink:NamedThing pigmented purpuric eruption phenio_relaxed_subqs.owl MONDO:0008249 biolink:NamedThing pilonidal sinus A hair-containing cyst or sinus, occurring chiefly in the coccygeal region. phenio_relaxed_subqs.owl MONDO:0008252 biolink:NamedThing platelet adenylate cyclase activity phenio_relaxed_subqs.owl MONDO:0008253 biolink:NamedThing platelet aggregation, spontaneous phenio_relaxed_subqs.owl MONDO:0008254 biolink:NamedThing platelet disorder, undefined phenio_relaxed_subqs.owl MONDO:0008255 biolink:NamedThing platelet factor 3 deficiency phenio_relaxed_subqs.owl MONDO:0008256 biolink:NamedThing platelet membrane fluidity phenio_relaxed_subqs.owl MONDO:0008257 biolink:NamedThing platelet responsiveness to adrenaline, depressed phenio_relaxed_subqs.owl MONDO:0008258 biolink:NamedThing platelet signal processing defect phenio_relaxed_subqs.owl MONDO:0008259 biolink:NamedThing familial spontaneous pneumothorax Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated. phenio_relaxed_subqs.owl MONDO:0008275 biolink:NamedThing familial expansile osteolysis phenio_relaxed_subqs.owl MONDO:0008281 biolink:NamedThing polyposis, intestinal, scattered and discrete phenio_relaxed_subqs.owl MONDO:0008282 biolink:NamedThing polyposis, intestinal, with multiple exostoses phenio_relaxed_subqs.owl MONDO:0008284 biolink:NamedThing polyposis of gastric fundus without polyposis coli phenio_relaxed_subqs.owl MONDO:0008285 biolink:NamedThing polyps, multiple and recurrent inflammatory fibroid, gastrointestinal phenio_relaxed_subqs.owl MONDO:0008287 biolink:NamedThing Greig cephalopolysyndactyly syndrome Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. phenio_relaxed_subqs.owl MONDO:0008288 biolink:NamedThing popliteal cyst A synovial cyst located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint. phenio_relaxed_subqs.owl MONDO:0008299 biolink:NamedThing posterior column ataxia phenio_relaxed_subqs.owl MONDO:0008301 biolink:NamedThing Guttmacher syndrome Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias. phenio_relaxed_subqs.owl MONDO:0008303 biolink:NamedThing familial male-limited precocious puberty Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height. phenio_relaxed_subqs.owl MONDO:0008304 biolink:NamedThing premature chromatid separation trait phenio_relaxed_subqs.owl MONDO:0008307 biolink:NamedThing presenile dementia, Kraepelin type phenio_relaxed_subqs.owl MONDO:0008308 biolink:NamedThing priapism, familial idiopathic phenio_relaxed_subqs.owl MONDO:0008313 biolink:NamedThing pelvic organ prolapse, susceptibility to phenio_relaxed_subqs.owl MONDO:0008314 biolink:NamedThing pronation-supination of the forearm, impairment of phenio_relaxed_subqs.owl MONDO:0008317 biolink:NamedThing proteolytic capacity of plasma phenio_relaxed_subqs.owl MONDO:0008320 biolink:NamedThing Protrusio acetabuli phenio_relaxed_subqs.owl MONDO:0008321 biolink:NamedThing pruritus, hereditary localized phenio_relaxed_subqs.owl MONDO:0008322 biolink:NamedThing pseudoachondroplasia Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis. phenio_relaxed_subqs.owl MONDO:0008324 biolink:NamedThing pseudoarthrogryposis phenio_relaxed_subqs.owl MONDO:0008325 biolink:NamedThing Pseudoatrophoderma colli phenio_relaxed_subqs.owl MONDO:0008330 biolink:NamedThing pseudomonilethrix phenio_relaxed_subqs.owl MONDO:0008336 biolink:NamedThing pterygium colli, isolated phenio_relaxed_subqs.owl MONDO:0008340 biolink:NamedThing ptosis, hereditary congenital, 1 Congenital ptosis is characterized by superior eyelid drop present at birth. phenio_relaxed_subqs.owl MONDO:0008342 biolink:NamedThing pubic bone dysplasia phenio_relaxed_subqs.owl MONDO:0008343 biolink:NamedThing pulmonary atresia with ventricular septal defect Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot. phenio_relaxed_subqs.owl MONDO:0008344 biolink:NamedThing pulmonary edema of mountaineers, susceptibility to phenio_relaxed_subqs.owl MONDO:0008349 biolink:NamedThing pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities phenio_relaxed_subqs.owl MONDO:0008350 biolink:NamedThing pulmonic stenosis and deafness phenio_relaxed_subqs.owl MONDO:0008352 biolink:NamedThing pupillary membrane, persistence of phenio_relaxed_subqs.owl MONDO:0008354 biolink:NamedThing purpura simplex phenio_relaxed_subqs.owl MONDO:0008356 biolink:NamedThing radial heads, posterior dislocation of phenio_relaxed_subqs.owl MONDO:0008361 biolink:NamedThing radius, aplasia of, with cleft lip/palate phenio_relaxed_subqs.owl MONDO:0008362 biolink:NamedThing ragweed sensitivity phenio_relaxed_subqs.owl MONDO:0008363 biolink:NamedThing raindrop hypopigmentation phenio_relaxed_subqs.owl MONDO:0008364 biolink:NamedThing Raynaud disease An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease. phenio_relaxed_subqs.owl MONDO:0008365 biolink:NamedThing recombinant 8 syndrome Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism. phenio_relaxed_subqs.owl MONDO:0008366 biolink:NamedThing red cell permeability defect phenio_relaxed_subqs.owl MONDO:0008367 biolink:NamedThing red cell phospholipid defect with hemolysis phenio_relaxed_subqs.owl MONDO:0008373 biolink:NamedThing retinal arterial tortuosity phenio_relaxed_subqs.owl MONDO:0008376 biolink:NamedThing retinal venous beading phenio_relaxed_subqs.owl MONDO:0008385 biolink:NamedThing rhiny phenio_relaxed_subqs.owl MONDO:0008387 biolink:NamedThing ring dermoid of cornea Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition. phenio_relaxed_subqs.owl MONDO:0008391 biolink:NamedThing Robinow-Sorauf syndrome phenio_relaxed_subqs.owl MONDO:0008397 biolink:NamedThing aplasia of lacrimal and salivary glands Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation. phenio_relaxed_subqs.owl MONDO:0008398 biolink:NamedThing salivary substance, Clostridium botulinum type phenio_relaxed_subqs.owl MONDO:0008400 biolink:NamedThing salivary duct calculi Presence of small calculi in the terminal salivary ducts (salivary sand), or stones (larger calculi) found in the larger ducts. phenio_relaxed_subqs.owl MONDO:0008401 biolink:NamedThing pleomorphic adenoma A neoplasm characterized by the presence of benign epithelial and myoepithelial cells and a mesenchymal component that may contain mucoid, myxoid, cartilaginous, or osseous areas. It may be completely or partially encapsulated. It occurs in the parotid gland, submandibular gland, minor salivary glands in the oral cavity, upper respiratory tract, and nasal cavity and paranasal sinuses. It usually presents as a slow growing painless mass. Infrequently, patients may present with pain and facial palsy. It may recur after excision or transform to a malignant neoplasm (carcinoma ex pleomorphic adenoma). phenio_relaxed_subqs.owl MONDO:0008424 biolink:NamedThing sella turcica, bridged phenio_relaxed_subqs.owl MONDO:0008427 biolink:NamedThing sister chromatid exchange, frequency of phenio_relaxed_subqs.owl MONDO:0008430 biolink:NamedThing skeletal dysplasia with delayed epiphyseal and carpal bone ossification phenio_relaxed_subqs.owl MONDO:0008431 biolink:NamedThing slipped femoral capital epiphyses A developmental deformity in which the metaphysis of the femur moves proximally and anteriorly away from femur head (epiphysis) at the upper growth plate. It is most common in male adolescents and is associated with a greater risk of early osteoarthritis of the hip. phenio_relaxed_subqs.owl MONDO:0008435 biolink:NamedThing Somatomedin, embryonic phenio_relaxed_subqs.owl MONDO:0008441 biolink:NamedThing spastic paraplegia with associated extrapyramidal signs phenio_relaxed_subqs.owl MONDO:0008444 biolink:NamedThing spastic paraplegia, optic atrophy, and dementia phenio_relaxed_subqs.owl MONDO:0008446 biolink:NamedThing sperm protamine P4 phenio_relaxed_subqs.owl MONDO:0008456 biolink:NamedThing spinocerebellar ataxia with rigidity and peripheral neuropathy phenio_relaxed_subqs.owl MONDO:0008459 biolink:NamedThing spinocerebellar atrophy with pupillary paralysis phenio_relaxed_subqs.owl MONDO:0008461 biolink:NamedThing splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells phenio_relaxed_subqs.owl MONDO:0008462 biolink:NamedThing split lower lip phenio_relaxed_subqs.owl MONDO:0008463 biolink:NamedThing split-hand and split-foot with hypodontia phenio_relaxed_subqs.owl MONDO:0008470 biolink:NamedThing spondyloepiphyseal dysplasia with punctate corneal dystrophy phenio_relaxed_subqs.owl MONDO:0008473 biolink:NamedThing spondyloepimetaphyseal dysplasia, Maroteaux type A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis. phenio_relaxed_subqs.owl MONDO:0008475 biolink:NamedThing spondylolisthesis A condition in which there is forward displacement of a vertebral bone over the on below it. phenio_relaxed_subqs.owl MONDO:0008481 biolink:NamedThing spondylosis, cervical phenio_relaxed_subqs.owl MONDO:0008489 biolink:NamedThing sternum, premature obliteration of sutures of phenio_relaxed_subqs.owl MONDO:0008496 biolink:NamedThing storm syndrome phenio_relaxed_subqs.owl MONDO:0008498 biolink:NamedThing strabismus, susceptibility to phenio_relaxed_subqs.owl MONDO:0008500 biolink:NamedThing striae distensae, familial phenio_relaxed_subqs.owl MONDO:0008505 biolink:NamedThing surface antigen, glycoprotein 75 phenio_relaxed_subqs.owl MONDO:0008506 biolink:NamedThing symphalangism of toes phenio_relaxed_subqs.owl MONDO:0008507 biolink:NamedThing surface polypeptides, anonymous phenio_relaxed_subqs.owl MONDO:0008508 biolink:NamedThing symphalangism, C. S. Lewis type phenio_relaxed_subqs.owl MONDO:0008520 biolink:NamedThing brachydactyly-elbow wrist dysplasia syndrome Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported. phenio_relaxed_subqs.owl MONDO:0008522 biolink:NamedThing synovial chondromatosis, familial, with dwarfism phenio_relaxed_subqs.owl MONDO:0008524 biolink:NamedThing syringomas, multiple phenio_relaxed_subqs.owl MONDO:0008526 biolink:NamedThing talonavicular coalition phenio_relaxed_subqs.owl MONDO:0008527 biolink:NamedThing tarsal coalition phenio_relaxed_subqs.owl MONDO:0008528 biolink:NamedThing tear protein, anodal phenio_relaxed_subqs.owl MONDO:0008529 biolink:NamedThing T-cell Subgroups, non-HLA-linked phenio_relaxed_subqs.owl MONDO:0008530 biolink:NamedThing teeth, odd shapes of phenio_relaxed_subqs.owl MONDO:0008532 biolink:NamedThing teeth present at birth phenio_relaxed_subqs.owl MONDO:0008533 biolink:NamedThing teeth, supernumerary An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption. phenio_relaxed_subqs.owl MONDO:0008536 biolink:NamedThing temperature-sensitive lethal mutation phenio_relaxed_subqs.owl MONDO:0008541 biolink:NamedThing spermatic cord torsion An emergency condition caused by the twisting of the spermatic cord which contains the vessels that provide the blood supply to the testis and surrounding structures. It manifests with acute testicular pain. If immediate medical assistance is not provided, it will lead to necrosis and loss of the testicular tissue. phenio_relaxed_subqs.owl MONDO:0008542 biolink:NamedThing tetralogy of fallot Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy. phenio_relaxed_subqs.owl MONDO:0008543 biolink:NamedThing tetralogy of fallot and glaucoma phenio_relaxed_subqs.owl MONDO:0008547 biolink:NamedThing thanatophoric dysplasia type 2 Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs. phenio_relaxed_subqs.owl MONDO:0008549 biolink:NamedThing thoracic dysostosis, isolated phenio_relaxed_subqs.owl MONDO:0008561 biolink:NamedThing thumb deformity phenio_relaxed_subqs.owl MONDO:0008568 biolink:NamedThing thyroid hormone plasma membrane transport defect phenio_relaxed_subqs.owl MONDO:0008572 biolink:NamedThing tibia, hypoplasia or aplasia of, with polydactyly phenio_relaxed_subqs.owl MONDO:0008573 biolink:NamedThing tibial torsion, bilateral medial phenio_relaxed_subqs.owl MONDO:0008576 biolink:NamedThing toe, fifth, number of phalanges 1N phenio_relaxed_subqs.owl MONDO:0008577 biolink:NamedThing toe, misshapen phenio_relaxed_subqs.owl MONDO:0008578 biolink:NamedThing toe, rotated fifth phenio_relaxed_subqs.owl MONDO:0008579 biolink:NamedThing toes, relative length of first and second phenio_relaxed_subqs.owl MONDO:0008580 biolink:NamedThing toes, space between first and second phenio_relaxed_subqs.owl MONDO:0008581 biolink:NamedThing malposition of teeth with or without hypodontia/oligodontia phenio_relaxed_subqs.owl MONDO:0008584 biolink:NamedThing torus palatinus and torus mandibularis phenio_relaxed_subqs.owl MONDO:0008589 biolink:NamedThing tremor of intention, ataxia, and lipofuscinosis phenio_relaxed_subqs.owl MONDO:0008593 biolink:NamedThing trichomegaly phenio_relaxed_subqs.owl MONDO:0008595 biolink:NamedThing trichoepitheliomas, multiple desmoplastic phenio_relaxed_subqs.owl MONDO:0008600 biolink:NamedThing trigger thumb A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58). phenio_relaxed_subqs.owl MONDO:0008604 biolink:NamedThing triphalangeal thumb with double phalanges phenio_relaxed_subqs.owl MONDO:0008605 biolink:NamedThing triphalangeal thumb, Nonopposable phenio_relaxed_subqs.owl MONDO:0008609 biolink:NamedThing Tristichiasis phenio_relaxed_subqs.owl MONDO:0008613 biolink:NamedThing Tuftsin deficiency phenio_relaxed_subqs.owl MONDO:0008614 biolink:NamedThing suppressor of tumorigenicity 3 phenio_relaxed_subqs.owl MONDO:0008615 biolink:NamedThing tune deafness phenio_relaxed_subqs.owl MONDO:0008623 biolink:NamedThing Undritz anomaly phenio_relaxed_subqs.owl MONDO:0008624 biolink:NamedThing Upington disease Upington disease is characterised by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant. phenio_relaxed_subqs.owl MONDO:0008626 biolink:NamedThing ureter, bifid or double phenio_relaxed_subqs.owl MONDO:0008628 biolink:NamedThing ureterocele A cystic and dysplastic dilation of the distal ureter within the bladder that may extend into the bladder neck and urethra. phenio_relaxed_subqs.owl MONDO:0008629 biolink:NamedThing urolithiasis, uric acid, autosomal dominant phenio_relaxed_subqs.owl MONDO:0008630 biolink:NamedThing urinary bladder, atony of phenio_relaxed_subqs.owl MONDO:0008635 biolink:NamedThing uterine anomalies phenio_relaxed_subqs.owl MONDO:0008639 biolink:NamedThing vascular helix of umbilical cord phenio_relaxed_subqs.owl MONDO:0008643 biolink:NamedThing veins, pattern of, on anterior thorax phenio_relaxed_subqs.owl MONDO:0008649 biolink:NamedThing venular insufficiency, systemic phenio_relaxed_subqs.owl MONDO:0008651 biolink:NamedThing vertebral hypoplasia with lumbar kyphosis phenio_relaxed_subqs.owl MONDO:0008652 biolink:NamedThing congenital vertical talus Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus. phenio_relaxed_subqs.owl MONDO:0008655 biolink:NamedThing vestibulocochlear dysfunction, progressive phenio_relaxed_subqs.owl MONDO:0008658 biolink:NamedThing virus Rd114 RNA Complementarity phenio_relaxed_subqs.owl MONDO:0008666 biolink:NamedThing volvulus of midgut A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction. phenio_relaxed_subqs.owl MONDO:0008685 biolink:NamedThing Wolff-Parkinson-white syndrome A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes. phenio_relaxed_subqs.owl MONDO:0008687 biolink:NamedThing Woronets trait phenio_relaxed_subqs.owl MONDO:0008691 biolink:NamedThing zinc, elevated plasma phenio_relaxed_subqs.owl MONDO:0008721 biolink:NamedThing medium chain acyl-CoA dehydrogenase deficiency Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention. phenio_relaxed_subqs.owl MONDO:0008722 biolink:NamedThing short chain acyl-CoA dehydrogenase deficiency Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy. phenio_relaxed_subqs.owl MONDO:0008723 biolink:NamedThing very long chain acyl-CoA dehydrogenase deficiency An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis. phenio_relaxed_subqs.owl MONDO:0008733 biolink:NamedThing familial glucocorticoid deficiency Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency. phenio_relaxed_subqs.owl MONDO:0008738 biolink:NamedThing aganglionosis, total intestinal A complete lack of ganglia in the intestine. This is an extremely severe form of aganglionosis distinct from Hirschsprung Disease. This is an n-of-1 use case where only one patient or family has been described with this disorder. phenio_relaxed_subqs.owl MONDO:0008739 biolink:NamedThing agenesis of cerebral white matter phenio_relaxed_subqs.owl MONDO:0008773 biolink:NamedThing amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis phenio_relaxed_subqs.owl MONDO:0008775 biolink:NamedThing Amobarbital, deficient N-hydroxylation of phenio_relaxed_subqs.owl MONDO:0008776 biolink:NamedThing amyloidosis of gingiva and conjunctiva, with intellectual disability phenio_relaxed_subqs.owl MONDO:0008777 biolink:NamedThing gelatinous drop-like corneal dystrophy Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment. phenio_relaxed_subqs.owl MONDO:0008778 biolink:NamedThing amyloidosis, cutaneous bullous phenio_relaxed_subqs.owl MONDO:0008793 biolink:NamedThing angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert phenio_relaxed_subqs.owl MONDO:0008797 biolink:NamedThing anodontia Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth. phenio_relaxed_subqs.owl MONDO:0008801 biolink:NamedThing anosmia for isobutyric acid phenio_relaxed_subqs.owl MONDO:0008802 biolink:NamedThing antithrombin, familial hemorrhagic diathesis due to phenio_relaxed_subqs.owl MONDO:0008819 biolink:NamedThing arteriosclerosis, severe juvenile phenio_relaxed_subqs.owl MONDO:0008821 biolink:NamedThing arthrogryposis, distal, with intellectual disability and characteristic facies phenio_relaxed_subqs.owl MONDO:0008827 biolink:NamedThing progressive pseudorheumatoid arthropathy of childhood Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED. phenio_relaxed_subqs.owl MONDO:0008834 biolink:NamedThing asthma, nasal polyps, and aspirin intolerance phenio_relaxed_subqs.owl MONDO:0008835 biolink:NamedThing asthma, short stature, and elevated IgA phenio_relaxed_subqs.owl MONDO:0008836 biolink:NamedThing ataxia with myoclonic epilepsy and presenile dementia phenio_relaxed_subqs.owl MONDO:0008837 biolink:NamedThing ataxia, deafness, and cardiomyopathy phenio_relaxed_subqs.owl MONDO:0008839 biolink:NamedThing ataxia-microcephaly-cataract syndrome phenio_relaxed_subqs.owl MONDO:0008844 biolink:NamedThing Athrombia, essential phenio_relaxed_subqs.owl MONDO:0008845 biolink:NamedThing atonic-astatic syndrome of Foerster phenio_relaxed_subqs.owl MONDO:0008848 biolink:NamedThing atrioventricular dissociation Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the sinoatrial node and the right atrium (sa block) or between atria and ventricles (av block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects. phenio_relaxed_subqs.owl MONDO:0008858 biolink:NamedThing Behr syndrome Behr syndrome is a disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient. phenio_relaxed_subqs.owl MONDO:0008859 biolink:NamedThing berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification phenio_relaxed_subqs.owl MONDO:0008860 biolink:NamedThing beta-aminoisobutyric acid, urinary excretion of phenio_relaxed_subqs.owl MONDO:0008868 biolink:NamedThing biliary malformation with renal tubular insufficiency phenio_relaxed_subqs.owl MONDO:0008880 biolink:NamedThing Bowen syndrome of multiple malformations phenio_relaxed_subqs.owl MONDO:0008883 biolink:NamedThing brachydactyly, type A2, with microcephaly phenio_relaxed_subqs.owl MONDO:0008886 biolink:NamedThing Sabinas brittle hair syndrome phenio_relaxed_subqs.owl MONDO:0008895 biolink:NamedThing hereditary arterial and articular multiple calcification syndrome Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints. phenio_relaxed_subqs.owl MONDO:0008902 biolink:NamedThing camptodactyly-ichthyosis syndrome phenio_relaxed_subqs.owl MONDO:0008909 biolink:NamedThing congenital disorder of glycosylation, type i/IIx phenio_relaxed_subqs.owl MONDO:0008910 biolink:NamedThing carboxypeptidase N deficiency An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity. phenio_relaxed_subqs.owl MONDO:0008912 biolink:NamedThing cardiac septal defects with coarctation of the aorta phenio_relaxed_subqs.owl MONDO:0008913 biolink:NamedThing cardiac valvular defect, developmental phenio_relaxed_subqs.owl MONDO:0008914 biolink:NamedThing cardioauditory syndrome of Sanchez Cascos phenio_relaxed_subqs.owl MONDO:0008916 biolink:NamedThing cardiomyopathy associated with myopathy and sudden death phenio_relaxed_subqs.owl MONDO:0008920 biolink:NamedThing carnitine deficiency, myopathic phenio_relaxed_subqs.owl MONDO:0008927 biolink:NamedThing colobomatous optic disc-macular atrophy-chorioretinopathy syndrome phenio_relaxed_subqs.owl MONDO:0008931 biolink:NamedThing Cenani-Lenz syndactyly syndrome Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs. phenio_relaxed_subqs.owl MONDO:0008932 biolink:NamedThing premature centromere division phenio_relaxed_subqs.owl MONDO:0008933 biolink:NamedThing cephalin lipidosis phenio_relaxed_subqs.owl MONDO:0008936 biolink:NamedThing cerebellar ataxia and neurosensory deafness phenio_relaxed_subqs.owl MONDO:0008937 biolink:NamedThing cerebellar ataxia, benign, with thermoanalgesia phenio_relaxed_subqs.owl MONDO:0008946 biolink:NamedThing cerebral angiopathy, dysphoric phenio_relaxed_subqs.owl MONDO:0008949 biolink:NamedThing cerebral malformation, seizures, hypertrichosis, and overlapping fingers phenio_relaxed_subqs.owl MONDO:0008951 biolink:NamedThing cerebrocortical degeneration of infancy phenio_relaxed_subqs.owl MONDO:0008957 biolink:NamedThing cervical vertebrae, agenesis of phenio_relaxed_subqs.owl MONDO:0008959 biolink:NamedThing CHAND syndrome phenio_relaxed_subqs.owl MONDO:0008968 biolink:NamedThing cholestasis with gallstone, ataxia, and visual disturbance phenio_relaxed_subqs.owl MONDO:0008969 biolink:NamedThing cholesterol pneumonia phenio_relaxed_subqs.owl MONDO:0008970 biolink:NamedThing chondrodysplasia Blomstrand type Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality. phenio_relaxed_subqs.owl MONDO:0008975 biolink:NamedThing otospondylomegaepiphyseal dysplasia An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies. phenio_relaxed_subqs.owl MONDO:0008976 biolink:NamedThing chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome phenio_relaxed_subqs.owl MONDO:0008982 biolink:NamedThing central areolar choroidal dystrophy A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity. phenio_relaxed_subqs.owl MONDO:0008983 biolink:NamedThing chromosomal instability with tissue-specific radiosensitivity phenio_relaxed_subqs.owl MONDO:0008986 biolink:NamedThing circumvallate placenta syndrome phenio_relaxed_subqs.owl MONDO:0008989 biolink:NamedThing citrulline transport defect phenio_relaxed_subqs.owl MONDO:0008995 biolink:NamedThing Yunis-Varon syndrome Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. phenio_relaxed_subqs.owl MONDO:0009002 biolink:NamedThing coloboma, ocular, autosomal recessive phenio_relaxed_subqs.owl MONDO:0009007 biolink:NamedThing Jalili syndrome Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD). phenio_relaxed_subqs.owl MONDO:0009013 biolink:NamedThing convulsive disorder, familial, with prenatal or early onset phenio_relaxed_subqs.owl MONDO:0009017 biolink:NamedThing corneal degeneration, band-shaped spheroid phenio_relaxed_subqs.owl MONDO:0009019 biolink:NamedThing congenital hereditary endothelial dystrophy of cornea A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision. phenio_relaxed_subqs.owl MONDO:0009027 biolink:NamedThing cramps, familial adolescent phenio_relaxed_subqs.owl MONDO:0009029 biolink:NamedThing cranial nerves, congenital paresis of phenio_relaxed_subqs.owl MONDO:0009030 biolink:NamedThing cranial nerves, recurrent paresis of phenio_relaxed_subqs.owl MONDO:0009037 biolink:NamedThing craniosynostosis with anomalies of the cranial base and digits phenio_relaxed_subqs.owl MONDO:0009040 biolink:NamedThing craniosynostosis-intellectual disability syndrome of 51N and Gettig phenio_relaxed_subqs.owl MONDO:0009047 biolink:NamedThing cryptorchidism The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life. phenio_relaxed_subqs.owl MONDO:0009048 biolink:NamedThing curved nail of fourth toe phenio_relaxed_subqs.owl MONDO:0009056 biolink:NamedThing cutis verticis gyrata and intellectual disability phenio_relaxed_subqs.owl MONDO:0009057 biolink:NamedThing cyanosis and hepatic disease phenio_relaxed_subqs.owl MONDO:0009059 biolink:NamedThing cysteine Peptiduria phenio_relaxed_subqs.owl MONDO:0009060 biolink:NamedThing cystic disease of lung phenio_relaxed_subqs.owl MONDO:0009077 biolink:NamedThing deafness, congenital, and familial myoclonic epilepsy phenio_relaxed_subqs.owl MONDO:0009087 biolink:NamedThing deafness, neural, congenital moderate phenio_relaxed_subqs.owl MONDO:0009088 biolink:NamedThing deafness, neural, with atypical atopic dermatitis phenio_relaxed_subqs.owl MONDO:0009098 biolink:NamedThing dextrocardia with unusual facies and microphthalmia phenio_relaxed_subqs.owl MONDO:0009102 biolink:NamedThing diaminopentanuria phenio_relaxed_subqs.owl MONDO:0009107 biolink:NamedThing diastrophic dysplasia Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips). phenio_relaxed_subqs.owl MONDO:0009118 biolink:NamedThing disseminated sclerosis with narcolepsy phenio_relaxed_subqs.owl MONDO:0009119 biolink:NamedThing diverticulosis, small-intestinal phenio_relaxed_subqs.owl MONDO:0009122 biolink:NamedThing Dohle bodies and leukemia phenio_relaxed_subqs.owl MONDO:0009127 biolink:NamedThing dwarfism, low-birth-weight type, with unresponsiveness to growth hormone phenio_relaxed_subqs.owl MONDO:0009128 biolink:NamedThing dwarfism, intellectual disability, and eye abnormality phenio_relaxed_subqs.owl MONDO:0009129 biolink:NamedThing dwarfism, proportionate, with hip dislocation phenio_relaxed_subqs.owl MONDO:0009130 biolink:NamedThing Dyggve-Melchior-Clausen disease Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias. phenio_relaxed_subqs.owl MONDO:0009132 biolink:NamedThing dysautonomia-like disorder phenio_relaxed_subqs.owl MONDO:0009137 biolink:NamedThing dysmyelination with jaundice phenio_relaxed_subqs.owl MONDO:0009142 biolink:NamedThing dystonia with Ringbinden phenio_relaxed_subqs.owl MONDO:0009152 biolink:NamedThing ectopia lentis 2, isolated, autosomal recessive An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21. phenio_relaxed_subqs.owl MONDO:0009153 biolink:NamedThing ectopia lentis et pupillae phenio_relaxed_subqs.owl MONDO:0009163 biolink:NamedThing encephalomalacia, multilocular phenio_relaxed_subqs.owl MONDO:0009164 biolink:NamedThing encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts phenio_relaxed_subqs.owl MONDO:0009170 biolink:NamedThing endocardial fibroelastosis and coarctation of abdominal aorta phenio_relaxed_subqs.owl MONDO:0009171 biolink:NamedThing endothelial dystrophy, congenital hereditary, with nail hypoplasia phenio_relaxed_subqs.owl MONDO:0009173 biolink:NamedThing congenital enteropathy due to enteropeptidase deficiency A rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated. phenio_relaxed_subqs.owl MONDO:0009174 biolink:NamedThing protein-losing enteropathy Pathological conditions in the intestines that are characterized by the gastrointestinal loss of serum proteins, including serum albumin; immunoglobulins; and at times lymphocytes. Severe condition can result in hypogammaglobulinemia or lymphopenia. Protein-losing enteropathies are associated with a number of diseases including intestinal lymphangiectasis; whipple'S disease; and neoplasms of the small intestine. phenio_relaxed_subqs.owl MONDO:0009184 biolink:NamedThing epidermolysis bullosa with diaphragmatic hernia phenio_relaxed_subqs.owl MONDO:0009186 biolink:NamedThing epilepsy, photogenic, with spastic diplegia and intellectual disability phenio_relaxed_subqs.owl MONDO:0009190 biolink:NamedThing epiphyseal dysplasia of femoral head, myopia, and deafness phenio_relaxed_subqs.owl MONDO:0009193 biolink:NamedThing epithelial squamous dysplasia, keratinizing desquamative, of urinary tract phenio_relaxed_subqs.owl MONDO:0009194 biolink:NamedThing immunodeficiency 32B A rare progressive disease that begins as a primary Epstein-Barr virus (EBV) infection. In this type of infection, the body makes too many lymphocytes (lymphoproliferative disease) for a period of more than 6 months duration. Lymphocytes are a type of white blood cell. They are an importantpart ofthe immune system because they help fight off diseases and protect the body from infection byproducing antibodies against viruses or bacteria and regulating immune responses. In CAEBV there are many antibodies againstEBV in the blood.Most people (about 95% of adults) get infected with EBV at some point in their lives, and never have any health problems.However, EBV can cause infectiousmononucleosis and other illnesses, and has a role in various autoimmune diseases and some types of cancer. While most infections occurring during childhood do not cause any symptoms,EBV infection in adolescents or young adults can often result in mononucleosis.After an EBV infection, the virus becomes latent (inactive) in the body, and, in some cases, the virus may reactivate. This does not always cause symptoms, but people with weakened immune systems are more likely to develop symptoms if EBV reactivates.In rare cases, people infected with EBV develop chronic active EBV virus infection(CAEBV) without apparent immunodeficiency. Most cases of CAEBV have been reported from Japan. These patientshave some of the complications found in otherwise-healthy patients with acute EBV infection, but unlike healthy patients, these complications persist and progress. Symptoms of CAEBV most often include fever, liverdysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia) as well as high EBV-DNA load in the blood. Other features that appear in more than 10% of patients include enlarged liver (hepatomegaly), anemia, hypersensitivity to mosquito bites, rash, oral ulcers, hemophagocytic syndrome, coronary artery aneurysms, liver failure, lymphoma, and interstitial pneumonia. While the cause is yet unknown, researchers have identified defects in T cells or natural killer (NK) cells activity which results in a decreased defense against the EBV in people with CAEBV.It is important to note that the fatigue and malaise from acute infectious mononucleosis (IM)varies from mild symptoms lasting only a few weeks, to more severe symptoms of fatigue that can persist for several months, or even up to a year or more in up to 10% of patients (which may be considered a less severe form of chronicEBV infection). The persistence of fatigue that is seen in some patients after acute IM would lead some people to believe that EBV may also cause cases of chronic fatigue syndrome (CFS). However, no convincing link has been found between EBV and CFS.Hematopoietic stemcell transplantation has shown promise in the treatment of CAEBV. phenio_relaxed_subqs.owl MONDO:0009195 biolink:NamedThing erythema of acral regions phenio_relaxed_subqs.owl MONDO:0009199 biolink:NamedThing ethanolaminosis phenio_relaxed_subqs.owl MONDO:0009201 biolink:NamedThing facial abnormalities, kyphoscoliosis, and intellectual disability phenio_relaxed_subqs.owl MONDO:0009208 biolink:NamedThing faciothoracogenital syndrome phenio_relaxed_subqs.owl MONDO:0009217 biolink:NamedThing Fanconi-like syndrome A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies. phenio_relaxed_subqs.owl MONDO:0009225 biolink:NamedThing fever, familial lifelong persistent phenio_relaxed_subqs.owl MONDO:0009229 biolink:NamedThing hyaline fibromatosis syndrome phenio_relaxed_subqs.owl MONDO:0009230 biolink:NamedThing fibrosclerosis, multifocal phenio_relaxed_subqs.owl MONDO:0009237 biolink:NamedThing focal epithelial hyperplasia Hyperplasia characterized by the presence of a focal proliferation of epithelial cells. phenio_relaxed_subqs.owl MONDO:0009243 biolink:NamedThing Fraser-like syndrome phenio_relaxed_subqs.owl MONDO:0009244 biolink:NamedThing Freesia Flowers, inability to smell phenio_relaxed_subqs.owl MONDO:0009246 biolink:NamedThing Friedreich ataxia and congenital glaucoma phenio_relaxed_subqs.owl MONDO:0009248 biolink:NamedThing fructose and galactose intolerance phenio_relaxed_subqs.owl MONDO:0009256 biolink:NamedThing galactorrhea Excessive or inappropriate lactation in females or males, and not necessarily related to pregnancy. Galactorrhea can occur either unilaterally or bilaterally, and be profuse or sparse. Its most common cause is hyperprolactinemia. phenio_relaxed_subqs.owl MONDO:0009274 biolink:NamedThing ghosal hematodiaphyseal dysplasia Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia. phenio_relaxed_subqs.owl MONDO:0009286 biolink:NamedThing gluteal muscles, absence of phenio_relaxed_subqs.owl MONDO:0009298 biolink:NamedThing GOMBO syndrome phenio_relaxed_subqs.owl MONDO:0009305 biolink:NamedThing granulocytopenia with immunoglobulin abnormality phenio_relaxed_subqs.owl MONDO:0009311 biolink:NamedThing grouped pigmentation of the retina phenio_relaxed_subqs.owl MONDO:0009323 biolink:NamedThing Halothane hepatitis phenio_relaxed_subqs.owl MONDO:0009327 biolink:NamedThing heart, malformation of phenio_relaxed_subqs.owl MONDO:0009328 biolink:NamedThing hemangiomatosis, cutaneous, with associated features phenio_relaxed_subqs.owl MONDO:0009343 biolink:NamedThing Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect phenio_relaxed_subqs.owl MONDO:0009347 biolink:NamedThing familial lipochrome histiocytosis phenio_relaxed_subqs.owl MONDO:0009355 biolink:NamedThing Hooft disease phenio_relaxed_subqs.owl MONDO:0009358 biolink:NamedThing Hutterite cerebroosteonephrodysplasia syndrome phenio_relaxed_subqs.owl MONDO:0009374 biolink:NamedThing hydroxyprolinemia phenio_relaxed_subqs.owl MONDO:0009375 biolink:NamedThing hymen, imperforate phenio_relaxed_subqs.owl MONDO:0009384 biolink:NamedThing Leydig cell hypoplasia, type 1 Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene. phenio_relaxed_subqs.owl MONDO:0009385 biolink:NamedThing hyperleucine-Isoleucinemia phenio_relaxed_subqs.owl MONDO:0009390 biolink:NamedThing hyperlysinuria with hyperammonemia phenio_relaxed_subqs.owl MONDO:0009391 biolink:NamedThing hypermetabolism due to defect in mitochondria phenio_relaxed_subqs.owl MONDO:0009392 biolink:NamedThing hyperopia, high phenio_relaxed_subqs.owl MONDO:0009395 biolink:NamedThing hyperostosis corticalis generalisata Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies. phenio_relaxed_subqs.owl MONDO:0009396 biolink:NamedThing hyperparathyroidism, neonatal self-limited primary, with hypercalciuria phenio_relaxed_subqs.owl MONDO:0009399 biolink:NamedThing hyperphosphatemia, polyuria, and seizures phenio_relaxed_subqs.owl MONDO:0009403 biolink:NamedThing hypertelorism and tetralogy of fallot phenio_relaxed_subqs.owl MONDO:0009407 biolink:NamedThing hypertrophic neuropathy and cataract phenio_relaxed_subqs.owl MONDO:0009408 biolink:NamedThing hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase phenio_relaxed_subqs.owl MONDO:0009409 biolink:NamedThing hypervitaminosis a, susceptibility to phenio_relaxed_subqs.owl MONDO:0009415 biolink:NamedThing hypoglycemia, leucine-induced phenio_relaxed_subqs.owl MONDO:0009418 biolink:NamedThing hypogonadism with low-grade mental deficiency and microcephaly phenio_relaxed_subqs.owl MONDO:0009421 biolink:NamedThing hypogonadism, male phenio_relaxed_subqs.owl MONDO:0009422 biolink:NamedThing hypohidrosis with abnormal palmar dermal Ridges phenio_relaxed_subqs.owl MONDO:0009423 biolink:NamedThing hypokalemic alkalosis, familial, with specific renal tubulopathy phenio_relaxed_subqs.owl MONDO:0009429 biolink:NamedThing hypophosphatemia, renal, with intracerebral calcifications phenio_relaxed_subqs.owl MONDO:0009432 biolink:NamedThing hypopituitarism, congenital, with central diabetes insipidus phenio_relaxed_subqs.owl MONDO:0009442 biolink:NamedThing ichthyosis congenita with biliary atresia phenio_relaxed_subqs.owl MONDO:0009447 biolink:NamedThing ichthyosis, split hairs, and amino aciduria phenio_relaxed_subqs.owl MONDO:0009453 biolink:NamedThing immune deficiency disease phenio_relaxed_subqs.owl MONDO:0009455 biolink:NamedThing immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes phenio_relaxed_subqs.owl MONDO:0009457 biolink:NamedThing immunoglobulin d level in plasma, low phenio_relaxed_subqs.owl MONDO:0009460 biolink:NamedThing indolylacroyl glycinuria with intellectual disability phenio_relaxed_subqs.owl MONDO:0009462 biolink:NamedThing inosine phosphorylase deficiency, immune defect due to phenio_relaxed_subqs.owl MONDO:0009463 biolink:NamedThing internal carotid arteries, hypoplasia of phenio_relaxed_subqs.owl MONDO:0009472 biolink:NamedThing acetylation, slow phenio_relaxed_subqs.owl MONDO:0009474 biolink:NamedThing isovaleric acid, inability to smell phenio_relaxed_subqs.owl MONDO:0009481 biolink:NamedThing Jumping Frenchmen of Maine phenio_relaxed_subqs.owl MONDO:0009487 biolink:NamedThing keratoconus and congenital hip dysplasia phenio_relaxed_subqs.owl MONDO:0009488 biolink:NamedThing keratoconus posticus circumscriptus phenio_relaxed_subqs.owl MONDO:0009496 biolink:NamedThing Kniest-like dysplasia with pursed lips and ectopia lentis phenio_relaxed_subqs.owl MONDO:0009497 biolink:NamedThing Kifafa seizure disorder phenio_relaxed_subqs.owl MONDO:0009501 biolink:NamedThing metabolic myopathy due to lactate transporter defect Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase. phenio_relaxed_subqs.owl MONDO:0009505 biolink:NamedThing lactic aciduria due to D-lactic acid phenio_relaxed_subqs.owl MONDO:0009508 biolink:NamedThing Lambotte syndrome phenio_relaxed_subqs.owl MONDO:0009521 biolink:NamedThing leukemia, acute myelocytic, with polyposis coli and colon cancer phenio_relaxed_subqs.owl MONDO:0009538 biolink:NamedThing lymphoid system deterioration, progressive phenio_relaxed_subqs.owl MONDO:0009541 biolink:NamedThing lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis phenio_relaxed_subqs.owl MONDO:0009542 biolink:NamedThing lysine malabsorption syndrome phenio_relaxed_subqs.owl MONDO:0009545 biolink:NamedThing macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance phenio_relaxed_subqs.owl MONDO:0009546 biolink:NamedThing macrosomia adiposa congenita phenio_relaxed_subqs.owl MONDO:0009551 biolink:NamedThing magnesium, elevated red cell phenio_relaxed_subqs.owl MONDO:0009555 biolink:NamedThing malocclusion and short stature phenio_relaxed_subqs.owl MONDO:0009559 biolink:NamedThing mandibulofacial dysostosis with mental deficiency phenio_relaxed_subqs.owl MONDO:0009573 biolink:NamedThing megaepiphyseal dwarfism phenio_relaxed_subqs.owl MONDO:0009574 biolink:NamedThing megalencephaly with dysmyelination phenio_relaxed_subqs.owl MONDO:0009576 biolink:NamedThing megalocornea phenio_relaxed_subqs.owl MONDO:0009579 biolink:NamedThing Frank-Ter Haar syndrome Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay. phenio_relaxed_subqs.owl MONDO:0009586 biolink:NamedThing mesangial sclerosis, diffuse renal, with ocular abnormalities phenio_relaxed_subqs.owl MONDO:0009587 biolink:NamedThing mesoaxial hexadactyly and cardiac malformation phenio_relaxed_subqs.owl MONDO:0009596 biolink:NamedThing metaphyseal chondrodysplasia, Pena type phenio_relaxed_subqs.owl MONDO:0009597 biolink:NamedThing metaphyseal chondrodysplasia, Spahr type phenio_relaxed_subqs.owl MONDO:0009598 biolink:NamedThing metaphyseal chondrodysplasia-retinitis pigmentosa syndrome phenio_relaxed_subqs.owl MONDO:0009600 biolink:NamedThing metaphyseal dysplasia, anetoderma, and optic atrophy phenio_relaxed_subqs.owl MONDO:0009602 biolink:NamedThing metaphyseal modeling abnormality, skin lesions, and spastic paraplegia phenio_relaxed_subqs.owl MONDO:0009608 biolink:NamedThing methionine malabsorption syndrome phenio_relaxed_subqs.owl MONDO:0009619 biolink:NamedThing microcephaly-micromelia syndrome phenio_relaxed_subqs.owl MONDO:0009628 biolink:NamedThing microcolon A rare congenital abnormality characterized by the presence of an abnormally small colon. It is the result of intestinal underutilization during fetal development. phenio_relaxed_subqs.owl MONDO:0009632 biolink:NamedThing microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies phenio_relaxed_subqs.owl MONDO:0009633 biolink:NamedThing microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma phenio_relaxed_subqs.owl MONDO:0009634 biolink:NamedThing microtia with meatal atresia and conductive deafness phenio_relaxed_subqs.owl MONDO:0009663 biolink:NamedThing mucus inspissation of respiratory tract phenio_relaxed_subqs.owl MONDO:0009674 biolink:NamedThing muscular dystrophy, adult-onset, with leukoencephalopathy phenio_relaxed_subqs.owl MONDO:0009684 biolink:NamedThing muscular hypertonia, lethal phenio_relaxed_subqs.owl MONDO:0009686 biolink:NamedThing musk, inability to smell phenio_relaxed_subqs.owl MONDO:0009701 biolink:NamedThing myopathy, granulovacuolar lobular, with electrical myotonia phenio_relaxed_subqs.owl MONDO:0009702 biolink:NamedThing myopathy due to malate-aspartate shuttle defect phenio_relaxed_subqs.owl MONDO:0009703 biolink:NamedThing myopathy with abnormal lipid metabolism phenio_relaxed_subqs.owl MONDO:0009706 biolink:NamedThing hereditary myopathy with lactic acidosis due to ISCU deficiency Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase. phenio_relaxed_subqs.owl MONDO:0009707 biolink:NamedThing myopathy with giant abnormal mitochondria phenio_relaxed_subqs.owl MONDO:0009743 biolink:NamedThing neurologic disease, infantile multisystem, with osseous fragility phenio_relaxed_subqs.owl MONDO:0009750 biolink:NamedThing neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive phenio_relaxed_subqs.owl MONDO:0009752 biolink:NamedThing neuropathy, painful phenio_relaxed_subqs.owl MONDO:0009763 biolink:NamedThing obesity-hypoventilation syndrome Hypoventilation syndrome in very obese persons with excessive adipose tissue around the abdomen and diaphragm is characterized by diminished to absent ventilatory chemoresponsiveness; chronic hypoxia; hypercapnia; polycythemia; and long periods of sleep during day and night (hypersomnolence). It is a condition often related to obstructive sleep apnea but can occur separately. phenio_relaxed_subqs.owl MONDO:0009765 biolink:NamedThing ocular myopathy with curare sensitivity phenio_relaxed_subqs.owl MONDO:0009766 biolink:NamedThing oculocerebral hypopigmentation syndrome of Preus phenio_relaxed_subqs.owl MONDO:0009772 biolink:NamedThing oculorenocerebellar syndrome phenio_relaxed_subqs.owl MONDO:0009778 biolink:NamedThing olivopontocerebellar atrophy II, autosomal recessive phenio_relaxed_subqs.owl MONDO:0009781 biolink:NamedThing Onychotrichodysplasia and neutropenia phenio_relaxed_subqs.owl MONDO:0009782 biolink:NamedThing ophthalmoplegia totalis with ptosis and miosis phenio_relaxed_subqs.owl MONDO:0009784 biolink:NamedThing ophthalmoplegic neuromuscular disorder with abnormal mitochondria phenio_relaxed_subqs.owl MONDO:0009785 biolink:NamedThing opsismodysplasia Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism. phenio_relaxed_subqs.owl MONDO:0009788 biolink:NamedThing optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive phenio_relaxed_subqs.owl MONDO:0009790 biolink:NamedThing Opticocochleodentate degeneration phenio_relaxed_subqs.owl MONDO:0009791 biolink:NamedThing oral sensibility, disturbance of phenio_relaxed_subqs.owl MONDO:0009802 biolink:NamedThing osteodysplasty, precocious, of Danks, Mayne, and Kozlowski phenio_relaxed_subqs.owl MONDO:0009803 biolink:NamedThing congenital osteogenesis imperfecta-microcephaly-cataracts syndrome Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterised by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive. phenio_relaxed_subqs.owl MONDO:0009806 biolink:NamedThing Bruck syndrome 1 Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene. phenio_relaxed_subqs.owl MONDO:0009809 biolink:NamedThing multicentric osteolysis, nodulosis, and arthropathy A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy. phenio_relaxed_subqs.owl MONDO:0009811 biolink:NamedThing osteoma of middle ear phenio_relaxed_subqs.owl MONDO:0009812 biolink:NamedThing osteomalacia, sclerosing, with cerebral calcification phenio_relaxed_subqs.owl MONDO:0009821 biolink:NamedThing lethal osteosclerotic bone dysplasia Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. phenio_relaxed_subqs.owl MONDO:0009826 biolink:NamedThing PA polymorphism of alpha-2-globulin phenio_relaxed_subqs.owl MONDO:0009828 biolink:NamedThing palant cleft palate syndrome phenio_relaxed_subqs.owl MONDO:0009832 biolink:NamedThing pancreatic agenesis Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue. phenio_relaxed_subqs.owl MONDO:0009836 biolink:NamedThing pancreatitis, sclerosing cholangitis, and sicca complex phenio_relaxed_subqs.owl MONDO:0009840 biolink:NamedThing Partington-Anderson syndrome phenio_relaxed_subqs.owl MONDO:0009842 biolink:NamedThing Pelger-Huet-like anomaly and episodic fever with abdominal pain phenio_relaxed_subqs.owl MONDO:0009844 biolink:NamedThing pellagra-like syndrome phenio_relaxed_subqs.owl MONDO:0009847 biolink:NamedThing pericardial effusion, chronic Chronic form of pericardial effusion (disease). phenio_relaxed_subqs.owl MONDO:0009850 biolink:NamedThing periodontitis, chronic, adult phenio_relaxed_subqs.owl MONDO:0009851 biolink:NamedThing peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain phenio_relaxed_subqs.owl MONDO:0009854 biolink:NamedThing peroneus tertius muscle, absence of phenio_relaxed_subqs.owl MONDO:0009860 biolink:NamedThing phenformin 4-hydroxylation phenio_relaxed_subqs.owl MONDO:0009881 biolink:NamedThing pituitary dwarfism with large sella turcica phenio_relaxed_subqs.owl MONDO:0009882 biolink:NamedThing plasma clot retraction factor, deficiency of phenio_relaxed_subqs.owl MONDO:0009884 biolink:NamedThing platelet prostacyclin receptor defect phenio_relaxed_subqs.owl MONDO:0009886 biolink:NamedThing pleoconial myopathy with salt craving phenio_relaxed_subqs.owl MONDO:0009888 biolink:NamedThing polycystic kidney, cataract, and congenital blindness phenio_relaxed_subqs.owl MONDO:0009896 biolink:NamedThing polymyoclonus, infantile phenio_relaxed_subqs.owl MONDO:0009898 biolink:NamedThing polysaccharide, storage of unusual phenio_relaxed_subqs.owl MONDO:0009899 biolink:NamedThing polyhydramnios, chronic idiopathic phenio_relaxed_subqs.owl MONDO:0009907 biolink:NamedThing Prepapillary vascular loops phenio_relaxed_subqs.owl MONDO:0009909 biolink:NamedThing progesterone resistance phenio_relaxed_subqs.owl MONDO:0009911 biolink:NamedThing prolactin deficiency, isolated phenio_relaxed_subqs.owl MONDO:0009912 biolink:NamedThing prolactin deficiency with obesity and enlarged testes phenio_relaxed_subqs.owl MONDO:0009913 biolink:NamedThing prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness phenio_relaxed_subqs.owl MONDO:0009922 biolink:NamedThing Pseudouridinuria and mental defect phenio_relaxed_subqs.owl MONDO:0009928 biolink:NamedThing pulmonary alveolar microlithiasis Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner. phenio_relaxed_subqs.owl MONDO:0009932 biolink:NamedThing pulmonary bullae causing pneumothorax phenio_relaxed_subqs.owl MONDO:0009939 biolink:NamedThing pulmonic stenosis and congenital nephrosis phenio_relaxed_subqs.owl MONDO:0009941 biolink:NamedThing Pygmy phenio_relaxed_subqs.owl MONDO:0009943 biolink:NamedThing Pyle disease Pyle disease is a bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning. phenio_relaxed_subqs.owl MONDO:0009944 biolink:NamedThing pyloric atresia phenio_relaxed_subqs.owl MONDO:0009948 biolink:NamedThing pyropoikilocytosis, hereditary An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency. phenio_relaxed_subqs.owl MONDO:0009951 biolink:NamedThing radiculoneuropathy, fatal neonatal phenio_relaxed_subqs.owl MONDO:0009954 biolink:NamedThing Ramon syndrome phenio_relaxed_subqs.owl MONDO:0009956 biolink:NamedThing red skin pigment anomaly of new guinea phenio_relaxed_subqs.owl MONDO:0009957 biolink:NamedThing Reese retinal dysplasia phenio_relaxed_subqs.owl MONDO:0009961 biolink:NamedThing renal and mullerian duct hypoplasia phenio_relaxed_subqs.owl MONDO:0009970 biolink:NamedThing renal tubular dysgenesis of genetic origin An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0009972 biolink:NamedThing respiratory underresponsiveness to hypoxia and hypercapnia phenio_relaxed_subqs.owl MONDO:0009976 biolink:NamedThing retinal degeneration and epilepsy phenio_relaxed_subqs.owl MONDO:0009980 biolink:NamedThing retinal telangiectasia and hypogammaglobulinemia phenio_relaxed_subqs.owl MONDO:0009982 biolink:NamedThing retinitis pigmentosa inversa with deafness phenio_relaxed_subqs.owl MONDO:0009986 biolink:NamedThing retinopathy, pigmentary, and intellectual disability phenio_relaxed_subqs.owl MONDO:0009993 biolink:NamedThing embryonal rhabdomyosarcoma A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis. phenio_relaxed_subqs.owl MONDO:0010000 biolink:NamedThing rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction phenio_relaxed_subqs.owl MONDO:0010003 biolink:NamedThing Rowley-Rosenberg syndrome phenio_relaxed_subqs.owl MONDO:0010018 biolink:NamedThing second metatarsal-metacarpal syndrome phenio_relaxed_subqs.owl MONDO:0010022 biolink:NamedThing senile plaque formation phenio_relaxed_subqs.owl MONDO:0010025 biolink:NamedThing short stature-obesity syndrome phenio_relaxed_subqs.owl MONDO:0010032 biolink:NamedThing Sjogren-Larsson-like ichthyosis without CNS or eye involvement phenio_relaxed_subqs.owl MONDO:0010034 biolink:NamedThing anosmia for butyl mercaptan phenio_relaxed_subqs.owl MONDO:0010037 biolink:NamedThing sodium-potassium-ATPase activity of red cell phenio_relaxed_subqs.owl MONDO:0010038 biolink:NamedThing growth delay due to insulin-like growth factor I resistance Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum). phenio_relaxed_subqs.owl MONDO:0010040 biolink:NamedThing ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability phenio_relaxed_subqs.owl MONDO:0010042 biolink:NamedThing spastic diplegia and intellectual disability phenio_relaxed_subqs.owl MONDO:0010048 biolink:NamedThing spastic paraplegia with myoclonic epilepsy phenio_relaxed_subqs.owl MONDO:0010050 biolink:NamedThing spastic pseudosclerosis phenio_relaxed_subqs.owl MONDO:0010054 biolink:NamedThing spinal muscular atrophy with intellectual disability phenio_relaxed_subqs.owl MONDO:0010055 biolink:NamedThing spinal muscular atrophy with microcephaly and mental subnormality phenio_relaxed_subqs.owl MONDO:0010067 biolink:NamedThing splenoportal vascular anomalies phenio_relaxed_subqs.owl MONDO:0010077 biolink:NamedThing spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal. phenio_relaxed_subqs.owl MONDO:0010084 biolink:NamedThing sucrosuria, hiatus hernia and intellectual disability phenio_relaxed_subqs.owl MONDO:0010093 biolink:NamedThing syndesmodysplasic dwarfism phenio_relaxed_subqs.owl MONDO:0010094 biolink:NamedThing spondylocarpotarsal synostosis syndrome Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism. phenio_relaxed_subqs.owl MONDO:0010096 biolink:NamedThing tardive dyskinesia phenio_relaxed_subqs.owl MONDO:0010098 biolink:NamedThing taurodontism Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome. phenio_relaxed_subqs.owl MONDO:0010103 biolink:NamedThing teeth, fused phenio_relaxed_subqs.owl MONDO:0010106 biolink:NamedThing testes, rudimentary phenio_relaxed_subqs.owl MONDO:0010109 biolink:NamedThing tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities phenio_relaxed_subqs.owl MONDO:0010112 biolink:NamedThing thalamic degeneration, symmetric infantile phenio_relaxed_subqs.owl MONDO:0010124 biolink:NamedThing thumb, distal hyperextensibility of phenio_relaxed_subqs.owl MONDO:0010126 biolink:NamedThing thymic aplasia with fetal death phenio_relaxed_subqs.owl MONDO:0010127 biolink:NamedThing thymoma, familial An instance of thymoma (disease) that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0010140 biolink:NamedThing isolated thyrotropin-releasing hormone deficiency Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone. phenio_relaxed_subqs.owl MONDO:0010141 biolink:NamedThing tiglic acidemia phenio_relaxed_subqs.owl MONDO:0010145 biolink:NamedThing tibia, absence of, with congenital deafness phenio_relaxed_subqs.owl MONDO:0010147 biolink:NamedThing tongue, pigmented fungiform papillae of phenio_relaxed_subqs.owl MONDO:0010157 biolink:NamedThing Tryptophanuria with dwarfism phenio_relaxed_subqs.owl MONDO:0010158 biolink:NamedThing T-substance anomaly phenio_relaxed_subqs.owl MONDO:0010163 biolink:NamedThing Tyrosinosis phenio_relaxed_subqs.owl MONDO:0010166 biolink:NamedThing ulnar agenesis and endocardial fibroelastosis phenio_relaxed_subqs.owl MONDO:0010174 biolink:NamedThing Valinemia Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine.Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzymevaline transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes adiet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal. phenio_relaxed_subqs.owl MONDO:0010175 biolink:NamedThing van Bogaert-Hozay syndrome phenio_relaxed_subqs.owl MONDO:0010177 biolink:NamedThing vascular hyalinosis A syndrome characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikilodermia and greying hair, as well as severe diarrhoea, rectal bleeding, malabsorption and subarachnoid hemorrhage. phenio_relaxed_subqs.owl MONDO:0010179 biolink:NamedThing isolated right ventricular hypoplasia Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy. phenio_relaxed_subqs.owl MONDO:0010189 biolink:NamedThing vitiligo, progressive, with intellectual disability and urethral duplication phenio_relaxed_subqs.owl MONDO:0010201 biolink:NamedThing Winchester syndrome phenio_relaxed_subqs.owl MONDO:0010217 biolink:NamedThing de Sanctis-Cacchione syndrome A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities. phenio_relaxed_subqs.owl MONDO:0010219 biolink:NamedThing xylosidase deficiency phenio_relaxed_subqs.owl MONDO:0010232 biolink:NamedThing intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms. phenio_relaxed_subqs.owl MONDO:0010244 biolink:NamedThing CGF1 phenio_relaxed_subqs.owl MONDO:0010248 biolink:NamedThing X-linked spondyloepimetaphyseal dysplasia X-linked form of spondyloepimetaphyseal dysplasia. phenio_relaxed_subqs.owl MONDO:0010260 biolink:NamedThing arthrogryposis, congenital, lower limb, X-linked phenio_relaxed_subqs.owl MONDO:0010262 biolink:NamedThing hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses phenio_relaxed_subqs.owl MONDO:0010265 biolink:NamedThing Simpson-Golabi-Behmel syndrome type 2 Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported. phenio_relaxed_subqs.owl MONDO:0010267 biolink:NamedThing episodic muscle weakness, X-linked phenio_relaxed_subqs.owl MONDO:0010276 biolink:NamedThing radioulnar synostosis, radial ray abnormalities, and severe malformations in the male phenio_relaxed_subqs.owl MONDO:0010292 biolink:NamedThing Uruguay Faciocardiomusculoskeletal syndrome phenio_relaxed_subqs.owl MONDO:0010312 biolink:NamedThing radial ray deficiency, X-linked phenio_relaxed_subqs.owl MONDO:0010331 biolink:NamedThing coronary heart disease, susceptibility to, 3 phenio_relaxed_subqs.owl MONDO:0010380 biolink:NamedThing cataract, ataxia, short stature, and intellectual disability phenio_relaxed_subqs.owl MONDO:0010381 biolink:NamedThing Tn polyagglutination syndrome phenio_relaxed_subqs.owl MONDO:0010414 biolink:NamedThing myopathy, reducing body, X-linked, early-onset, severe phenio_relaxed_subqs.owl MONDO:0010415 biolink:NamedThing myopathy, reducing body, X-linked, childhood-onset phenio_relaxed_subqs.owl MONDO:0010416 biolink:NamedThing deafness, cataract, retinitis pigmentosa, and sperm abnormalities phenio_relaxed_subqs.owl MONDO:0010439 biolink:NamedThing cardiomyopathy, fatal fetal, due to myocardial calcification phenio_relaxed_subqs.owl MONDO:0010515 biolink:NamedThing Meester-Loeys syndrome phenio_relaxed_subqs.owl MONDO:0010536 biolink:NamedThing tubulin, beta phenio_relaxed_subqs.owl MONDO:0010546 biolink:NamedThing central incisors, absence of phenio_relaxed_subqs.owl MONDO:0010552 biolink:NamedThing Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita phenio_relaxed_subqs.owl MONDO:0010553 biolink:NamedThing Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined phenio_relaxed_subqs.owl MONDO:0010573 biolink:NamedThing cutis verticis gyrata, thyroid aplasia, and intellectual disability phenio_relaxed_subqs.owl MONDO:0010580 biolink:NamedThing immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. phenio_relaxed_subqs.owl MONDO:0010594 biolink:NamedThing inherited genitourinary tract anomalies phenio_relaxed_subqs.owl MONDO:0010597 biolink:NamedThing glutamyl ribose-5-phosphate storage disease phenio_relaxed_subqs.owl MONDO:0010599 biolink:NamedThing granulomas, congenital cerebral phenio_relaxed_subqs.owl MONDO:0010605 biolink:NamedThing hemopoietic proliferation phenio_relaxed_subqs.owl MONDO:0010608 biolink:NamedThing Hhhh syndrome phenio_relaxed_subqs.owl MONDO:0010623 biolink:NamedThing ichthyosis and male hypogonadism phenio_relaxed_subqs.owl MONDO:0010628 biolink:NamedThing immunoglobulin M, level of phenio_relaxed_subqs.owl MONDO:0010629 biolink:NamedThing impacted teeth, multiple phenio_relaxed_subqs.owl MONDO:0010630 biolink:NamedThing imprinting gene related to retinoblastoma phenio_relaxed_subqs.owl MONDO:0010634 biolink:NamedThing jaundice, familial obstructive, of infancy phenio_relaxed_subqs.owl MONDO:0010636 biolink:NamedThing Kallmann syndrome with spastic paraplegia phenio_relaxed_subqs.owl MONDO:0010644 biolink:NamedThing proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis phenio_relaxed_subqs.owl MONDO:0010673 biolink:NamedThing modifier, X-linked, for Neurofunctional defects phenio_relaxed_subqs.owl MONDO:0010681 biolink:NamedThing myelolymphatic insufficiency phenio_relaxed_subqs.owl MONDO:0010687 biolink:NamedThing nephrolithiasis, X-linked recessive, with renal failure phenio_relaxed_subqs.owl MONDO:0010692 biolink:NamedThing nuclear ribonucleic acid phenio_relaxed_subqs.owl MONDO:0010695 biolink:NamedThing occipital hair, white lock of phenio_relaxed_subqs.owl MONDO:0010696 biolink:NamedThing omphalocele, X-linked phenio_relaxed_subqs.owl MONDO:0010697 biolink:NamedThing ophthalmoplegia, external, and myopia phenio_relaxed_subqs.owl MONDO:0010700 biolink:NamedThing optic atrophy--spastic paraplegia syndrome phenio_relaxed_subqs.owl MONDO:0010707 biolink:NamedThing Paine syndrome phenio_relaxed_subqs.owl MONDO:0010719 biolink:NamedThing radiation sensitivity of natural killer activity phenio_relaxed_subqs.owl MONDO:0010721 biolink:NamedThing reticuloendotheliosis, X-linked phenio_relaxed_subqs.owl MONDO:0010734 biolink:NamedThing spatial visualization, aptitude for phenio_relaxed_subqs.owl MONDO:0010739 biolink:NamedThing Taqi polymorphism phenio_relaxed_subqs.owl MONDO:0010740 biolink:NamedThing taurodontism, microdontia, and dens invaginatus phenio_relaxed_subqs.owl MONDO:0010744 biolink:NamedThing thrombocytopenia with elevated serum IgA and renal disease phenio_relaxed_subqs.owl MONDO:0010746 biolink:NamedThing thumbs, congenital Clasped phenio_relaxed_subqs.owl MONDO:0010751 biolink:NamedThing unique green phenomenon phenio_relaxed_subqs.owl MONDO:0010753 biolink:NamedThing cardiac valvular dysplasia, X-linked phenio_relaxed_subqs.owl MONDO:0010757 biolink:NamedThing widow's peak syndrome phenio_relaxed_subqs.owl MONDO:0010760 biolink:NamedThing XH antigen phenio_relaxed_subqs.owl MONDO:0010769 biolink:NamedThing hairy ears, Y-linked phenio_relaxed_subqs.owl MONDO:0010770 biolink:NamedThing ubiquitin-activating enzyme, Y-linked phenio_relaxed_subqs.owl MONDO:0010776 biolink:NamedThing hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial phenio_relaxed_subqs.owl MONDO:0010777 biolink:NamedThing cardiomyopathy, infantile hypertrophic phenio_relaxed_subqs.owl MONDO:0010784 biolink:NamedThing chloramphenicol toxicity phenio_relaxed_subqs.owl MONDO:0010793 biolink:NamedThing nephropathy, chronic tubulointerstitial phenio_relaxed_subqs.owl MONDO:0010803 biolink:NamedThing Eiken syndrome Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family. phenio_relaxed_subqs.owl MONDO:0010812 biolink:NamedThing macrocytosis, familial phenio_relaxed_subqs.owl MONDO:0010813 biolink:NamedThing pancreatic beta cell agenesis with neonatal diabetes mellitus phenio_relaxed_subqs.owl MONDO:0010815 biolink:NamedThing spondyloepiphyseal dysplasia tarda with characteristic facies phenio_relaxed_subqs.owl MONDO:0010838 biolink:NamedThing gonadal agenesis A congenital disorder characterized by the complete absence of gonadal tissue. phenio_relaxed_subqs.owl MONDO:0010853 biolink:NamedThing Helicobacter pylori infection, susceptibility to phenio_relaxed_subqs.owl MONDO:0010871 biolink:NamedThing succinic acidemia phenio_relaxed_subqs.owl MONDO:0010872 biolink:NamedThing parotid salivary glands, polycystic dysgenetic disease of phenio_relaxed_subqs.owl MONDO:0010874 biolink:NamedThing enteropathy, familial, with villous edema and immunoglobulin G2 deficiency phenio_relaxed_subqs.owl MONDO:0010875 biolink:NamedThing pachydermodactyly, familial phenio_relaxed_subqs.owl MONDO:0010885 biolink:NamedThing angiokeratoma corporis diffusum with arteriovenous fistulas phenio_relaxed_subqs.owl MONDO:0010896 biolink:NamedThing pigment dispersion syndrome Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance. At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed. phenio_relaxed_subqs.owl MONDO:0010904 biolink:NamedThing setting-Sun phenomenon, familial benign phenio_relaxed_subqs.owl MONDO:0010910 biolink:NamedThing enuresis, nocturnal, 1 Nocturnal enuresis with at least 3 nightly episodes in children older than 7 years, where the child has always had the disorder. phenio_relaxed_subqs.owl MONDO:0010919 biolink:NamedThing varicella, severe recurrent phenio_relaxed_subqs.owl MONDO:0010923 biolink:NamedThing proximal myopathy with focal depletion of mitochondria phenio_relaxed_subqs.owl MONDO:0010928 biolink:NamedThing dwarfism, familial, with muscle spasms phenio_relaxed_subqs.owl MONDO:0010937 biolink:NamedThing isoproterenol-mediated vasodilatation phenio_relaxed_subqs.owl MONDO:0010940 biolink:NamedThing inherited susceptibility to asthma phenio_relaxed_subqs.owl MONDO:0010941 biolink:NamedThing nocturnal enuresis, 2 Nocturnal enuresis where the child has been dry for at least 6 months but enuresis has recurred. phenio_relaxed_subqs.owl MONDO:0010944 biolink:NamedThing mitochondrial import-stimulating factor phenio_relaxed_subqs.owl MONDO:0010955 biolink:NamedThing ectodermal dysplasia with intellectual disability and syndactyly phenio_relaxed_subqs.owl MONDO:0010956 biolink:NamedThing enamel hypoplasia, cataracts, and aqueductal stenosis phenio_relaxed_subqs.owl MONDO:0010957 biolink:NamedThing agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations phenio_relaxed_subqs.owl MONDO:0010960 biolink:NamedThing protocadherin 3 phenio_relaxed_subqs.owl MONDO:0010970 biolink:NamedThing cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies phenio_relaxed_subqs.owl MONDO:0010978 biolink:NamedThing portal vein, cavernous transformation of phenio_relaxed_subqs.owl MONDO:0010980 biolink:NamedThing midline malformations, multiple, with limb abnormalities and hypopituitarism phenio_relaxed_subqs.owl MONDO:0010982 biolink:NamedThing ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin phenio_relaxed_subqs.owl MONDO:0011000 biolink:NamedThing guanylate cyclase 2E phenio_relaxed_subqs.owl MONDO:0011005 biolink:NamedThing trisomy 18-like syndrome phenio_relaxed_subqs.owl MONDO:0011009 biolink:NamedThing muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers phenio_relaxed_subqs.owl MONDO:0011014 biolink:NamedThing pleuropulmonary blastoma A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas. phenio_relaxed_subqs.owl MONDO:0011018 biolink:NamedThing brachyolmia-amelogenesis imperfecta syndrome An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition. phenio_relaxed_subqs.owl MONDO:0011020 biolink:NamedThing osteoporosis-oculocutaneous hypopigmentation syndrome Osteoporosis-oculocutaneous hypopigmentation syndrome is characterised by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive. phenio_relaxed_subqs.owl MONDO:0011029 biolink:NamedThing myeloid tumor suppressor phenio_relaxed_subqs.owl MONDO:0011030 biolink:NamedThing epithelial basolateral chloride conductance regulator, rabbit, homolog of phenio_relaxed_subqs.owl MONDO:0011037 biolink:NamedThing renal dysplasia, cystic, susceptibility to phenio_relaxed_subqs.owl MONDO:0011039 biolink:NamedThing atrophia maculosa varioliformis cutis, familial phenio_relaxed_subqs.owl MONDO:0011040 biolink:NamedThing spinal dysplasia, Anhalt type phenio_relaxed_subqs.owl MONDO:0011042 biolink:NamedThing Martinez-Frias syndrome phenio_relaxed_subqs.owl MONDO:0011043 biolink:NamedThing myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay phenio_relaxed_subqs.owl MONDO:0011044 biolink:NamedThing ectrodactyly of lower limbs, congenital heart defect, and micrognathia phenio_relaxed_subqs.owl MONDO:0011046 biolink:NamedThing short stature, Brussels type This syndrome is characterised by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism. phenio_relaxed_subqs.owl MONDO:0011051 biolink:NamedThing lethal short-limb skeletal dysplasia, Al Gazali type phenio_relaxed_subqs.owl MONDO:0011052 biolink:NamedThing amelia cleft lip palate hydrocephalus iris coloboma phenio_relaxed_subqs.owl MONDO:0011069 biolink:NamedThing cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction phenio_relaxed_subqs.owl MONDO:0011077 biolink:NamedThing microcephaly, corpus callosum dysgenesis, and cleft lip/palate phenio_relaxed_subqs.owl MONDO:0011078 biolink:NamedThing anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995. phenio_relaxed_subqs.owl MONDO:0011089 biolink:NamedThing patent ductus venosus phenio_relaxed_subqs.owl MONDO:0011092 biolink:NamedThing ribbing disease Ribbing disease is a rare bone disease that causes bony growths on the long bones, such as the thigh bone and shine bone.Ribbing diseaseaffects women more frequently than men. The most common symptom is pain. A single studyof 14 patients found an association between Ribbing disease and impaired exercise tolerance and changes in heart function (i.e., increased prevalence of arrhythmia and changes in left ventricular systolic and diastolic function).The cause of the condition iscurrently unknown, although some cases appear to be genetic and inherited in an autosomal recessive fashion.Optimal treatment for the disease is largely unknown. There have been case reports describingtreatment of Ribbing diseasewith bisphosphonate pamidronate. Results have been mixed. The conditionoften resolves on its own; howevercases of progressive disease have been described. phenio_relaxed_subqs.owl MONDO:0011100 biolink:NamedThing microcephaly, retinitis pigmentosa, and sutural cataract phenio_relaxed_subqs.owl MONDO:0011106 biolink:NamedThing facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs. phenio_relaxed_subqs.owl MONDO:0011115 biolink:NamedThing spastic paraplegia and Evans syndrome phenio_relaxed_subqs.owl MONDO:0011117 biolink:NamedThing iris pigment epithelium anomalies phenio_relaxed_subqs.owl MONDO:0011126 biolink:NamedThing acute insulin response phenio_relaxed_subqs.owl MONDO:0011130 biolink:NamedThing sebaceous gland hyperplasia, familial presenile phenio_relaxed_subqs.owl MONDO:0011135 biolink:NamedThing superior transverse scapular ligament, calcification of, familial phenio_relaxed_subqs.owl MONDO:0011141 biolink:NamedThing megaloblastic anemia, folate-responsive phenio_relaxed_subqs.owl MONDO:0011148 biolink:NamedThing Spondylospinal thoracic dysostosis Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized bya short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth.This condition is believed to be inherited in an autosomal recessive manner.It does notappear to be compatible with life. phenio_relaxed_subqs.owl MONDO:0011150 biolink:NamedThing acroosteolysis-keloid-like lesions-premature aging syndrome phenio_relaxed_subqs.owl MONDO:0011155 biolink:NamedThing vacuolar Neuromyopathy phenio_relaxed_subqs.owl MONDO:0011161 biolink:NamedThing sperm-specific antigen 1 phenio_relaxed_subqs.owl MONDO:0011172 biolink:NamedThing otofacioosseous-gonadal syndrome phenio_relaxed_subqs.owl MONDO:0011174 biolink:NamedThing hyperzincemia with functional zinc depletion phenio_relaxed_subqs.owl MONDO:0011179 biolink:NamedThing leishmaniasis, tegumentary, susceptibility to phenio_relaxed_subqs.owl MONDO:0011180 biolink:NamedThing broad terminal phalanges, familial phenio_relaxed_subqs.owl MONDO:0011198 biolink:NamedThing spondyloepimetaphyseal dysplasia, Missouri type Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. phenio_relaxed_subqs.owl MONDO:0011205 biolink:NamedThing medium chain 3-ketoacyl-Coa thiolase deficiency phenio_relaxed_subqs.owl MONDO:0011206 biolink:NamedThing ventriculomegaly with defects of the radius and kidney phenio_relaxed_subqs.owl MONDO:0011209 biolink:NamedThing progeroid facial appearance with hand anomalies phenio_relaxed_subqs.owl MONDO:0011210 biolink:NamedThing mitochondrial intermembrane space protein Tim12, yeast, homolog of phenio_relaxed_subqs.owl MONDO:0011212 biolink:NamedThing sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth phenio_relaxed_subqs.owl MONDO:0011215 biolink:NamedThing osteocraniostenosis Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization. phenio_relaxed_subqs.owl MONDO:0011221 biolink:NamedThing Weyers ulnar ray/oligodactyly syndrome phenio_relaxed_subqs.owl MONDO:0011228 biolink:NamedThing creases, infra-auricular cutaneous, with tall stature and advanced bone age phenio_relaxed_subqs.owl MONDO:0011241 biolink:NamedThing pseudoacromegaly with severe insulin resistance phenio_relaxed_subqs.owl MONDO:0011247 biolink:NamedThing jejunal atresia with renal adysplasia phenio_relaxed_subqs.owl MONDO:0011250 biolink:NamedThing microcephaly, macrotia, and intellectual disability phenio_relaxed_subqs.owl MONDO:0011251 biolink:NamedThing facial dysmorphism, cleft palate, hearing loss, and camptodactyly phenio_relaxed_subqs.owl MONDO:0011254 biolink:NamedThing brachydactyly, intraventricular septal defect, and deafness phenio_relaxed_subqs.owl MONDO:0011256 biolink:NamedThing emphysema, congenital, with deafness, penoscrotal web, and intellectual disability phenio_relaxed_subqs.owl MONDO:0011260 biolink:NamedThing pancreatic lymphoma, familial An instance of pancreas lymphoma that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0011263 biolink:NamedThing skeletal dysplasia and progressive central nervous system degeneration, lethal phenio_relaxed_subqs.owl MONDO:0011267 biolink:NamedThing intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration phenio_relaxed_subqs.owl MONDO:0011282 biolink:NamedThing tumor suppressor gene on chromosome 11 phenio_relaxed_subqs.owl MONDO:0011288 biolink:NamedThing spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal phenio_relaxed_subqs.owl MONDO:0011289 biolink:NamedThing apraxia of eyelid opening phenio_relaxed_subqs.owl MONDO:0011290 biolink:NamedThing dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability phenio_relaxed_subqs.owl MONDO:0011306 biolink:NamedThing muscular dystrophy, congenital, with cerebellar atrophy phenio_relaxed_subqs.owl MONDO:0011308 biolink:NamedThing GRACILE syndrome GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E). phenio_relaxed_subqs.owl MONDO:0011310 biolink:NamedThing long chain fatty acids, defect in transport of phenio_relaxed_subqs.owl MONDO:0011315 biolink:NamedThing Osebold skeletal dysplasia/osteolysis syndrome phenio_relaxed_subqs.owl MONDO:0011316 biolink:NamedThing osteosclerotic chondrodysplasia, lethal, with intracellular inclusions phenio_relaxed_subqs.owl MONDO:0011317 biolink:NamedThing microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects phenio_relaxed_subqs.owl MONDO:0011318 biolink:NamedThing Tonoki syndrome phenio_relaxed_subqs.owl MONDO:0011321 biolink:NamedThing expansile bone lesions phenio_relaxed_subqs.owl MONDO:0011322 biolink:NamedThing Oroacral syndrome, Verloes-Koulischer type phenio_relaxed_subqs.owl MONDO:0011323 biolink:NamedThing arhinia, choanal atresia, and microphthalmia phenio_relaxed_subqs.owl MONDO:0011332 biolink:NamedThing Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin phenio_relaxed_subqs.owl MONDO:0011333 biolink:NamedThing light fixation seizure syndrome phenio_relaxed_subqs.owl MONDO:0011341 biolink:NamedThing microcephaly, facial abnormalities, micromelia, and intellectual disability phenio_relaxed_subqs.owl MONDO:0011343 biolink:NamedThing follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts phenio_relaxed_subqs.owl MONDO:0011344 biolink:NamedThing parotitis, juvenile recurrent phenio_relaxed_subqs.owl MONDO:0011345 biolink:NamedThing facial dysmorphism, selective tooth agenesis, and choroid calcification phenio_relaxed_subqs.owl MONDO:0011349 biolink:NamedThing osteoma of cranial vault, familial phenio_relaxed_subqs.owl MONDO:0011352 biolink:NamedThing neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia phenio_relaxed_subqs.owl MONDO:0011353 biolink:NamedThing atrial septal defect, secundum, with various cardiac and Noncardiac defects phenio_relaxed_subqs.owl MONDO:0011356 biolink:NamedThing exostosis, Dupuytren subungual phenio_relaxed_subqs.owl MONDO:0011357 biolink:NamedThing eccrine syringofibroadenomatosis with eyelid abnormalities phenio_relaxed_subqs.owl MONDO:0011358 biolink:NamedThing blue nevi, familial multiple phenio_relaxed_subqs.owl MONDO:0011361 biolink:NamedThing prostate cancer/brain cancer susceptibility phenio_relaxed_subqs.owl MONDO:0011367 biolink:NamedThing Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia A hereditary disorder characterized by disproportionate short stature, a relatively large head, and a long triangular face early in life. This phenotype later evolves to one with in which the head is relatively small, the mandible is large and pointy. The affected individuals have normal cognitive abilities and lack any neurological deficits. Other typical features include a prominent nose, a voice with an unusual high-pitched sound, relatively small ears, curved digits (clinodactyly), short bones in fingers and toes (brachydactyly), small hands, underdeveloped (hypoplastic) fingernails, a waddling gait, and sparse hair post-pubertally. phenio_relaxed_subqs.owl MONDO:0011373 biolink:NamedThing urinary tract infections, recurrent, susceptibility to phenio_relaxed_subqs.owl MONDO:0011385 biolink:NamedThing intervertebral disc degenerative disorder Any disease of a degenerative nature that affects the intervertebral disc. phenio_relaxed_subqs.owl MONDO:0011404 biolink:NamedThing Caronte phenio_relaxed_subqs.owl MONDO:0011406 biolink:NamedThing cholesteatoma, congenital phenio_relaxed_subqs.owl MONDO:0011410 biolink:NamedThing Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly phenio_relaxed_subqs.owl MONDO:0011419 biolink:NamedThing camera-Marugo-Cohen syndrome phenio_relaxed_subqs.owl MONDO:0011427 biolink:NamedThing Ascaris lumbricoides infection, susceptibility to phenio_relaxed_subqs.owl MONDO:0011433 biolink:NamedThing anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome phenio_relaxed_subqs.owl MONDO:0011446 biolink:NamedThing myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders phenio_relaxed_subqs.owl MONDO:0011453 biolink:NamedThing ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia phenio_relaxed_subqs.owl MONDO:0011455 biolink:NamedThing lissencephaly, familial, with cleft palate and cerebellar hypoplasia phenio_relaxed_subqs.owl MONDO:0011478 biolink:NamedThing growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia phenio_relaxed_subqs.owl MONDO:0011483 biolink:NamedThing polycystic bone disease phenio_relaxed_subqs.owl MONDO:0011492 biolink:NamedThing mandibulofacial dysostosis syndrome, Bauru type phenio_relaxed_subqs.owl MONDO:0011494 biolink:NamedThing hyaluronan metabolism, defect 1N phenio_relaxed_subqs.owl MONDO:0011501 biolink:NamedThing wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999. phenio_relaxed_subqs.owl MONDO:0011507 biolink:NamedThing diabetes mellitus, congenital autoimmune phenio_relaxed_subqs.owl MONDO:0011509 biolink:NamedThing low density lipoprotein cholesterol, mild elevation of phenio_relaxed_subqs.owl MONDO:0011511 biolink:NamedThing clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia phenio_relaxed_subqs.owl MONDO:0011514 biolink:NamedThing tricuspid atresia Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV). phenio_relaxed_subqs.owl MONDO:0011516 biolink:NamedThing early response to neural induction gene phenio_relaxed_subqs.owl MONDO:0011538 biolink:NamedThing frontoocular syndrome phenio_relaxed_subqs.owl MONDO:0011550 biolink:NamedThing fibromatosis, gingival, with hypertrichosis and intellectual disability phenio_relaxed_subqs.owl MONDO:0011574 biolink:NamedThing tetralogy of fallot syndrome, autosomal recessive phenio_relaxed_subqs.owl MONDO:0011577 biolink:NamedThing myopathy, proximal, and ophthalmoplegia phenio_relaxed_subqs.owl MONDO:0011590 biolink:NamedThing anisomastia phenio_relaxed_subqs.owl MONDO:0011594 biolink:NamedThing ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis phenio_relaxed_subqs.owl MONDO:0011611 biolink:NamedThing short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting phenio_relaxed_subqs.owl MONDO:0011617 biolink:NamedThing arthropathy, erosive phenio_relaxed_subqs.owl MONDO:0011618 biolink:NamedThing liver fibrocystic disease and polydactyly phenio_relaxed_subqs.owl MONDO:0011619 biolink:NamedThing crumpled helices and small mouth phenio_relaxed_subqs.owl MONDO:0011620 biolink:NamedThing metaphyseal dysplasia, Braun-Tinschert type Metaphyseal dysplasia, Braun-Tinschert type is characterised by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions. phenio_relaxed_subqs.owl MONDO:0011626 biolink:NamedThing acromegaloid features, overgrowth, cleft palate, and hernia phenio_relaxed_subqs.owl MONDO:0011637 biolink:NamedThing Sener syndrome phenio_relaxed_subqs.owl MONDO:0011641 biolink:NamedThing baculum, congenital absence of phenio_relaxed_subqs.owl MONDO:0011642 biolink:NamedThing carnitine acetyltransferase deficiency A disease arising from a defect of carnitine acetyltransferase causing disruption of whole-body glucose homeostasis and muscle-specific loss of function results in reduced metabolic control, which resembles the insulin resistant state. phenio_relaxed_subqs.owl MONDO:0011646 biolink:NamedThing laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy phenio_relaxed_subqs.owl MONDO:0011651 biolink:NamedThing intellectual disability, short stature, facial anomalies, and joint dislocations phenio_relaxed_subqs.owl MONDO:0011654 biolink:NamedThing intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism phenio_relaxed_subqs.owl MONDO:0011655 biolink:NamedThing alveolar soft part sarcoma An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh. phenio_relaxed_subqs.owl MONDO:0011662 biolink:NamedThing pathological gambling A disorder characterized by a preoccupation with gambling and the excitement that gambling with increasing risk provides. Pathological gamblers are unable to cut back on their gambling, despite the fact that it may lead them to lie, steal, or lose a significant relationship, job, or educational opportunity. phenio_relaxed_subqs.owl MONDO:0011672 biolink:NamedThing persistent polyclonal B-cell lymphocytosis Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly. phenio_relaxed_subqs.owl MONDO:0011677 biolink:NamedThing Megarbane syndrome phenio_relaxed_subqs.owl MONDO:0011684 biolink:NamedThing vitiligo-associated multiple autoimmune disease susceptibility 1 phenio_relaxed_subqs.owl MONDO:0011685 biolink:NamedThing polysubstance abuse, susceptibility to phenio_relaxed_subqs.owl MONDO:0011714 biolink:NamedThing partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome phenio_relaxed_subqs.owl MONDO:0011726 biolink:NamedThing peripheral arterial occlusive disease 1 phenio_relaxed_subqs.owl MONDO:0011727 biolink:NamedThing anorexia nervosa, susceptibility to, 1 phenio_relaxed_subqs.owl MONDO:0011729 biolink:NamedThing stroke, susceptibility to, 1 phenio_relaxed_subqs.owl MONDO:0011733 biolink:NamedThing parasomnia, sleep bruxism type phenio_relaxed_subqs.owl MONDO:0011734 biolink:NamedThing Cardioneuromyopathy with hyaline masses and nemaline rods phenio_relaxed_subqs.owl MONDO:0011736 biolink:NamedThing Cree intellectual disability syndrome phenio_relaxed_subqs.owl MONDO:0011745 biolink:NamedThing duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery phenio_relaxed_subqs.owl MONDO:0011746 biolink:NamedThing symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch phenio_relaxed_subqs.owl MONDO:0011751 biolink:NamedThing COPD, severe early onset phenio_relaxed_subqs.owl MONDO:0011763 biolink:NamedThing T-box 24 phenio_relaxed_subqs.owl MONDO:0011773 biolink:NamedThing anauxetic dysplasia A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. phenio_relaxed_subqs.owl MONDO:0011779 biolink:NamedThing laryngeal atresia, encephalocele, and limb deformities phenio_relaxed_subqs.owl MONDO:0011796 biolink:NamedThing epilepsy, partial, with pericentral spikes phenio_relaxed_subqs.owl MONDO:0011798 biolink:NamedThing hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration phenio_relaxed_subqs.owl MONDO:0011806 biolink:NamedThing osteofibrous dysplasia A benign, usually self-limited fibro-osseous lesion of the bone that affects infants and children. It usually arises from the cortical bone of the anterior mid-shaft of the tibia. Patients usually present with swelling or painless bowing of the tibia. Progression to adamantinoma has been reported in some cases. phenio_relaxed_subqs.owl MONDO:0011810 biolink:NamedThing horizontal gaze palsy with progressive scoliosis Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla. phenio_relaxed_subqs.owl MONDO:0011817 biolink:NamedThing coronary heart disease, susceptibility to, 1 Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene. phenio_relaxed_subqs.owl MONDO:0011825 biolink:NamedThing streptococcus, group A, severity of infection by phenio_relaxed_subqs.owl MONDO:0011836 biolink:NamedThing thyroid Hurthle cell carcinoma phenio_relaxed_subqs.owl MONDO:0011848 biolink:NamedThing headache associated with sexual activity phenio_relaxed_subqs.owl MONDO:0011853 biolink:NamedThing Camptosynpolydactyly, complex phenio_relaxed_subqs.owl MONDO:0011854 biolink:NamedThing secretory diarrhea, myopathy, and deafness phenio_relaxed_subqs.owl MONDO:0011858 biolink:NamedThing spastic paraplegia, ataxia, and intellectual disability phenio_relaxed_subqs.owl MONDO:0011861 biolink:NamedThing breath-holding Spells phenio_relaxed_subqs.owl MONDO:0011863 biolink:NamedThing prostate cancer aggressiveness quantitative trait locus on chromosome 19 phenio_relaxed_subqs.owl MONDO:0011867 biolink:NamedThing microphthalmia with cyst, bilateral facial clefts, and limb anomalies phenio_relaxed_subqs.owl MONDO:0011878 biolink:NamedThing Worth syndrome A hyperostosis that has material basis in a mutation in the LRP5 gene which results in increased bone density and bony structures located in palate. phenio_relaxed_subqs.owl MONDO:0011887 biolink:NamedThing cataract, congenital, with mental impairment and dentate gyrus atrophy phenio_relaxed_subqs.owl MONDO:0011907 biolink:NamedThing acrocapitofemoral dysplasia Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax. phenio_relaxed_subqs.owl MONDO:0011922 biolink:NamedThing nonimmune chronic idiopathic neutropenia of adults phenio_relaxed_subqs.owl MONDO:0011928 biolink:NamedThing caudal duplication Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents. phenio_relaxed_subqs.owl MONDO:0011949 biolink:NamedThing Thai symphalangism syndrome phenio_relaxed_subqs.owl MONDO:0011958 biolink:NamedThing bile and pancreatic ducts, complete absence of phenio_relaxed_subqs.owl MONDO:0011972 biolink:NamedThing ovarian hyperstimulation syndrome A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries. phenio_relaxed_subqs.owl MONDO:0011973 biolink:NamedThing zinc deficiency, transient neonatal phenio_relaxed_subqs.owl MONDO:0011993 biolink:NamedThing aspirin resistance phenio_relaxed_subqs.owl MONDO:0012001 biolink:NamedThing mandibulofacial dysostosis with ptosis, autosomal dominant phenio_relaxed_subqs.owl MONDO:0012004 biolink:NamedThing parathyroid gland carcinoma Parathyroid carcinoma (PRTC) is a very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors. phenio_relaxed_subqs.owl MONDO:0012005 biolink:NamedThing growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy phenio_relaxed_subqs.owl MONDO:0012007 biolink:NamedThing scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities phenio_relaxed_subqs.owl MONDO:0012009 biolink:NamedThing coronary heart disease, susceptibility to, 2 phenio_relaxed_subqs.owl MONDO:0012010 biolink:NamedThing coronary heart disease, susceptibility to, 4 phenio_relaxed_subqs.owl MONDO:0012011 biolink:NamedThing coronary artery disease, autosomal dominant, 1 Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene. phenio_relaxed_subqs.owl MONDO:0012019 biolink:NamedThing spondyloepiphyseal dysplasia, Kimberley type Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy. phenio_relaxed_subqs.owl MONDO:0012038 biolink:NamedThing speech-sound disorder phenio_relaxed_subqs.owl MONDO:0012047 biolink:NamedThing alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia phenio_relaxed_subqs.owl MONDO:0012058 biolink:NamedThing myocardial infarction, susceptibility to, 2 phenio_relaxed_subqs.owl MONDO:0012068 biolink:NamedThing brachial palsy, familial congenital phenio_relaxed_subqs.owl MONDO:0012075 biolink:NamedThing oligodontia-cancer predisposition syndrome phenio_relaxed_subqs.owl MONDO:0012076 biolink:NamedThing midface hypoplasia, obesity, developmental delay, and neonatal hypotonia phenio_relaxed_subqs.owl MONDO:0012107 biolink:NamedThing neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia phenio_relaxed_subqs.owl MONDO:0012108 biolink:NamedThing spondyloepimetaphyseal dysplasia, matrilin-3 type Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands. phenio_relaxed_subqs.owl MONDO:0012110 biolink:NamedThing growth delay due to insulin-like growth factor type 1 deficiency Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit. phenio_relaxed_subqs.owl MONDO:0012124 biolink:NamedThing sudden infant death-dysgenesis of the testes syndrome Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes. phenio_relaxed_subqs.owl MONDO:0012129 biolink:NamedThing leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema phenio_relaxed_subqs.owl MONDO:0012131 biolink:NamedThing metaphyseal undermodeling, spondylar dysplasia, and overgrowth phenio_relaxed_subqs.owl MONDO:0012133 biolink:NamedThing lateral semicircular canal malformation, familial, with external and middle ear abnormalities phenio_relaxed_subqs.owl MONDO:0012164 biolink:NamedThing Meacham syndrome Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. phenio_relaxed_subqs.owl MONDO:0012171 biolink:NamedThing marfanoid habitus with situs inversus phenio_relaxed_subqs.owl MONDO:0012174 biolink:NamedThing peripheral cone dystrophy phenio_relaxed_subqs.owl MONDO:0012176 biolink:NamedThing Emanuel syndrome Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities. phenio_relaxed_subqs.owl MONDO:0012178 biolink:NamedThing intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature phenio_relaxed_subqs.owl MONDO:0012182 biolink:NamedThing skeletal dysplasia, rhizomelic, with retinitis pigmentosa phenio_relaxed_subqs.owl MONDO:0012207 biolink:NamedThing umbilicus, familial flat phenio_relaxed_subqs.owl MONDO:0012217 biolink:NamedThing Bruck syndrome 2 Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene. phenio_relaxed_subqs.owl MONDO:0012218 biolink:NamedThing dandy-walker malformation with occipital cephalocele, autosomal dominant phenio_relaxed_subqs.owl MONDO:0012223 biolink:NamedThing hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate phenio_relaxed_subqs.owl MONDO:0012242 biolink:NamedThing syncope, familial vasovagal phenio_relaxed_subqs.owl MONDO:0012243 biolink:NamedThing B-cell immunodeficiency, distal limb anomalies, and urogenital malformations phenio_relaxed_subqs.owl MONDO:0012259 biolink:NamedThing colloid cysts of third ventricle Colloid cysts of the third ventricle are non-cancerous brain lesions. The third ventricle is a cavity in the brain that is filled with cerebral spinal fluid (CSF). Colloid cysts can cause blockages resulting in a build up of CSF in the brain (hydrocephalus) and increased pressure. Some colloid cysts are asymptomatic while others cause neurological symptoms, such as headaches, swelling of the optic nerve (papilledema), and drop attacks. When symptoms are present onset tends to be in the third to sixth decade of life. While uncommon, symptoms of colloid cyst can become life threatening. phenio_relaxed_subqs.owl MONDO:0012272 biolink:NamedThing intellectual disability, keratoconus, febrile seizures, and sinoatrial block phenio_relaxed_subqs.owl MONDO:0012283 biolink:NamedThing cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss phenio_relaxed_subqs.owl MONDO:0012284 biolink:NamedThing nephropathy, progressive, with deafness phenio_relaxed_subqs.owl MONDO:0012288 biolink:NamedThing iridogoniodysgenesis and skeletal anomalies phenio_relaxed_subqs.owl MONDO:0012298 biolink:NamedThing omphalocele, diaphragmatic hernia, and radial ray defects phenio_relaxed_subqs.owl MONDO:0012311 biolink:NamedThing spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness phenio_relaxed_subqs.owl MONDO:0012325 biolink:NamedThing Nguyen syndrome phenio_relaxed_subqs.owl MONDO:0012328 biolink:NamedThing trichilemmal cyst phenio_relaxed_subqs.owl MONDO:0012329 biolink:NamedThing short stature and Facioauriculothoracic malformations phenio_relaxed_subqs.owl MONDO:0012332 biolink:NamedThing short stature-delayed bone age due to thyroid hormone metabolism deficiency Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported. phenio_relaxed_subqs.owl MONDO:0012347 biolink:NamedThing hamartoma, Precalcaneal congenital fibrolipomatous phenio_relaxed_subqs.owl MONDO:0012352 biolink:NamedThing vasculitis, lymphocytic, cutaneous small vessel phenio_relaxed_subqs.owl MONDO:0012373 biolink:NamedThing ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features phenio_relaxed_subqs.owl MONDO:0012374 biolink:NamedThing brachyphalangy, polydactyly, and tibial aplasia/hypoplasia phenio_relaxed_subqs.owl MONDO:0012385 biolink:NamedThing metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands phenio_relaxed_subqs.owl MONDO:0012386 biolink:NamedThing trichoscyphodysplasia phenio_relaxed_subqs.owl MONDO:0012390 biolink:NamedThing arthrogryposis multiplex with deafness, inguinal hernias, and early death phenio_relaxed_subqs.owl MONDO:0012397 biolink:NamedThing brachydactyly, coloboma, and anterior segment dysgenesis phenio_relaxed_subqs.owl MONDO:0012401 biolink:NamedThing congenital stromal corneal dystrophy Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss. phenio_relaxed_subqs.owl MONDO:0012402 biolink:NamedThing opioid dependence, susceptibility to, 1 phenio_relaxed_subqs.owl MONDO:0012416 biolink:NamedThing Devriendt syndrome phenio_relaxed_subqs.owl MONDO:0012428 biolink:NamedThing kyphoscoliosis 1 phenio_relaxed_subqs.owl MONDO:0012431 biolink:NamedThing diaphragmatic hernia 3 Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene. phenio_relaxed_subqs.owl MONDO:0012451 biolink:NamedThing esophagitis, eosinophilic, 1 phenio_relaxed_subqs.owl MONDO:0012454 biolink:NamedThing alcohol sensitivity, acute Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate. The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment. phenio_relaxed_subqs.owl MONDO:0012468 biolink:NamedThing rhizomelic dysplasia, scoliosis, and retinitis pigmentosa phenio_relaxed_subqs.owl MONDO:0012473 biolink:NamedThing right pulmonary artery, anomalous origin of, familial phenio_relaxed_subqs.owl MONDO:0012486 biolink:NamedThing preauricular tag, isolated, autosomal dominant, 1 phenio_relaxed_subqs.owl MONDO:0012488 biolink:NamedThing hepatitis B virus, susceptibility to phenio_relaxed_subqs.owl MONDO:0012494 biolink:NamedThing testicular microlithiasis phenio_relaxed_subqs.owl MONDO:0012495 biolink:NamedThing spondyloepimetaphyseal dysplasia, Genevieve type Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips. phenio_relaxed_subqs.owl MONDO:0012499 biolink:NamedThing Buruli ulcer, susceptibility to phenio_relaxed_subqs.owl MONDO:0012511 biolink:NamedThing preterm premature rupture of the membranes A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation. phenio_relaxed_subqs.owl MONDO:0012524 biolink:NamedThing corticosterone methyloxidase type 2 deficiency phenio_relaxed_subqs.owl MONDO:0012535 biolink:NamedThing holoprosencephaly, recurrent infections, and monocytosis phenio_relaxed_subqs.owl MONDO:0012550 biolink:NamedThing iris pattern phenio_relaxed_subqs.owl MONDO:0012558 biolink:NamedThing epiphyseal dysplasia, Baumann type phenio_relaxed_subqs.owl MONDO:0012564 biolink:NamedThing Polyosteolysis-hyperostosis syndrome phenio_relaxed_subqs.owl MONDO:0012572 biolink:NamedThing Sakoda complex phenio_relaxed_subqs.owl MONDO:0012586 biolink:NamedThing coronary artery disease, autosomal dominant 2 Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene. phenio_relaxed_subqs.owl MONDO:0012590 biolink:NamedThing XFE progeroid syndrome A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13. phenio_relaxed_subqs.owl MONDO:0012628 biolink:NamedThing coronary heart disease, susceptibility to, 8 phenio_relaxed_subqs.owl MONDO:0012634 biolink:NamedThing craniofacial dysplasia - osteopenia syndrome phenio_relaxed_subqs.owl MONDO:0012657 biolink:NamedThing Mungan syndrome phenio_relaxed_subqs.owl MONDO:0012668 biolink:NamedThing Tented eyebrows phenio_relaxed_subqs.owl MONDO:0012675 biolink:NamedThing corticosteroid-binding globulin deficiency Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists. phenio_relaxed_subqs.owl MONDO:0012687 biolink:NamedThing familial cavitary optic disc anomaly phenio_relaxed_subqs.owl MONDO:0012692 biolink:NamedThing renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies phenio_relaxed_subqs.owl MONDO:0012711 biolink:NamedThing peripapillary atrophy, beta type phenio_relaxed_subqs.owl MONDO:0012712 biolink:NamedThing dystonia with cerebellar atrophy phenio_relaxed_subqs.owl MONDO:0012720 biolink:NamedThing Krabbe disease, atypical, due to saposin A deficiency phenio_relaxed_subqs.owl MONDO:0012722 biolink:NamedThing Dauwerse-Peters syndrome phenio_relaxed_subqs.owl MONDO:0012727 biolink:NamedThing mucocutaneous lymph node syndrome Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood. phenio_relaxed_subqs.owl MONDO:0012732 biolink:NamedThing tremor, hereditary essential, and idiopathic normal pressure hydrocephalus phenio_relaxed_subqs.owl MONDO:0012749 biolink:NamedThing mesomelic dysplasia, camera type phenio_relaxed_subqs.owl MONDO:0012772 biolink:NamedThing Stevenson-Carey syndrome phenio_relaxed_subqs.owl MONDO:0012773 biolink:NamedThing Hunter-Macdonald syndrome phenio_relaxed_subqs.owl MONDO:0012788 biolink:NamedThing coronary heart disease, susceptibility to, 9 phenio_relaxed_subqs.owl MONDO:0012795 biolink:NamedThing hypophosphatemic rickets and hyperparathyroidism phenio_relaxed_subqs.owl MONDO:0012798 biolink:NamedThing deafness, unilateral, with delayed endolymphatic hydrops phenio_relaxed_subqs.owl MONDO:0012809 biolink:NamedThing histiocytoma, Angiomatoid fibrous A low malignant potential soft tissue neoplasm of uncertain differentiation. It typically affects young patients, presenting as a slowly growing nodular or cystic tumor mass, most often in the subcutaneous tissues of the extremities. Occasionally, patients have systemic symptoms (anemia, fever, and weight loss). This tumor has a relatively good prognosis. A minority of patients develop local recurrences. Metastases are rare. phenio_relaxed_subqs.owl MONDO:0012814 biolink:NamedThing diastasis recti and weakness of the linea alba phenio_relaxed_subqs.owl MONDO:0012817 biolink:NamedThing Ewing sarcoma A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms. phenio_relaxed_subqs.owl MONDO:0012865 biolink:NamedThing Pseudofolliculitis barbae phenio_relaxed_subqs.owl MONDO:0012909 biolink:NamedThing skeletal defects, genital hypoplasia, and intellectual disability phenio_relaxed_subqs.owl MONDO:0012929 biolink:NamedThing Compton-North congenital myopathy phenio_relaxed_subqs.owl MONDO:0012998 biolink:NamedThing faciocardiomelic syndrome phenio_relaxed_subqs.owl MONDO:0013004 biolink:NamedThing hypotonia, seizures, and precocious puberty phenio_relaxed_subqs.owl MONDO:0013009 biolink:NamedThing Megarbane-Jalkh syndrome phenio_relaxed_subqs.owl MONDO:0013014 biolink:NamedThing spondyloepimetaphyseal dysplasia, aggrecan type Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings. phenio_relaxed_subqs.owl MONDO:0013037 biolink:NamedThing Giacheti syndrome phenio_relaxed_subqs.owl MONDO:0013054 biolink:NamedThing microcephaly, growth retardation, cataract, hearing loss, and unusual appearance phenio_relaxed_subqs.owl MONDO:0013055 biolink:NamedThing Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features phenio_relaxed_subqs.owl MONDO:0013077 biolink:NamedThing Santos syndrome phenio_relaxed_subqs.owl MONDO:0013088 biolink:NamedThing follicular lymphoma, susceptibility to, 1 phenio_relaxed_subqs.owl MONDO:0013113 biolink:NamedThing metaphyseal anadysplasia 2 Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene. phenio_relaxed_subqs.owl MONDO:0013149 biolink:NamedThing hydrops fetalis, nonimmune, with gracile bones and dysmorphic features phenio_relaxed_subqs.owl MONDO:0013189 biolink:NamedThing trichotillomania A disorder characterized by repetitive pulling out of one's hair resulting in noticeable hair loss; the individual experiences a rising subjective sense of tension before pulling out the hair and a sense of gratification or relief when pulling out the hair. phenio_relaxed_subqs.owl MONDO:0013194 biolink:NamedThing Pseudopili annulati phenio_relaxed_subqs.owl MONDO:0013213 biolink:NamedThing hearing loss, cisplatin-induced, susceptibility to phenio_relaxed_subqs.owl MONDO:0013214 biolink:NamedThing bile acid malabsorption, primary phenio_relaxed_subqs.owl MONDO:0013228 biolink:NamedThing spondylo-megaepiphyseal-metaphyseal dysplasia phenio_relaxed_subqs.owl MONDO:0013251 biolink:NamedThing Birbeck granule deficiency phenio_relaxed_subqs.owl MONDO:0013260 biolink:NamedThing esophagitis, eosinophilic, 2 phenio_relaxed_subqs.owl MONDO:0013276 biolink:NamedThing Reynolds syndrome Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc). phenio_relaxed_subqs.owl MONDO:0013318 biolink:NamedThing early repolarization associated with ventricular fibrillation phenio_relaxed_subqs.owl MONDO:0013321 biolink:NamedThing forsythe-wakeling syndrome phenio_relaxed_subqs.owl MONDO:0013330 biolink:NamedThing agenesis of the corpus callosum and congenital lymphedema phenio_relaxed_subqs.owl MONDO:0013332 biolink:NamedThing brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability phenio_relaxed_subqs.owl MONDO:0013333 biolink:NamedThing odontoid hypoplasia An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations. phenio_relaxed_subqs.owl MONDO:0013334 biolink:NamedThing cocoon syndrome Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported. phenio_relaxed_subqs.owl MONDO:0013335 biolink:NamedThing tuberculin skin test reactivity, absence of phenio_relaxed_subqs.owl MONDO:0013353 biolink:NamedThing intellectual disability, anterior maxillary protrusion, and strabismus phenio_relaxed_subqs.owl MONDO:0013374 biolink:NamedThing supernumerary der(22)t(8;22) syndrome phenio_relaxed_subqs.owl MONDO:0013400 biolink:NamedThing Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels. phenio_relaxed_subqs.owl MONDO:0013461 biolink:NamedThing inosine triphosphatase deficiency An inherited condition caused by mutation(s) in the ITPA gene, encoding inosine triphosphate pyrophosphatase. It is characterized by elevated concentrations of inosine triphosphate in erythrocytes. phenio_relaxed_subqs.owl MONDO:0013462 biolink:NamedThing fucosyltransferase 6 deficiency phenio_relaxed_subqs.owl MONDO:0013473 biolink:NamedThing Hirschsprung disease, cardiac defects, and autonomic dysfunction phenio_relaxed_subqs.owl MONDO:0013483 biolink:NamedThing obesity, hyperphagia, and developmental delay phenio_relaxed_subqs.owl MONDO:0013488 biolink:NamedThing lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis phenio_relaxed_subqs.owl MONDO:0013493 biolink:NamedThing acetyl-coa carboxylase deficiency phenio_relaxed_subqs.owl MONDO:0013497 biolink:NamedThing Okt4 epitope deficiency phenio_relaxed_subqs.owl MONDO:0013511 biolink:NamedThing cyanosis, transient neonatal phenio_relaxed_subqs.owl MONDO:0013532 biolink:NamedThing protein Z deficiency phenio_relaxed_subqs.owl MONDO:0013535 biolink:NamedThing hydroxyacyl glutathione hydrolase deficiency phenio_relaxed_subqs.owl MONDO:0013543 biolink:NamedThing trypsinogen deficiency phenio_relaxed_subqs.owl MONDO:0013548 biolink:NamedThing acetyl-CoA acetyltransferase-2 deficiency phenio_relaxed_subqs.owl MONDO:0013549 biolink:NamedThing N-acetylaspartate deficiency phenio_relaxed_subqs.owl MONDO:0013561 biolink:NamedThing chondrodysplasia with joint dislocations, gPAPP type phenio_relaxed_subqs.owl MONDO:0013564 biolink:NamedThing anhaptoglobinemia phenio_relaxed_subqs.owl MONDO:0013575 biolink:NamedThing plasma fibronectin deficiency phenio_relaxed_subqs.owl MONDO:0013595 biolink:NamedThing hyperbiliverdinemia Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported. phenio_relaxed_subqs.owl MONDO:0013598 biolink:NamedThing myostatin-related muscle hypertrophy Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance. phenio_relaxed_subqs.owl MONDO:0013618 biolink:NamedThing craniofacial anomalies and anterior segment dysgenesis syndrome phenio_relaxed_subqs.owl MONDO:0013659 biolink:NamedThing microcephaly-capillary malformation syndrome phenio_relaxed_subqs.owl MONDO:0013660 biolink:NamedThing arthrogryposis, Perthes disease, and upward gaze palsy phenio_relaxed_subqs.owl MONDO:0013663 biolink:NamedThing platelet-activating factor acetylhydrolase deficiency phenio_relaxed_subqs.owl MONDO:0013680 biolink:NamedThing cognitive impairment with or without cerebellar ataxia phenio_relaxed_subqs.owl MONDO:0013730 biolink:NamedThing graft versus host disease Acute graft-versus-host disease (GVHD) occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen. phenio_relaxed_subqs.owl MONDO:0013731 biolink:NamedThing MEGF10-Related Myopathy phenio_relaxed_subqs.owl MONDO:0013732 biolink:NamedThing glucocorticoid therapy, response to phenio_relaxed_subqs.owl MONDO:0013787 biolink:NamedThing psychomotor retardation, epilepsy, and craniofacial dysmorphism phenio_relaxed_subqs.owl MONDO:0013793 biolink:NamedThing encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency phenio_relaxed_subqs.owl MONDO:0013809 biolink:NamedThing cerebellar ataxia, neuropathy, and vestibular areflexia syndrome phenio_relaxed_subqs.owl MONDO:0013814 biolink:NamedThing podoconiosis, susceptibility to phenio_relaxed_subqs.owl MONDO:0013815 biolink:NamedThing FGFR2-related bent bone dysplasia phenio_relaxed_subqs.owl MONDO:0013843 biolink:NamedThing intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Any meconium ileus in which the cause of the disease is a mutation in the GUCY2C gene. phenio_relaxed_subqs.owl MONDO:0013846 biolink:NamedThing peripartum cardiomyopathy, susceptibility to phenio_relaxed_subqs.owl MONDO:0013856 biolink:NamedThing hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes phenio_relaxed_subqs.owl MONDO:0013857 biolink:NamedThing alar cleft, isolated phenio_relaxed_subqs.owl MONDO:0013873 biolink:NamedThing IMAGe syndrome IMAGe syndrome is characterized by the association of intrauterine growth retardation, metaphyseal dysplasia (and short limbs), adrenal hypoplasia congenita, and genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait. phenio_relaxed_subqs.owl MONDO:0013889 biolink:NamedThing short stature-optic atrophy-Pelger-HuC+t anomaly syndrome phenio_relaxed_subqs.owl MONDO:0013894 biolink:NamedThing short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome phenio_relaxed_subqs.owl MONDO:0013909 biolink:NamedThing human herpesvirus 8, susceptibility to phenio_relaxed_subqs.owl MONDO:0013941 biolink:NamedThing metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay. phenio_relaxed_subqs.owl MONDO:0013988 biolink:NamedThing congenital heart defects, multiple types, 3 phenio_relaxed_subqs.owl MONDO:0014000 biolink:NamedThing congenital heart defects, multiple types, 2 Any congenital heart malformation in which the cause of the disease is a mutation in the TAB2 gene. phenio_relaxed_subqs.owl MONDO:0014008 biolink:NamedThing phosphohydroxylysinuria phenio_relaxed_subqs.owl MONDO:0014058 biolink:NamedThing facial dysmorphism-immunodeficiency-livedo-short stature syndrome A rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer. phenio_relaxed_subqs.owl MONDO:0014061 biolink:NamedThing Steel syndrome A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described. phenio_relaxed_subqs.owl MONDO:0014220 biolink:NamedThing myopathy due to myoadenylate deaminase deficiency phenio_relaxed_subqs.owl MONDO:0014241 biolink:NamedThing leukemia, acute lymphoblastic, susceptibility to, 3 Any precursor B-cell acute lymphoblastic leukemia in which the cause of the disease is a mutation in the PAX5 gene. phenio_relaxed_subqs.owl MONDO:0014249 biolink:NamedThing multiple fibroadenoma of the breast Mammary polyadenomatosis is characterised by the presence in both breasts of multiple voluminous fibroadenomas with heterogeneous echo patterns. phenio_relaxed_subqs.owl MONDO:0014255 biolink:NamedThing complement factor b deficiency phenio_relaxed_subqs.owl MONDO:0014274 biolink:NamedThing L-ferritin deficiency phenio_relaxed_subqs.owl MONDO:0014347 biolink:NamedThing short stature with microcephaly and distinctive facies phenio_relaxed_subqs.owl MONDO:0014404 biolink:NamedThing Webb-Dattani syndrome phenio_relaxed_subqs.owl MONDO:0014415 biolink:NamedThing kallikrein, decreased urinary activity of phenio_relaxed_subqs.owl MONDO:0014420 biolink:NamedThing short stature due to primary acid-labile subunit deficiency Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity. phenio_relaxed_subqs.owl MONDO:0014448 biolink:NamedThing hyperthyroxinemia, familial dysalbuminemic An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum thyroxine; (T4) in euthyroid patients with abnormal serum albumin that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and tsh are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the alb gene on chromosome 4. phenio_relaxed_subqs.owl MONDO:0014449 biolink:NamedThing congenital analbuminemia Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA). phenio_relaxed_subqs.owl MONDO:0014519 biolink:NamedThing chronic mountain sickness, susceptibility to phenio_relaxed_subqs.owl MONDO:0014535 biolink:NamedThing hyperproinsulinemia phenio_relaxed_subqs.owl MONDO:0014551 biolink:NamedThing short stature with nonspecific skeletal abnormalities phenio_relaxed_subqs.owl MONDO:0014553 biolink:NamedThing Tenorio syndrome phenio_relaxed_subqs.owl MONDO:0014556 biolink:NamedThing congenital contractures of the limbs and face, hypotonia, and developmental delay A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases. phenio_relaxed_subqs.owl MONDO:0014629 biolink:NamedThing autoimmune interstitial lung disease-arthritis syndrome A respiratory disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease. phenio_relaxed_subqs.owl MONDO:0014704 biolink:NamedThing skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome phenio_relaxed_subqs.owl MONDO:0014766 biolink:NamedThing leukodystrophy and acquired microcephaly with or without dystonia; phenio_relaxed_subqs.owl MONDO:0014772 biolink:NamedThing orofacial cleft 15 Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene. phenio_relaxed_subqs.owl MONDO:0014778 biolink:NamedThing Lamb-Shaffer syndrome phenio_relaxed_subqs.owl MONDO:0014784 biolink:NamedThing severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size. phenio_relaxed_subqs.owl MONDO:0014791 biolink:NamedThing Luscan-Lumish syndrome phenio_relaxed_subqs.owl MONDO:0014795 biolink:NamedThing exercise intolerance, riboflavin-responsive phenio_relaxed_subqs.owl MONDO:0014811 biolink:NamedThing cerebellar atrophy, visual impairment, and psychomotor retardation; phenio_relaxed_subqs.owl MONDO:0014821 biolink:NamedThing complex lethal osteochondrodysplasia phenio_relaxed_subqs.owl MONDO:0014833 biolink:NamedThing heart and brain malformation syndrome phenio_relaxed_subqs.owl MONDO:0014834 biolink:NamedThing dyskinesia, limb and orofacial, infantile-onset phenio_relaxed_subqs.owl MONDO:0014839 biolink:NamedThing chorea, childhood-onset, with psychomotor retardation phenio_relaxed_subqs.owl MONDO:0014850 biolink:NamedThing retinitis pigmentosa and erythrocytic microcytosis phenio_relaxed_subqs.owl MONDO:0014863 biolink:NamedThing macrocephaly, dysmorphic facies, and psychomotor retardation phenio_relaxed_subqs.owl MONDO:0014888 biolink:NamedThing MIRAGE syndrome An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy. phenio_relaxed_subqs.owl MONDO:0014931 biolink:NamedThing Alazami-Yuan syndrome phenio_relaxed_subqs.owl MONDO:0014940 biolink:NamedThing neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset phenio_relaxed_subqs.owl MONDO:0014946 biolink:NamedThing Sifrim-Hitz-Weiss syndrome phenio_relaxed_subqs.owl MONDO:0014948 biolink:NamedThing short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay phenio_relaxed_subqs.owl MONDO:0014956 biolink:NamedThing Chitayat syndrome phenio_relaxed_subqs.owl MONDO:0014957 biolink:NamedThing language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia phenio_relaxed_subqs.owl MONDO:0014958 biolink:NamedThing Harel-Yoon syndrome phenio_relaxed_subqs.owl MONDO:0014963 biolink:NamedThing Shashi-Pena syndrome phenio_relaxed_subqs.owl MONDO:0014968 biolink:NamedThing encephalopathy, progressive, with amyotrophy and optic atrophy phenio_relaxed_subqs.owl MONDO:0014973 biolink:NamedThing sudden cardiac failure, infantile phenio_relaxed_subqs.owl MONDO:0014974 biolink:NamedThing sudden cardiac failure, alcohol-induced phenio_relaxed_subqs.owl MONDO:0014979 biolink:NamedThing myoclonus, intractable, neonatal phenio_relaxed_subqs.owl MONDO:0014980 biolink:NamedThing cone-rod dystrophy and hearing loss phenio_relaxed_subqs.owl MONDO:0014984 biolink:NamedThing lung disease, immunodeficiency, and chromosome breakage syndrome; phenio_relaxed_subqs.owl MONDO:0014994 biolink:NamedThing global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies phenio_relaxed_subqs.owl MONDO:0015014 biolink:NamedThing coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness phenio_relaxed_subqs.owl MONDO:0015019 biolink:NamedThing susceptibility to Yao syndrome phenio_relaxed_subqs.owl MONDO:0015021 biolink:NamedThing hypotonia, ataxia, and delayed development syndrome phenio_relaxed_subqs.owl MONDO:0015022 biolink:NamedThing intellectual developmental disorder with dysmorphic facies and ptosis phenio_relaxed_subqs.owl MONDO:0015084 biolink:NamedThing FRAXF syndrome FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established. phenio_relaxed_subqs.owl MONDO:0015110 biolink:NamedThing genetic cardiac rhythm disease An instance of cardiac rhythm disease that is caused by a modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0015168 biolink:NamedThing arthrogryposis multiplex congenita Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures. phenio_relaxed_subqs.owl MONDO:0015278 biolink:NamedThing familial pancreatic carcinoma Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives. phenio_relaxed_subqs.owl MONDO:0015356 biolink:NamedThing hereditary neoplastic syndrome The inherited predisposition toward getting a tumor. phenio_relaxed_subqs.owl MONDO:0015375 biolink:NamedThing orofaciodigital syndrome Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait. phenio_relaxed_subqs.owl MONDO:0015426 biolink:NamedThing Desbuquois dysplasia Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies. phenio_relaxed_subqs.owl MONDO:0015486 biolink:NamedThing keratoconus A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances. phenio_relaxed_subqs.owl MONDO:0015509 biolink:NamedThing genetic biliary tract disease Genetic biliary tract disease. phenio_relaxed_subqs.owl MONDO:0015512 biolink:NamedThing genetic hypertension An instance of hypertension that is caused by a modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0015799 biolink:NamedThing Smith-McCort dysplasia Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC. phenio_relaxed_subqs.owl MONDO:0015855 biolink:NamedThing isolated congenital breast hypoplasia/aplasia phenio_relaxed_subqs.owl MONDO:0015999 biolink:NamedThing primary pigmented nodular adrenocortical disease A form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter). phenio_relaxed_subqs.owl MONDO:0016068 biolink:NamedThing fibrochondrogenesis Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported. phenio_relaxed_subqs.owl MONDO:0016070 biolink:NamedThing hereditary gingival fibromatosis Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome. phenio_relaxed_subqs.owl MONDO:0016072 biolink:NamedThing anomaly of puberty or/and menstrual cycle of genetic origin An instance of anomaly of puberty or/and menstrual cycle that is caused by a modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0016073 biolink:NamedThing syndromic microphthalmia A microphthalmia that is part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0016165 biolink:NamedThing genetic hypoparathyroidism Genetic hypoparathyroidism. phenio_relaxed_subqs.owl MONDO:0016166 biolink:NamedThing genetic hyperparathyroidism Genetic hyperparathyroidism. phenio_relaxed_subqs.owl MONDO:0016229 biolink:NamedThing genetic vascular anomaly An instance of vascular anomaly that is caused by a modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0016248 biolink:NamedThing familial ovarian cancer An instance of ovarian cancer that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0016419 biolink:NamedThing hereditary breast carcinoma Breast carcinoma that has developed in relatives of patients with history of breast carcinoma. phenio_relaxed_subqs.owl MONDO:0016516 biolink:NamedThing Kenny-Caffey syndrome A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia. phenio_relaxed_subqs.owl MONDO:0016525 biolink:NamedThing familial hyperaldosteronism Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol. phenio_relaxed_subqs.owl MONDO:0016620 biolink:NamedThing primary hypertrophic osteoarthropathy A genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy. phenio_relaxed_subqs.owl MONDO:0016624 biolink:NamedThing inherited deficiency anemia phenio_relaxed_subqs.owl MONDO:0016648 biolink:NamedThing multiple epiphyseal dysplasia Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6. phenio_relaxed_subqs.owl MONDO:0016763 biolink:NamedThing spondylometaphyseal dysplasia Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. phenio_relaxed_subqs.owl MONDO:0017127 biolink:NamedThing inherited soft tissue tumor An instance of mesenchymal cell neoplasm that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0017128 biolink:NamedThing inherited digestive tract tumor phenio_relaxed_subqs.owl MONDO:0017129 biolink:NamedThing inherited cardiac tumor An instance of heart cancer that is caused by a modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0017136 biolink:NamedThing omodysplasia Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. phenio_relaxed_subqs.owl MONDO:0017143 biolink:NamedThing genetic infertility Genetic infertility. phenio_relaxed_subqs.owl MONDO:0017169 biolink:NamedThing multiple endocrine neoplasia Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs. phenio_relaxed_subqs.owl MONDO:0017329 biolink:NamedThing familial vesicoureteral reflux Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible. phenio_relaxed_subqs.owl MONDO:0017400 biolink:NamedThing hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated. phenio_relaxed_subqs.owl MONDO:0017436 biolink:NamedThing lethal congenital contracture syndrome A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. phenio_relaxed_subqs.owl MONDO:0017838 biolink:NamedThing sclerosteosis Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure. phenio_relaxed_subqs.owl MONDO:0017896 biolink:NamedThing familial nonmedullary thyroid carcinoma Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting. phenio_relaxed_subqs.owl MONDO:0018174 biolink:NamedThing hereditary glaucoma Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities. phenio_relaxed_subqs.owl MONDO:0018188 biolink:NamedThing genetic intestinal polyposis phenio_relaxed_subqs.owl MONDO:0018203 biolink:NamedThing LMNA-related cardiocutaneous progeria syndrome A rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies. phenio_relaxed_subqs.owl MONDO:0018309 biolink:NamedThing Hirschsprung disease Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon. phenio_relaxed_subqs.owl MONDO:0018383 biolink:NamedThing osteonecrosis of genetic origin An instance of osteonecrosis that is caused by a modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0018454 biolink:NamedThing dysostosis of genetic origin An instance of dysostosis that is caused by a modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0018470 biolink:NamedThing renal agenesis Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s). phenio_relaxed_subqs.owl MONDO:0018555 biolink:NamedThing hypogonadotropic hypogonadism Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis. phenio_relaxed_subqs.owl MONDO:0018677 biolink:NamedThing visceral heterotaxy A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton. phenio_relaxed_subqs.owl MONDO:0018751 biolink:NamedThing genetic otorhinolaryngologic disease An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0018870 biolink:NamedThing arterial calcification of infancy Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries. phenio_relaxed_subqs.owl MONDO:0018943 biolink:NamedThing myofibrillar myopathy Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients. phenio_relaxed_subqs.owl MONDO:0018947 biolink:NamedThing centronuclear myopathy Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy. phenio_relaxed_subqs.owl MONDO:0018958 biolink:NamedThing nemaline myopathy Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy. phenio_relaxed_subqs.owl MONDO:0019019 biolink:NamedThing osteogenesis imperfecta Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity. phenio_relaxed_subqs.owl MONDO:0019040 biolink:NamedThing chromosomal disorder Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) phenio_relaxed_subqs.owl MONDO:0019050 biolink:NamedThing inherited hemoglobinopathy An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule. phenio_relaxed_subqs.owl MONDO:0019052 biolink:NamedThing inborn errors of metabolism An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function. phenio_relaxed_subqs.owl MONDO:0019117 biolink:NamedThing genetic nervous system disorder An instance of nervous system disease that is caused by a modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0019165 biolink:NamedThing central precocious puberty Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys). phenio_relaxed_subqs.owl MONDO:0019443 biolink:NamedThing dextro-looped transposition of the great arteries Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance. phenio_relaxed_subqs.owl MONDO:0019503 biolink:NamedThing anterior segment dysgenesis A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis). phenio_relaxed_subqs.owl MONDO:0019507 biolink:NamedThing amelogenesis imperfecta Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body. phenio_relaxed_subqs.owl MONDO:0019625 biolink:NamedThing familial thoracic aortic aneurysm and aortic dissection A rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture. phenio_relaxed_subqs.owl MONDO:0019648 biolink:NamedThing achondrogenesis Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2. phenio_relaxed_subqs.owl MONDO:0019666 biolink:NamedThing spondyloepimetaphyseal dysplasia, PAPSS2 type Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. phenio_relaxed_subqs.owl MONDO:0019675 biolink:NamedThing spondyloepimetaphyseal dysplasia with joint laxity A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment. phenio_relaxed_subqs.owl MONDO:0019696 biolink:NamedThing acromesomelic dysplasia A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type phenio_relaxed_subqs.owl MONDO:0019719 biolink:NamedThing congenital anomaly of kidney and urinary tract A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux. phenio_relaxed_subqs.owl MONDO:0019741 biolink:NamedThing familial cystic renal disease An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0019942 biolink:NamedThing distal arthrogryposis A muscle tissue disease characterized by congenital joint contractures of hand and feet. phenio_relaxed_subqs.owl MONDO:0020099 biolink:NamedThing inherited sideroblastic anemia phenio_relaxed_subqs.owl MONDO:0020246 biolink:NamedThing inherited vitreoretinopathy phenio_relaxed_subqs.owl MONDO:0020290 biolink:NamedThing atrioventricular septal defect A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves. phenio_relaxed_subqs.owl MONDO:0020364 biolink:NamedThing posterior polymorphous corneal dystrophy Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision. phenio_relaxed_subqs.owl MONDO:0020523 biolink:NamedThing familial parathyroid adenoma An instance of parathyroid gland adenoma that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0020602 biolink:NamedThing Simpson-Golabi-Behmel syndrome type 1 Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene. phenio_relaxed_subqs.owl MONDO:0020647 biolink:NamedThing microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome phenio_relaxed_subqs.owl MONDO:0020718 biolink:NamedThing congenital short bowel syndrome 1 phenio_relaxed_subqs.owl MONDO:0020732 biolink:NamedThing progeria phenio_relaxed_subqs.owl MONDO:0020772 biolink:NamedThing epilepsy, juvenile absence, susceptibility to, 1 phenio_relaxed_subqs.owl MONDO:0020774 biolink:NamedThing Menke-Hennekam syndrome phenio_relaxed_subqs.owl MONDO:0020792 biolink:NamedThing dwarfism with tall vertebrae phenio_relaxed_subqs.owl MONDO:0020840 biolink:NamedThing pulmonary alveolar proteinosis with hypogammaglobulinemia phenio_relaxed_subqs.owl MONDO:0020853 biolink:NamedThing encephalitis/encephalopathy, mild, with reversible myelin vacuolization phenio_relaxed_subqs.owl MONDO:0020937 biolink:NamedThing contractures, pterygia, and variable skeletal fusions syndrome phenio_relaxed_subqs.owl MONDO:0021094 biolink:NamedThing immunodeficiency disease Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. phenio_relaxed_subqs.owl MONDO:0021181 biolink:NamedThing inherited blood coagulation disorder Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation. phenio_relaxed_subqs.owl MONDO:0023003 biolink:NamedThing double fingernail of fifth finger phenio_relaxed_subqs.owl MONDO:0023121 biolink:NamedThing familial partial paralysis phenio_relaxed_subqs.owl MONDO:0023122 biolink:NamedThing familial prostate carcinoma Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma. phenio_relaxed_subqs.owl MONDO:0023696 biolink:NamedThing Marinesco-Sjogren-like syndrome A disease with similar features to Marinesco-Sjogren syndrome. phenio_relaxed_subqs.owl MONDO:0023880 biolink:NamedThing WHIM syndrome phenio_relaxed_subqs.owl MONDO:0023910 biolink:NamedThing Martsolf syndrome phenio_relaxed_subqs.owl MONDO:0023961 biolink:NamedThing visceral neuropathy, familial phenio_relaxed_subqs.owl MONDO:0024189 biolink:NamedThing neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset phenio_relaxed_subqs.owl MONDO:0024193 biolink:NamedThing portal hypertension, noncirrhotic phenio_relaxed_subqs.owl MONDO:0024255 biolink:NamedThing genetic skin disease An instance of skin disease that is caused by a modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0024633 biolink:NamedThing hypertensive nephropathy Kidney damage that results from chronically elevated blood pressure; complications include glomerular damage resulting in proteinuria and hematuria. phenio_relaxed_subqs.owl MONDO:0025351 biolink:NamedThing multiple congenital anomalies-neurodevelopmental syndrome, x-linked phenio_relaxed_subqs.owl MONDO:0025356 biolink:NamedThing azoospermia, obstructive, with nephrolithiasis phenio_relaxed_subqs.owl MONDO:0025986 biolink:NamedThing megacystis-microcolon-intestinal hypoperistalsis syndrome phenio_relaxed_subqs.owl MONDO:0026722 biolink:NamedThing Mullegama-Klein-Martinez syndrome phenio_relaxed_subqs.owl MONDO:0026727 biolink:NamedThing Shukla-Vernon syndrome phenio_relaxed_subqs.owl MONDO:0027749 biolink:NamedThing serpinopathy phenio_relaxed_subqs.owl MONDO:0029131 biolink:NamedThing peripheral neuropathy, autosomal recessive, with or without impaired intellectual development phenio_relaxed_subqs.owl MONDO:0029143 biolink:NamedThing intellectual developmental disorder with hypertelorism and distinctive facies phenio_relaxed_subqs.owl MONDO:0029144 biolink:NamedThing extraoral halitosis due to methanethiol oxidase deficiency phenio_relaxed_subqs.owl MONDO:0030005 biolink:NamedThing epilepsy, early-onset, with or without developmental delay phenio_relaxed_subqs.owl MONDO:0030012 biolink:NamedThing Diets-Jongmans syndrome phenio_relaxed_subqs.owl MONDO:0030018 biolink:NamedThing autoinflammation with episodic fever and lymphadenopathy phenio_relaxed_subqs.owl MONDO:0030026 biolink:NamedThing retinal dystrophy with leukodystrophy phenio_relaxed_subqs.owl MONDO:0030028 biolink:NamedThing neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline phenio_relaxed_subqs.owl MONDO:0030029 biolink:NamedThing skeletal dysplasia, mild, with joint laxity and advanced bone age phenio_relaxed_subqs.owl MONDO:0030030 biolink:NamedThing Nizon-Isidor syndrome phenio_relaxed_subqs.owl MONDO:0030033 biolink:NamedThing seizures, early-onset, with neurodegeneration and brain calcifications phenio_relaxed_subqs.owl MONDO:0030035 biolink:NamedThing leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome phenio_relaxed_subqs.owl MONDO:0030036 biolink:NamedThing leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome phenio_relaxed_subqs.owl MONDO:0030038 biolink:NamedThing glaucoma, primary closed-angle phenio_relaxed_subqs.owl MONDO:0030042 biolink:NamedThing proteinuria, chronic benign phenio_relaxed_subqs.owl MONDO:0030045 biolink:NamedThing Liberfarb syndrome A progressive disorder involving connective tissue, bone, retina, ear, and brain, characterized by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature. phenio_relaxed_subqs.owl MONDO:0030047 biolink:NamedThing microcephaly, developmental delay, and brittle hair syndrome phenio_relaxed_subqs.owl MONDO:0030048 biolink:NamedThing harderoporphyria phenio_relaxed_subqs.owl MONDO:0030049 biolink:NamedThing 46,xx sex reversal 5 phenio_relaxed_subqs.owl MONDO:0030051 biolink:NamedThing intellectual developmental disorder with autistic features and language delay, with or without seizures phenio_relaxed_subqs.owl MONDO:0030055 biolink:NamedThing sorbitol dehydrogenase deficiency with peripheral neuropathy phenio_relaxed_subqs.owl MONDO:0030057 biolink:NamedThing neurodevelopmental, jaw, eye, and digital syndrome phenio_relaxed_subqs.owl MONDO:0030065 biolink:NamedThing agenesis of corpus callosum, cardiac, ocular, and genital syndrome phenio_relaxed_subqs.owl MONDO:0030071 biolink:NamedThing retinitis pigmentosa 89 phenio_relaxed_subqs.owl MONDO:0030073 biolink:NamedThing Mitchell syndrome phenio_relaxed_subqs.owl MONDO:0030074 biolink:NamedThing spondylometaphyseal dysplasia with corneal dystrophy phenio_relaxed_subqs.owl MONDO:0030639 biolink:NamedThing Teebi hypertelorism syndrome phenio_relaxed_subqs.owl MONDO:0030796 biolink:NamedThing leukoencephalopathy, hereditary diffuse, with spheroids phenio_relaxed_subqs.owl MONDO:0030831 biolink:NamedThing gastrointestinal defect and immunodeficiency syndrome phenio_relaxed_subqs.owl MONDO:0030835 biolink:NamedThing developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy phenio_relaxed_subqs.owl MONDO:0030849 biolink:NamedThing intellectual developmental disorder with speech delay and axonal peripheral neuropathy phenio_relaxed_subqs.owl MONDO:0030871 biolink:NamedThing vertebral hypersegmentation and orofacial anomalies phenio_relaxed_subqs.owl MONDO:0030873 biolink:NamedThing cardiofacioneurodevelopmental syndrome phenio_relaxed_subqs.owl MONDO:0030878 biolink:NamedThing Kaya-Barakat-Masson syndrome phenio_relaxed_subqs.owl MONDO:0030880 biolink:NamedThing mandibuloacral dysplasia progeroid syndrome phenio_relaxed_subqs.owl MONDO:0030893 biolink:NamedThing leukoencephalopathy, progressive, infantile-onset, with or without deafness phenio_relaxed_subqs.owl MONDO:0030897 biolink:NamedThing Lessel-Kreienkamp syndrome phenio_relaxed_subqs.owl MONDO:0030900 biolink:NamedThing intellectual developmental disorder with paroxysmal dyskinesia or seizures phenio_relaxed_subqs.owl MONDO:0030947 biolink:NamedThing neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities phenio_relaxed_subqs.owl MONDO:0030963 biolink:NamedThing Li-Campeau syndrome phenio_relaxed_subqs.owl MONDO:0030966 biolink:NamedThing neurofacioskeletal syndrome with or without renal agenesis phenio_relaxed_subqs.owl MONDO:0030967 biolink:NamedThing deafness, congenital, and adult-onset progressive leukoencephalopathy phenio_relaxed_subqs.owl MONDO:0030976 biolink:NamedThing oculomotor-abducens synkinesis phenio_relaxed_subqs.owl MONDO:0030977 biolink:NamedThing neuropathy, hereditary motor, with myopathic features phenio_relaxed_subqs.owl MONDO:0030978 biolink:NamedThing endove syndrome, limb-only type phenio_relaxed_subqs.owl MONDO:0030979 biolink:NamedThing endove syndrome, limb-brain type phenio_relaxed_subqs.owl MONDO:0030986 biolink:NamedThing blistering, acantholytic, of oral and laryngeal mucosa phenio_relaxed_subqs.owl MONDO:0030987 biolink:NamedThing vertebral, cardiac, tracheoesophageal, renal, and limb defects phenio_relaxed_subqs.owl MONDO:0030988 biolink:NamedThing developmental delay with dysmorphic facies and dental anomalies phenio_relaxed_subqs.owl MONDO:0030990 biolink:NamedThing Kohlschutter-Tonz syndrome-like phenio_relaxed_subqs.owl MONDO:0030991 biolink:NamedThing bile acid conjugation defect 1 phenio_relaxed_subqs.owl MONDO:0030992 biolink:NamedThing short stature, oligodontia, dysmorphic facies, and motor delay phenio_relaxed_subqs.owl MONDO:0030995 biolink:NamedThing global developmental delay with speech and behavioral abnormalities phenio_relaxed_subqs.owl MONDO:0031001 biolink:NamedThing vitreoretinopathy with phalangeal epiphyseal dysplasia phenio_relaxed_subqs.owl MONDO:0031002 biolink:NamedThing Baralle-Macken syndrome phenio_relaxed_subqs.owl MONDO:0031006 biolink:NamedThing neurodegeneration with ataxia and late-onset optic atrophy phenio_relaxed_subqs.owl MONDO:0031007 biolink:NamedThing spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis phenio_relaxed_subqs.owl MONDO:0031115 biolink:NamedThing dyskinesia with orofacial involvement phenio_relaxed_subqs.owl MONDO:0031178 biolink:NamedThing monosomy 7 myelodysplasia and leukemia syndrome phenio_relaxed_subqs.owl MONDO:0031199 biolink:NamedThing inherited interstitial lung disease phenio_relaxed_subqs.owl MONDO:0031200 biolink:NamedThing Bryant-Li-Bhoj neurodevelopmental syndrome phenio_relaxed_subqs.owl MONDO:0031386 biolink:NamedThing cardioacrofacial dysplasia phenio_relaxed_subqs.owl MONDO:0031400 biolink:NamedThing Tessadori-Van-Haaften neurodevelopmental syndrome phenio_relaxed_subqs.owl MONDO:0031439 biolink:NamedThing short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies phenio_relaxed_subqs.owl MONDO:0032565 biolink:NamedThing ophthalmoplegia, external, with rib and vertebral anomalies phenio_relaxed_subqs.owl MONDO:0032568 biolink:NamedThing intellectual developmental disorder with macrocephaly, seizures, and speech delay phenio_relaxed_subqs.owl MONDO:0032572 biolink:NamedThing cardiac, facial, and digital anomalies with developmental delay phenio_relaxed_subqs.owl MONDO:0032574 biolink:NamedThing osteochondrodysplasia, brachydactyly, and overlapping malformed digits phenio_relaxed_subqs.owl MONDO:0032579 biolink:NamedThing warburg-cinotti syndrome phenio_relaxed_subqs.owl MONDO:0032592 biolink:NamedThing cardiomyopathy, dilated, 2c phenio_relaxed_subqs.owl MONDO:0032600 biolink:NamedThing Snijders Blok-Campeau syndrome phenio_relaxed_subqs.owl MONDO:0032601 biolink:NamedThing inflammatory bowel disease, immunodeficiency, and encephalopathy phenio_relaxed_subqs.owl MONDO:0032607 biolink:NamedThing vertebral anomalies and variable endocrine and T-cell dysfunction phenio_relaxed_subqs.owl MONDO:0032642 biolink:NamedThing arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development phenio_relaxed_subqs.owl MONDO:0032645 biolink:NamedThing trichohepatoneurodevelopmental syndrome phenio_relaxed_subqs.owl MONDO:0032648 biolink:NamedThing mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations phenio_relaxed_subqs.owl MONDO:0032650 biolink:NamedThing neurodegeneration, childhood-onset, with cerebellar atrophy phenio_relaxed_subqs.owl MONDO:0032651 biolink:NamedThing fibrosis, neurodegeneration, and cerebral angiomatosis phenio_relaxed_subqs.owl MONDO:0032653 biolink:NamedThing cardiac-urogenital syndrome phenio_relaxed_subqs.owl MONDO:0032655 biolink:NamedThing visual impairment and progressive phthisis bulbi phenio_relaxed_subqs.owl MONDO:0032656 biolink:NamedThing microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum phenio_relaxed_subqs.owl MONDO:0032658 biolink:NamedThing macrocephaly, acquired, with impaired intellectual development phenio_relaxed_subqs.owl MONDO:0032659 biolink:NamedThing mucocutaneous ulceration, chronic phenio_relaxed_subqs.owl MONDO:0032672 biolink:NamedThing intellectual developmental disorder with cardiac defects and dysmorphic facies phenio_relaxed_subqs.owl MONDO:0032680 biolink:NamedThing global developmental delay with or without impaired intellectual development phenio_relaxed_subqs.owl MONDO:0032681 biolink:NamedThing encephalopathy, progressive, early-onset, with episodic rhabdomyolysis phenio_relaxed_subqs.owl MONDO:0032684 biolink:NamedThing intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency phenio_relaxed_subqs.owl MONDO:0032685 biolink:NamedThing infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development phenio_relaxed_subqs.owl MONDO:0032687 biolink:NamedThing intellectual developmental disorder with abnormal behavior, microcephaly, and short stature phenio_relaxed_subqs.owl MONDO:0032688 biolink:NamedThing polymicrogyria with or without vascular-type ehlers-danlos syndrome phenio_relaxed_subqs.owl MONDO:0032690 biolink:NamedThing microcephaly, growth deficiency, seizures, and brain malformations phenio_relaxed_subqs.owl MONDO:0032699 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 15 phenio_relaxed_subqs.owl MONDO:0032703 biolink:NamedThing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis phenio_relaxed_subqs.owl MONDO:0032707 biolink:NamedThing turnpenny-fry syndrome phenio_relaxed_subqs.owl MONDO:0032714 biolink:NamedThing facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome phenio_relaxed_subqs.owl MONDO:0032716 biolink:NamedThing leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate phenio_relaxed_subqs.owl MONDO:0032721 biolink:NamedThing spondyloepiphyseal dysplasia, kondo-fu type phenio_relaxed_subqs.owl MONDO:0032733 biolink:NamedThing global developmental delay, progressive ataxia, and elevated glutamine phenio_relaxed_subqs.owl MONDO:0032736 biolink:NamedThing metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression phenio_relaxed_subqs.owl MONDO:0032738 biolink:NamedThing gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy phenio_relaxed_subqs.owl MONDO:0032745 biolink:NamedThing developmental delay with variable intellectual impairment and behavioral abnormalities phenio_relaxed_subqs.owl MONDO:0032758 biolink:NamedThing neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia phenio_relaxed_subqs.owl MONDO:0032759 biolink:NamedThing intellectual developmental disorder with short stature and variable skeletal anomalies phenio_relaxed_subqs.owl MONDO:0032760 biolink:NamedThing developmental delay with or without dysmorphic facies and autism phenio_relaxed_subqs.owl MONDO:0032764 biolink:NamedThing Khan-Khan-Katsanis syndrome phenio_relaxed_subqs.owl MONDO:0032772 biolink:NamedThing brain abnormalities, neurodegeneration, and dysosteosclerosis phenio_relaxed_subqs.owl MONDO:0032774 biolink:NamedThing cerebellar, ocular, craniofacial, and genital syndrome phenio_relaxed_subqs.owl MONDO:0032780 biolink:NamedThing hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities phenio_relaxed_subqs.owl MONDO:0032781 biolink:NamedThing congenital hypotonia, epilepsy, developmental delay, and digital anomalies phenio_relaxed_subqs.owl MONDO:0032788 biolink:NamedThing cerebellar atrophy with seizures and variable developmental delay phenio_relaxed_subqs.owl MONDO:0032793 biolink:NamedThing O'Donnell-Luria-Rodan syndrome phenio_relaxed_subqs.owl MONDO:0032797 biolink:NamedThing myopathy, congenital, with tremor phenio_relaxed_subqs.owl MONDO:0032798 biolink:NamedThing ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features phenio_relaxed_subqs.owl MONDO:0032805 biolink:NamedThing hypopigmentation, organomegaly, and delayed myelination and development phenio_relaxed_subqs.owl MONDO:0032809 biolink:NamedThing hepatitis, fulminant viral, susceptibility to phenio_relaxed_subqs.owl MONDO:0032814 biolink:NamedThing microangiopathy and leukoencephalopathy, pontine, autosomal dominant phenio_relaxed_subqs.owl MONDO:0032821 biolink:NamedThing myopathy, congenital, progressive, with scoliosis phenio_relaxed_subqs.owl MONDO:0032824 biolink:NamedThing glycosylphosphatidylinositol biosynthesis defect 21 phenio_relaxed_subqs.owl MONDO:0032827 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 16 phenio_relaxed_subqs.owl MONDO:0032828 biolink:NamedThing spastic tetraplegia and axial hypotonia, progressive phenio_relaxed_subqs.owl MONDO:0032830 biolink:NamedThing snijders blok-fisher syndrome phenio_relaxed_subqs.owl MONDO:0032832 biolink:NamedThing intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies phenio_relaxed_subqs.owl MONDO:0032833 biolink:NamedThing lower urinary tract obstruction, congenital phenio_relaxed_subqs.owl MONDO:0032835 biolink:NamedThing spondyloepiphyseal dysplasia, nishimura type phenio_relaxed_subqs.owl MONDO:0032836 biolink:NamedThing weiss-kruszka syndrome phenio_relaxed_subqs.owl MONDO:0032841 biolink:NamedThing Usher syndrome, type 1M phenio_relaxed_subqs.owl MONDO:0032842 biolink:NamedThing siddiqi syndrome phenio_relaxed_subqs.owl MONDO:0032843 biolink:NamedThing oculopharyngeal myopathy with leukoencephalopathy 1 phenio_relaxed_subqs.owl MONDO:0032850 biolink:NamedThing neurooculocardiogenitourinary syndrome phenio_relaxed_subqs.owl MONDO:0032851 biolink:NamedThing intellectual developmental disorder with impaired language and dysmorphic facies phenio_relaxed_subqs.owl MONDO:0032852 biolink:NamedThing myopathy, congenital, with structured cores and z-line abnormalities phenio_relaxed_subqs.owl MONDO:0032853 biolink:NamedThing myopathy, distal, 6, adult-onset, autosomal dominant phenio_relaxed_subqs.owl MONDO:0032862 biolink:NamedThing hydrocephalus, congenital communicating, 1 phenio_relaxed_subqs.owl MONDO:0032864 biolink:NamedThing intellectual developmental disorder with speech delay, autism, and dysmorphic facies phenio_relaxed_subqs.owl MONDO:0032867 biolink:NamedThing pancreatic cancer, susceptibility to, 5 phenio_relaxed_subqs.owl MONDO:0032868 biolink:NamedThing lessel-kubisch syndrome phenio_relaxed_subqs.owl MONDO:0032870 biolink:NamedThing intellectual developmental disorder with short stature and behavioral abnormalities phenio_relaxed_subqs.owl MONDO:0032875 biolink:NamedThing short stature and microcephaly with genital anomalies phenio_relaxed_subqs.owl MONDO:0032879 biolink:NamedThing megabladder, congenital phenio_relaxed_subqs.owl MONDO:0032882 biolink:NamedThing Heyn-Sproul-Jackson syndrome phenio_relaxed_subqs.owl MONDO:0032883 biolink:NamedThing intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures phenio_relaxed_subqs.owl MONDO:0032884 biolink:NamedThing ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies phenio_relaxed_subqs.owl MONDO:0032885 biolink:NamedThing spondyloepimetaphyseal dysplasia, Isidor-Toutain type phenio_relaxed_subqs.owl MONDO:0032886 biolink:NamedThing Liang-Wang syndrome phenio_relaxed_subqs.owl MONDO:0032890 biolink:NamedThing neuromuscular disease and ocular or auditory anomalies with or without seizures phenio_relaxed_subqs.owl MONDO:0032892 biolink:NamedThing structural brain anomalies with impaired intellectual development and craniosynostosis phenio_relaxed_subqs.owl MONDO:0032893 biolink:NamedThing pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures phenio_relaxed_subqs.owl MONDO:0032897 biolink:NamedThing intellectual developmental disorder with hypotonia and behavioral abnormalities phenio_relaxed_subqs.owl MONDO:0032901 biolink:NamedThing Catifa syndrome phenio_relaxed_subqs.owl MONDO:0032908 biolink:NamedThing CEBALID syndrome phenio_relaxed_subqs.owl MONDO:0032913 biolink:NamedThing congenital heart defects, multiple types, 7 phenio_relaxed_subqs.owl MONDO:0032916 biolink:NamedThing Imagawa-Matsumoto syndrome phenio_relaxed_subqs.owl MONDO:0032920 biolink:NamedThing juvenile arthritis due to defect in LACC1 phenio_relaxed_subqs.owl MONDO:0032922 biolink:NamedThing Beck-Fahrner syndrome phenio_relaxed_subqs.owl MONDO:0032925 biolink:NamedThing respiratory papillomatosis, juvenile recurrent, congenital phenio_relaxed_subqs.owl MONDO:0032926 biolink:NamedThing sandestig-stefanova syndrome phenio_relaxed_subqs.owl MONDO:0032927 biolink:NamedThing triokinase and FMN cyclase deficiency syndrome phenio_relaxed_subqs.owl MONDO:0032928 biolink:NamedThing T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant phenio_relaxed_subqs.owl MONDO:0032930 biolink:NamedThing intellectual developmental disorder with poor growth and with or without seizures or ataxia phenio_relaxed_subqs.owl MONDO:0032931 biolink:NamedThing pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal phenio_relaxed_subqs.owl MONDO:0032934 biolink:NamedThing genitourinary and/or brain malformation syndrome phenio_relaxed_subqs.owl MONDO:0032935 biolink:NamedThing rhizomelic limb shortening with dysmorphic features phenio_relaxed_subqs.owl MONDO:0032936 biolink:NamedThing myopathy, congenital, with respiratory insufficiency and bone fractures phenio_relaxed_subqs.owl MONDO:0032937 biolink:NamedThing myopathy, congenital proximal, with minicore lesions phenio_relaxed_subqs.owl MONDO:0033211 biolink:NamedThing diencephalic-mesencephalic junction dysplasia syndrome phenio_relaxed_subqs.owl MONDO:0033532 biolink:NamedThing Suleiman-El-Hattab syndrome phenio_relaxed_subqs.owl MONDO:0033543 biolink:NamedThing cone-rod synaptic disorder syndrome, congenital nonprogressive phenio_relaxed_subqs.owl MONDO:0033544 biolink:NamedThing Tolchin-Le Caignec syndrome phenio_relaxed_subqs.owl MONDO:0033546 biolink:NamedThing neurodegeneration, infantile-onset, biotin-responsive phenio_relaxed_subqs.owl MONDO:0033547 biolink:NamedThing Li-Ghorbani-Weisz-Hubshman syndrome phenio_relaxed_subqs.owl MONDO:0033548 biolink:NamedThing myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies phenio_relaxed_subqs.owl MONDO:0033558 biolink:NamedThing autoinflammation, immune dysregulation, and eosinophilia phenio_relaxed_subqs.owl MONDO:0033559 biolink:NamedThing intellectual developmental disorder with seizures and language delay phenio_relaxed_subqs.owl MONDO:0033560 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 35 phenio_relaxed_subqs.owl MONDO:0033561 biolink:NamedThing deeah syndrome phenio_relaxed_subqs.owl MONDO:0033569 biolink:NamedThing combined oxidative phosphorylation deficiency 49 phenio_relaxed_subqs.owl MONDO:0033570 biolink:NamedThing combined oxidative phosphorylation deficiency 50 phenio_relaxed_subqs.owl MONDO:0033572 biolink:NamedThing intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies phenio_relaxed_subqs.owl MONDO:0033618 biolink:NamedThing Vissers-Bodmer syndrome phenio_relaxed_subqs.owl MONDO:0033619 biolink:NamedThing myopathy, epilepsy, and progressive cerebral atrophy phenio_relaxed_subqs.owl MONDO:0033621 biolink:NamedThing spinal muscular atrophy, infantile, James type phenio_relaxed_subqs.owl MONDO:0033640 biolink:NamedThing vitamin D-dependent rickets, type 3 phenio_relaxed_subqs.owl MONDO:0033641 biolink:NamedThing cleft palate, proliferative retinopathy, and developmental delay phenio_relaxed_subqs.owl MONDO:0033644 biolink:NamedThing microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 phenio_relaxed_subqs.owl MONDO:0033664 biolink:NamedThing Kilquist syndrome An autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. They show poor overall growth associated with gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, as well as profound global developmental delay with inability to sit or speak. Tear, sweat, and saliva production is also impaired, causing dry mouth and recurrent bronchial mucus plugging. Some of the clinical features are reminiscent of cystic fibrosis. phenio_relaxed_subqs.owl MONDO:0033667 biolink:NamedThing Delpire-McNeill syndrome phenio_relaxed_subqs.owl MONDO:0034820 biolink:NamedThing cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability characterized by unilateral or bilateral cleft lip and palate and craniofacial dysmorphism (including frontal bossing, hypertelorism, broad flat nasal bridge, cupped ears/thickened helices, and micrognathia). Additional manifestations are variable congenital cardiac anomalies, pectus excavatum, abnormalities of the hands and feet, ocular abnormalities (myopia, cataract, staphyloma), and conductive or sensorineural hearing loss. phenio_relaxed_subqs.owl MONDO:0034823 biolink:NamedThing oral-facial-digital syndrome with short stature and brachymesophalangy A rare ciliopathy characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones. phenio_relaxed_subqs.owl MONDO:0035027 biolink:NamedThing microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome phenio_relaxed_subqs.owl MONDO:0035105 biolink:NamedThing diaphragmatic hernia-short bowel-asplenia syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. phenio_relaxed_subqs.owl MONDO:0035320 biolink:NamedThing early-onset familial hypoaldosteronism A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low. phenio_relaxed_subqs.owl MONDO:0035454 biolink:NamedThing B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome phenio_relaxed_subqs.owl MONDO:0035529 biolink:NamedThing infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly. phenio_relaxed_subqs.owl MONDO:0035534 biolink:NamedThing DONSON-related microcephaly-short stature-limb abnormalities spectrum A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe. phenio_relaxed_subqs.owl MONDO:0035635 biolink:NamedThing short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome phenio_relaxed_subqs.owl MONDO:0035651 biolink:NamedThing choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome phenio_relaxed_subqs.owl MONDO:0035660 biolink:NamedThing GNAO1-related developmental delay-seizures-movement disorder spectrum phenio_relaxed_subqs.owl MONDO:0035661 biolink:NamedThing TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus. phenio_relaxed_subqs.owl MONDO:0035775 biolink:NamedThing CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome phenio_relaxed_subqs.owl MONDO:0035823 biolink:NamedThing KLHL7-related Bohring-Opitz-like syndrome phenio_relaxed_subqs.owl MONDO:0037940 biolink:NamedThing inherited auditory system disease An instance of auditory system disease that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0042966 biolink:NamedThing inherited mitral valve disease An instance of mitral valve disease that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0042973 biolink:NamedThing familial osteosclerosis An instance of osteosclerosis that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0043005 biolink:NamedThing genetic multiple congenital anomalies/dysmorphic syndrome An instance of multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0044203 biolink:NamedThing foveal hypoplasia phenio_relaxed_subqs.owl MONDO:0044302 biolink:NamedThing congenital heart defects, dysmorphic facial features, and intellectual developmental disorder phenio_relaxed_subqs.owl MONDO:0044303 biolink:NamedThing congenital heart defects and ectodermal dysplasia phenio_relaxed_subqs.owl MONDO:0044311 biolink:NamedThing brachycephaly, trichomegaly, and developmental delay BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by {2:Paolini et al., 2017}). phenio_relaxed_subqs.owl MONDO:0044312 biolink:NamedThing immunoskeletal dysplasia with neurodevelopmental abnormalities phenio_relaxed_subqs.owl MONDO:0044316 biolink:NamedThing thrombocytopenia, anemia, and myelofibrosis phenio_relaxed_subqs.owl MONDO:0044321 biolink:NamedThing structural heart defects and renal anomalies syndrome phenio_relaxed_subqs.owl MONDO:0044331 biolink:NamedThing genetic transient congenital hypothyroidism An instance of transient congenital hypothyroidism that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0044675 biolink:NamedThing LRP5-related primary osteoporosis phenio_relaxed_subqs.owl MONDO:0056822 biolink:NamedThing amyotonia congenita phenio_relaxed_subqs.owl MONDO:0060456 biolink:NamedThing cerebral sclerosis, diffuse, scholz type phenio_relaxed_subqs.owl MONDO:0060457 biolink:NamedThing autoinflammation with arthritis and dyskeratosis phenio_relaxed_subqs.owl MONDO:0060507 biolink:NamedThing retinal dystrophy with or without macular staphyloma phenio_relaxed_subqs.owl MONDO:0060510 biolink:NamedThing Cohen-Gibson syndrome phenio_relaxed_subqs.owl MONDO:0060527 biolink:NamedThing maleylacetoacetate isomerase deficiency phenio_relaxed_subqs.owl MONDO:0060532 biolink:NamedThing congenital heart defects and skeletal malformations syndrome phenio_relaxed_subqs.owl MONDO:0060533 biolink:NamedThing microcephaly, short stature, and limb abnormalities phenio_relaxed_subqs.owl MONDO:0060549 biolink:NamedThing congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay phenio_relaxed_subqs.owl MONDO:0060551 biolink:NamedThing cerebellar atrophy, developmental delay, and seizures phenio_relaxed_subqs.owl MONDO:0060562 biolink:NamedThing encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities phenio_relaxed_subqs.owl MONDO:0060583 biolink:NamedThing platelet abnormalities with eosinophilia and immune-mediated inflammatory disease phenio_relaxed_subqs.owl MONDO:0060589 biolink:NamedThing facial palsy, congenital, with ptosis and velopharyngeal dysfunction phenio_relaxed_subqs.owl MONDO:0060591 biolink:NamedThing immunodeficiency, developmental delay, and hypohomocysteinemia phenio_relaxed_subqs.owl MONDO:0060592 biolink:NamedThing Sweeney-Cox syndrome phenio_relaxed_subqs.owl MONDO:0060611 biolink:NamedThing combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia phenio_relaxed_subqs.owl MONDO:0060631 biolink:NamedThing Alkuraya-Kucinskas syndrome phenio_relaxed_subqs.owl MONDO:0060662 biolink:NamedThing Diamond-Blackfan anemia-like phenio_relaxed_subqs.owl MONDO:0060663 biolink:NamedThing congenital heart defects, multiple types, 5 phenio_relaxed_subqs.owl MONDO:0060666 biolink:NamedThing hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome phenio_relaxed_subqs.owl MONDO:0060688 biolink:NamedThing hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency phenio_relaxed_subqs.owl MONDO:0060690 biolink:NamedThing phenytoin toxicity phenio_relaxed_subqs.owl MONDO:0060702 biolink:NamedThing spondyloepimetaphyseal dysplasia, di rocco type phenio_relaxed_subqs.owl MONDO:0060707 biolink:NamedThing Ververi-Brady syndrome phenio_relaxed_subqs.owl MONDO:0060711 biolink:NamedThing Jaberi-Elahi syndrome phenio_relaxed_subqs.owl MONDO:0060712 biolink:NamedThing developmental delay, intellectual disability, obesity, and dysmorphic features phenio_relaxed_subqs.owl MONDO:0060713 biolink:NamedThing deafness, congenital heart defects, and posterior embryotoxon phenio_relaxed_subqs.owl MONDO:0060733 biolink:NamedThing humerofemoral hypoplasia with radiotibial ray deficiency phenio_relaxed_subqs.owl MONDO:0060745 biolink:NamedThing intellectual developmental disorder with or without epilepsy or cerebellar ataxia phenio_relaxed_subqs.owl MONDO:0100039 biolink:NamedThing CDKL5 disorder A monogenic disease that has material basis in mutation in the CDKL5 gene. phenio_relaxed_subqs.owl MONDO:0100040 biolink:NamedThing FOXG1 disorder A monogenic disease that has material basis in mutation in the FOXG1 gene. phenio_relaxed_subqs.owl MONDO:0100089 biolink:NamedThing GATA1-Related X-Linked Cytopenia X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia. phenio_relaxed_subqs.owl MONDO:0100091 biolink:NamedThing inherited pseudoxanthoma elasticum An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician. phenio_relaxed_subqs.owl MONDO:0100100 biolink:NamedThing SELENON-related myopathy Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present. phenio_relaxed_subqs.owl MONDO:0100111 biolink:NamedThing focal segmental glomerulosclerosis and neurodevelopmental syndrome A Mendelian diseases characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Some patients present with renal disease, whereas others present with developmental delay and develop renal disease later in childhood. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), but the course of the disease is variable: some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early-onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and nonspecific dysmorphic facial features, are commonly observed. phenio_relaxed_subqs.owl MONDO:0100150 biolink:NamedThing RYR1-related myopathy phenio_relaxed_subqs.owl MONDO:0100176 biolink:NamedThing AP-4 deficiency syndrome A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures. phenio_relaxed_subqs.owl MONDO:0100209 biolink:NamedThing X inactivation, familial skewed phenio_relaxed_subqs.owl MONDO:0100210 biolink:NamedThing growth hormone insensitivity syndrome with immune dysregulation phenio_relaxed_subqs.owl MONDO:0100239 biolink:NamedThing inherited hypertrophic pyloric stenosis An instance of hypertrophic pyloric stenosis that is inherited. phenio_relaxed_subqs.owl MONDO:0100241 biolink:NamedThing inherited thrombocytopenia An instance of thrombocytopenia that is inherited. phenio_relaxed_subqs.owl MONDO:0100328 biolink:NamedThing microcephaly, epilepsy, and diabetes syndrome phenio_relaxed_subqs.owl MONDO:0100347 biolink:NamedThing carcinoid syndrome phenio_relaxed_subqs.owl MONDO:0100349 biolink:NamedThing COACH syndrome A Mendelian disease characterized by infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate intellectual disability. phenio_relaxed_subqs.owl MONDO:0100457 biolink:NamedThing achalasia, familial esophageal An instance of achalsia that is caused by an inherited genomic modification in an individual. phenio_relaxed_subqs.owl MONDO:0100458 biolink:NamedThing MECOM-associated syndrome Any syndrome in which the cause of the disease is a mutation in the MECOM gene. MECOM-associated syndrome has a variable phenotypic pattern, ranging from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormalities. The clinical picture can also include clinodactyly, cardiac and renal malformations, B-cell deficiency, amegakaryocytic thrombocytopenia, and presenile hearing loss. phenio_relaxed_subqs.owl MONDO:0100487 biolink:NamedThing TPM4-related platelet disorder A platelet disorder in which the cause of the disease is a variant in the TPM4 gene. phenio_relaxed_subqs.owl MONDO:0600017 biolink:NamedThing acinar dysplasia caused by mutation in FGF10 Any acinar dysplasia in which the cause of the disease is a mutation in the FGF10 gene. phenio_relaxed_subqs.owl MONDO:0600018 biolink:NamedThing acinar dysplasia caused by mutation in FGFR2 Any acinar dysplasia in which the cause of the disease is a mutation in the FGFR2 gene. phenio_relaxed_subqs.owl MONDO:0600019 biolink:NamedThing acinar dysplasia caused by mutation in TBX4 Any acinar dysplasia in which the cause of the disease is a mutation in the TBX4 gene. phenio_relaxed_subqs.owl MONDO:0700120 biolink:NamedThing BAFopathy Disorder caused by mutations in the various subunits composing the BAF complex. phenio_relaxed_subqs.owl MONDO:0800031 biolink:NamedThing central hypoventilation syndrome, congenital phenio_relaxed_subqs.owl NCIT:C3101 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_32895009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000508 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0019269 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002768 biolink:NamedThing true hermaphroditism A rare condition characterized by the unequivocal presence of both testicular and ovarian tissues in an individual. It is usually manifested with ambiguous external genitalia. phenio_relaxed_subqs.owl DOID:3763 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85207 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237821001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0019338 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005791 biolink:NamedThing herpangina A viral infectious disease that results in infection located in mouth, has material basis in Human coxsackievirus A16, has material basis in Human enterovirus 71, has material basis in group B coxsackievirus, or has material basis in echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars. phenio_relaxed_subqs.owl DOID:10883 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006557 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_274102007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007306 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0019342 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005770 biolink:NamedThing genital herpes Herpes simplex infection of the genitals, most commonly caused by the herpes simplex-2 virus. phenio_relaxed_subqs.owl DOID:8704 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_054.10 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006558 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0100363 biolink:NamedThing genital herpes simplex type 2 infectious disorder Any herpes simplex type 2 infectious disease that involves the genitals. phenio_relaxed_subqs.owl MONDO:0100364 biolink:NamedThing genital herpes simplex type 1 infectious disorder Any herpes simplex type 1 infectious disease that involves the genitals. phenio_relaxed_subqs.owl NCIT:C14364 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_33839006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007282 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0019343 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006558 biolink:NamedThing pemphigoid gestationis A rare pregnancy-associated autoimmune skin disease that is characterised by an itchy rash that develops into blisters. It is most common during the second and third trimesters of pregnancy. It was previously known as herpes gestationis although it has no association with the herpes virus whatsoever. phenio_relaxed_subqs.owl DOID:0040098 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14482 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006497 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006559 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85003 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_86081009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000709 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:63275 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0019345 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0043653 biolink:NamedThing herpes labialis A lesion caused by type 1 or type 2 herpes simplex virus, typically involving the oralfacial region. phenio_relaxed_subqs.owl OBO:MESH_D006560 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0100361 biolink:NamedThing lip herpes simplex type 1 infectious disorder Any herpes simplex type 1 infectious disease that involves the lip. This virus usually responsible for cold sores (herpes labialis). phenio_relaxed_subqs.owl MONDO:0100362 biolink:NamedThing lip herpes simplex type 2 infectious disorder Any herpes simplex type 2 infectious disease that involves the lip. phenio_relaxed_subqs.owl NCIT:C34695 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_1475003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001347 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0019348 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004609 biolink:NamedThing herpes simplex infectious disease A group of acute infections caused by herpes simplex virus type 1 or type 2 that is characterized by the development of one or more small fluid-filled vesicles with a raised erythematous base on the skin or mucous membrane. It occurs as a primary infection or recurs due to a reactivation of a latent infection. (Dorland, 27th ed.) phenio_relaxed_subqs.owl DOID:8566 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B00 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006561 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004616 biolink:NamedThing herpetic whitlow A painful blister of the periungual skin that is caused by herpes simplex virus type 1 or 2. phenio_relaxed_subqs.owl MONDO:0004712 biolink:NamedThing herpes simplex dermatitis Localized rash characterized by grouped vesicles or pustules on an erythematous base that is caused by herpes simplex virus infection. phenio_relaxed_subqs.owl MONDO:0005792 biolink:NamedThing herpes simplex virus gingivostomatitis Stomatitis caused by Herpesvirus hominis. It usually occurs as acute herpetic stomatitis (or gingivostomatitis), an oral manifestation of primary herpes simplex seen primarily in children and adolescents. phenio_relaxed_subqs.owl MONDO:0012521 biolink:NamedThing herpes simplex encephalitis Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness. phenio_relaxed_subqs.owl MONDO:0017381 biolink:NamedThing congenital herpes simplex virus infection Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent foetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent. phenio_relaxed_subqs.owl MONDO:0100359 biolink:NamedThing herpes simplex type 1 infectious disease A disease caused by infection with herpes simplex type 1. phenio_relaxed_subqs.owl MONDO:0100360 biolink:NamedThing herpes simplex type 2 infectious disease A disease caused by infection with herpes simplex type 2. phenio_relaxed_subqs.owl OBO:SCTID_88594005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1002022 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0019360 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005609 biolink:NamedThing herpes zoster A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area. phenio_relaxed_subqs.owl DOID:8536 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B02 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006562 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005883 biolink:NamedThing ophthalmic herpes zoster Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve. phenio_relaxed_subqs.owl MONDO:0043988 biolink:NamedThing zoster sine herpete Herpes zoster but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult. phenio_relaxed_subqs.owl NCIT:C71079 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_4740000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0006510 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0019362 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34696 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_186525007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0019364 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009721 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006563 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_87513003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007403 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0019556 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006619 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0019562 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008667 biolink:NamedThing von Hippel-Lindau disease Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma. phenio_relaxed_subqs.owl DOID:14175 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007855 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006623 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3105 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:193300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_46659004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:892 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0019655 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018312 biolink:NamedThing histoplasmosis A disease caused by the fungus Histoplasma capsulatum. It primarily affects the lungs but can also occur as a disseminated disease that affects additional organs. The acute respiratory disease has symptoms similar to those of a cold or flu and it usually resolves without treatment in healthy individuals. The disseminated form is generally fatal if untreated. phenio_relaxed_subqs.owl DOID:1731 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B39 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_115.90 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006660 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000981 biolink:NamedThing Histoplasma pericarditis An pericarditis (disease) caused by infection with Histoplasma. phenio_relaxed_subqs.owl MONDO:0002099 biolink:NamedThing Histoplasma capsulatum infectious disease An disease or disorder caused by infection with Histoplasma capsulatum. phenio_relaxed_subqs.owl NCIT:C77201 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_12962009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007310 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:390 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0019693 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005109 biolink:NamedThing HIV infectious disease An infection caused by the human immunodeficiency virus. phenio_relaxed_subqs.owl DOID:526 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B20-B20 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_042 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015658 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005695 biolink:NamedThing central nervous system AIDS arteritis Inflammation of arteries in the central nervous system that occurs in patients with acquired immunodeficiency syndrome or aids-related opportunistic infections. phenio_relaxed_subqs.owl MONDO:0005797 biolink:NamedThing HIV wasting syndrome Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than hiv infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611). phenio_relaxed_subqs.owl MONDO:0012268 biolink:NamedThing AIDS A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin lymphoma and Kaposi sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood. phenio_relaxed_subqs.owl MONDO:0022839 biolink:NamedThing congenital human immunodeficiency virus phenio_relaxed_subqs.owl NCIT:C3108 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_86406008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000764 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0019841 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0025087 biolink:NamedThing classical swine fever An acute, highly contagious disease affecting swine of all ages and caused by the classical swine fever virus. It has a sudden onset with high morbidity and mortality. phenio_relaxed_subqs.owl OBO:MESH_D006691 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0019940 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006734 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020074 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009746 biolink:NamedThing hereditary sensory and autonomic neuropathy type 4 Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever. phenio_relaxed_subqs.owl DOID:0070146 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003006 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C118633 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:256800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_62985007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:642 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020097 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005801 biolink:NamedThing human T-lymphotropic virus 1 infectious disease A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has material basis in Human T-lymphotropic virus 1, which is transmitted by sexual contact, transmitted by contaminated needles used by intravenous-drug users, and transmitted by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder. phenio_relaxed_subqs.owl OBO:GARD_0009645 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015490 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008039 biolink:NamedThing tropical spastic paraparesis Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection. phenio_relaxed_subqs.owl MONDO:0019471 biolink:NamedThing adult T-cell leukemia/lymphoma A peripheral (mature) T-cell neoplasm linked to the human T-cell leukemia virus type 1 (HTLV-1), adult T-cell leukemia/lymphoma is endemic in several regions of the world, in particular Japan, the Caribbean, and parts of Central Africa. phenio_relaxed_subqs.owl EFO:0007316 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020179 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007739 biolink:NamedThing Huntington disease Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. phenio_relaxed_subqs.owl DOID:12858 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006677 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_333.4 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016621 biolink:NamedThing juvenile Huntington disease Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age. phenio_relaxed_subqs.owl NCIT:C82342 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:143100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_58756001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:399 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020192 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009971 biolink:NamedThing newborn respiratory distress syndrome Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts. phenio_relaxed_subqs.owl UMLS:C0035220 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1968593 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12716 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000112 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_769 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27560 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:267450 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_46775006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000644 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:70587 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020217 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010263 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006828 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016785 biolink:NamedThing complete hydatidiform mole Complete hydatidiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma. phenio_relaxed_subqs.owl MONDO:0016786 biolink:NamedThing partial hydatidiform mole Partial hydatiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage. phenio_relaxed_subqs.owl MONDO:0032746 biolink:NamedThing hydatidiform mole, recurrent, 3 phenio_relaxed_subqs.owl MONDO:0032747 biolink:NamedThing hydatidiform mole, recurrent, 4 phenio_relaxed_subqs.owl NCIT:C3110 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_231090 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_MP biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_44782008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000298 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99927 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020413 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0277045 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10074 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002787 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B71.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_123.6 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006925 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84768 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_44917000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007317 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:401 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020428 biolink:NamedThing phenio_relaxed_subqs.owl DOID:446 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E26 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_255.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_255.10 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006929 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_88213004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020435 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002408 biolink:NamedThing hereditary hyperbilirubinemia An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome. phenio_relaxed_subqs.owl DOID:2741 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006933 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007745 biolink:NamedThing Gilbert syndrome An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice. phenio_relaxed_subqs.owl MONDO:0009379 biolink:NamedThing Rotor syndrome Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology. phenio_relaxed_subqs.owl MONDO:0009380 biolink:NamedThing Dubin-Johnson syndrome Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells. phenio_relaxed_subqs.owl MONDO:0009381 biolink:NamedThing hyperbilirubinemia, conjugated, type 3 phenio_relaxed_subqs.owl MONDO:0009382 biolink:NamedThing hyperbilirubinemia, shunt, primary phenio_relaxed_subqs.owl MONDO:0009383 biolink:NamedThing transient familial neonatal hyperbilirubinemia phenio_relaxed_subqs.owl NCIT:C84761 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_237450 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020437 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12678 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E83.52 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_275.42 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006934 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0043455 biolink:NamedThing humoral hypercalcemia of malignancy Hypercalcemia generally develops as a late complication of malignancy; its appearance has grave prognostic significance. It remains unclear, however, whether death is associated with hypercalcemic crisis (uncontrolled or recurrent progressive hypercalcemia) or with advanced disease. Symptoms include central nervous system impairment such as delirium with prominent symptoms of personality change, cognitive dysfunction, disorientation, incoherent speech, and psychotic symptoms such as hallucinations and delusions, smooth muscle hypotonicity, and altered cardiovascular function. phenio_relaxed_subqs.owl NCIT:C3112 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_66931009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020456 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002909 biolink:NamedThing hyperglycemia Abnormally high level of glucose in the blood. phenio_relaxed_subqs.owl DOID:4195 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006943 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_80394007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020459 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002177 biolink:NamedThing hyperinsulinism Abnormally high levels of insulin in the blood. phenio_relaxed_subqs.owl DOID:2018 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006946 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017182 biolink:NamedThing familial hyperinsulinism An instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl OBO:SCTID_83469008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020473 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021187 biolink:NamedThing hyperlipidemia phenio_relaxed_subqs.owl UMLS:CN236649 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E78.5 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006949 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001336 biolink:NamedThing familial hyperlipidemia An instance of hyperlipidemia (disease) that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0015902 biolink:NamedThing major hypertriglyceridemia Major hypertriglyceridemia comprises a group of endocrine diseases characterized by permanently high levels of triglycerides (TG) in the blood (higher than 4g/L after 12 hours of fasting) and an increased risk of acute pancreatitis, making screening essential. phenio_relaxed_subqs.owl MONDO:0015903 biolink:NamedThing hyperalphalipoproteinemia An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease. phenio_relaxed_subqs.owl OBO:SCTID_55822004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0003774 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020476 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0037748 biolink:NamedThing hyperlipoproteinemia An elevated concentration of lipoproteins. phenio_relaxed_subqs.owl MONDO:0005439 biolink:NamedThing familial hypercholesterolemia An inheritable form of hyperlipidemia, in which there are excess lipids in the blood. phenio_relaxed_subqs.owl MONDO:0009387 biolink:NamedThing familial lipoprotein lipase deficiency Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines. phenio_relaxed_subqs.owl NCIT:C34709 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020479 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018473 biolink:NamedThing hyperlipoproteinemia type 3 Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease. phenio_relaxed_subqs.owl UMLS:C1862561 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3145 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006703 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617347 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_398796005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:412 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020499 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0044355 biolink:NamedThing isolated sternocostoclavicular hyperostosis Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases. phenio_relaxed_subqs.owl OBO:SCTID_766711009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:178311 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020501 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2977 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006960 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009823 biolink:NamedThing primary hyperoxaluria type 1 A rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement. phenio_relaxed_subqs.owl MONDO:0009824 biolink:NamedThing primary hyperoxaluria type 2 Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis. phenio_relaxed_subqs.owl MONDO:0013327 biolink:NamedThing primary hyperoxaluria type 3 Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis. phenio_relaxed_subqs.owl NCIT:C123158 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_259900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_17901006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:416 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020502 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001741 biolink:NamedThing hyperparathyroidism Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes. phenio_relaxed_subqs.owl DOID:13543 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_252.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_252.00 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006961 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006964 biolink:NamedThing secondary hyperparathyroidism Overproduction of parathyroid hormone in response to influence external to the parathyroid glands. phenio_relaxed_subqs.owl MONDO:0010837 biolink:NamedThing primary hyperparathyroidism Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. phenio_relaxed_subqs.owl MONDO:0021132 biolink:NamedThing tertiary hyperparathyroidism An overproduction of parathyroid hormone that is autonomous and often associated with chronic secondary hyperparathyroidism. phenio_relaxed_subqs.owl NCIT:C48259 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_66999008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0008506 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020503 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12466 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006962 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001530 biolink:NamedThing secondary hyperparathyroidism of renal origin phenio_relaxed_subqs.owl MONDO:0001750 biolink:NamedThing non-renal secondary hyperparathyroidism phenio_relaxed_subqs.owl NCIT:C113335 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_91478007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001173 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020506 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006793 biolink:NamedThing hyperpituitarism Disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. Hyperpituitarism usually is caused by a functional adenoma. phenio_relaxed_subqs.owl DOID:2444 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006964 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005804 biolink:NamedThing hyperprolactinemia Abnormally high level of prolactin in the blood. phenio_relaxed_subqs.owl MONDO:0020479 biolink:NamedThing pituitary gigantism The condition of accelerated and excessive growth in children or adolescents who are exposed to excess human growth hormone before the closure of epiphyses. It is usually caused by somatotroph hyperplasia or a growth hormone-secreting pituitary adenoma. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age. phenio_relaxed_subqs.owl OBO:SCTID_10649000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000973 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020514 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E22.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006966 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014250 biolink:NamedThing familial hyperprolactinemia Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients. phenio_relaxed_subqs.owl MONDO:0024305 biolink:NamedThing acquired hyperprolactinemia An instance of hyperprolactinemia (disease) that is acquired during the lifetime of the individual. phenio_relaxed_subqs.owl OBO:SCTID_237662005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007319 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020551 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005333 biolink:NamedThing hyperthyroxinemia Abnormally elevated thyroxine level in the blood. phenio_relaxed_subqs.owl DOID:2855 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006981 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0004127 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020557 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005347 biolink:NamedThing hypertriglyceridemia A laboratory test result indicating elevated triglyceride concentration in the blood. phenio_relaxed_subqs.owl OBO:MESH_D015228 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007788 biolink:NamedThing hypertriglyceridemia, familial An instance of hypertriglyceridemia (disease) that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl OBO:SCTID_302870006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0004211 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020579 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006798 biolink:NamedThing hypervitaminosis A A symptom complex resulting from ingesting excessive amounts of vitamin A. phenio_relaxed_subqs.owl DOID:9972 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E67.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_278.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006986 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_64559002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000978 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020595 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015900 biolink:NamedThing hypoaldosteronism disease phenio_relaxed_subqs.owl OBO:GARD_0002874 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006994 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018541 biolink:NamedThing familial hypoaldosteronism Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone). phenio_relaxed_subqs.owl OBO:SCTID_60086000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:181419 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020597 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017774 biolink:NamedThing hypobetalipoproteinemia A group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol. phenio_relaxed_subqs.owl DOID:1390 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006995 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009528 biolink:NamedThing chylomicron retention disease Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications. phenio_relaxed_subqs.owl MONDO:0011505 biolink:NamedThing familial hypobetalipoproteinemia 2 Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene. phenio_relaxed_subqs.owl MONDO:0014252 biolink:NamedThing familial hypobetalipoproteinemia 1 Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene. phenio_relaxed_subqs.owl OBO:SCTID_190786004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:31154 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020607 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005805 biolink:NamedThing hypodermyiasis Infestation with larvae of the genus Hypoderma, the warble fly. phenio_relaxed_subqs.owl DOID:12926 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007000 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000301 biolink:NamedThing ophthalmomyiasis An myiasis caused by infection with Oestrus ovis. phenio_relaxed_subqs.owl EFO:0007320 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:430 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020615 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004946 biolink:NamedThing hypoglycemia Abnormally low level of glucose in the blood. phenio_relaxed_subqs.owl DOID:9993 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_251.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007003 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3126 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_302866003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020619 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1924 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007006 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001967 biolink:NamedThing gonadal dysgenesis A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics. phenio_relaxed_subqs.owl MONDO:0005758 biolink:NamedThing eunuchism The state of being a eunuch, a male without testes or whose testes failed to develop. It is characterized by the lack of mature male germ cells and testicular hormones. phenio_relaxed_subqs.owl MONDO:0023820 biolink:NamedThing Moebius axonal neuropathy hypogonadism phenio_relaxed_subqs.owl MONDO:0042962 biolink:NamedThing Slti-Salem syndrome phenio_relaxed_subqs.owl MONDO:0043077 biolink:NamedThing weinstein kliman scully syndrome phenio_relaxed_subqs.owl NCIT:C9227 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_48130008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020630 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018570 biolink:NamedThing hypophosphatasia Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia). phenio_relaxed_subqs.owl DOID:14213 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006734 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007014 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016605 biolink:NamedThing perinatal lethal hypophosphatasia A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth. phenio_relaxed_subqs.owl MONDO:0016607 biolink:NamedThing odontohypophosphatasia Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities. phenio_relaxed_subqs.owl MONDO:0600009 biolink:NamedThing severe hypophosphatasia Severe hypophosphatasia is a rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Individuals often present with these features in infancy or in the perinatal period. phenio_relaxed_subqs.owl MONDO:0600010 biolink:NamedThing moderate hypophosphatasia Moderate hypophosphatasia is a rare, moderate form of hypophosphatasia characterized by defective mineralization of bone and/or teeth, premature loss of teeth with intact roots, and reduced serum alkaline phosphatase (ALP) activity. Individuals can present with this form of hypophosphatasia in infancy, childhood, or adulthood. phenio_relaxed_subqs.owl MONDO:0600011 biolink:NamedThing mild hypophosphatasia Mild hypophosphatasia is the most common form of hypophosphatasia characterized by low alkaline phosphatase, unspecific clinical signs, and typically presents in individuals in adulthood. phenio_relaxed_subqs.owl NCIT:C26798 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_360792001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:436 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020635 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005152 biolink:NamedThing hypopituitarism A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions. phenio_relaxed_subqs.owl DOID:9406 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002917 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E23.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007018 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013099 biolink:NamedThing combined pituitary hormone deficiencies, genetic form Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy. phenio_relaxed_subqs.owl MONDO:0019832 biolink:NamedThing acquired pituitary hormone deficiency An instance of hypopituitarism that is acquired during the lifetime of the individual. phenio_relaxed_subqs.owl MONDO:0023538 biolink:NamedThing Kaplowitz-Bodurtha syndrome phenio_relaxed_subqs.owl NCIT:C62591 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_74728003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0001380 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020640 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013361 biolink:NamedThing congenital prothrombin deficiency Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms. phenio_relaxed_subqs.owl DOID:2235 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002235 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007020 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131737 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613679 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_73975000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:325 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020725 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009650 biolink:NamedThing mucolipidosis type II Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly. phenio_relaxed_subqs.owl UMLS:C2673377 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080070 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006749 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538602 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C61270 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:252500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_70199000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:576 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0020732 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_T80-T88 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007049 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0043544 biolink:NamedThing nosocomial infection An infection acquired in a hospital or other healthcare setting. phenio_relaxed_subqs.owl OBO:SCTID_12456005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0021051 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003778 biolink:NamedThing inborn errors of immunity A disorder in which the immune system is unable to mount an adequate immune response. phenio_relaxed_subqs.owl DOID:612 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007153 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002211 biolink:NamedThing B cell deficiency A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient. phenio_relaxed_subqs.owl MONDO:0003947 biolink:NamedThing hyper-IgM syndrome A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation. phenio_relaxed_subqs.owl MONDO:0005910 biolink:NamedThing phagocyte bactericidal dysfunction Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas. phenio_relaxed_subqs.owl MONDO:0009464 biolink:NamedThing immunodeficiency with defective T-cell response to interleukin 1 phenio_relaxed_subqs.owl MONDO:0010368 biolink:NamedThing immunodeficiency without anhidrotic ectodermal dysplasia phenio_relaxed_subqs.owl MONDO:0010504 biolink:NamedThing immunodeficiency 47 Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene. phenio_relaxed_subqs.owl MONDO:0010625 biolink:NamedThing immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein phenio_relaxed_subqs.owl MONDO:0010713 biolink:NamedThing properdin deficiency, X-linked A rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease. phenio_relaxed_subqs.owl MONDO:0013953 biolink:NamedThing immunodeficiency 28 Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene. phenio_relaxed_subqs.owl MONDO:0014491 biolink:NamedThing immunodeficiency 37 Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene. phenio_relaxed_subqs.owl MONDO:0014597 biolink:NamedThing immunodeficiency 39 Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene. phenio_relaxed_subqs.owl MONDO:0014981 biolink:NamedThing immunodeficiency 49 Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene. phenio_relaxed_subqs.owl MONDO:0015135 biolink:NamedThing primary immunodeficiency due to a genetic defect in innate immunity phenio_relaxed_subqs.owl MONDO:0015541 biolink:NamedThing genetic hemophagocytic lymphohistiocytosis Genetic hemophagocytic lymphohistiocytosis. phenio_relaxed_subqs.owl MONDO:0015823 biolink:NamedThing primary immunodeficiency due to a defect in adaptive immunity phenio_relaxed_subqs.owl MONDO:0016537 biolink:NamedThing lymphoproliferative syndrome A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis). phenio_relaxed_subqs.owl MONDO:0016542 biolink:NamedThing immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is a rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma. phenio_relaxed_subqs.owl MONDO:0033968 biolink:NamedThing immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome phenio_relaxed_subqs.owl MONDO:0033969 biolink:NamedThing inflammatory bowel disease-recurrent sinopulmonary infections syndrome phenio_relaxed_subqs.owl MONDO:0100222 biolink:NamedThing A20 haploinsufficiency Any immune dysregulation disease in which the cause of the disease is a mutation in the TNFAIP3 gene. phenio_relaxed_subqs.owl UMLS:C0021099 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004592 biolink:NamedThing impetigo A contagious bacterial cutaneous infection that affects children and is usually caused by Staphylococcus aureus. It usually presents in the face with honey colored scabs. phenio_relaxed_subqs.owl DOID:8504 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_L01 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_684 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007169 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004591 biolink:NamedThing impetigo herpetiformis An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy. phenio_relaxed_subqs.owl NCIT:C99088 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_48277006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000714 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0021100 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018182 biolink:NamedThing bullous impetigo Bullous impetigo is a contagious superficial infection occurring in intact skin. Prevalence in the general population is unknown. The disease is characterized by fragile vesicles and flaccid blisters, most often presenting as erosive lesions covered by a yellow crust. The face, trunk and extremities of children under 5 years of age (particularly neonates) are mainly affected. The disease is generally caused by group II Staphylococcus aureus. phenio_relaxed_subqs.owl OBO:ICD10CM_L01.03 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_399183005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:36237 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0021141 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006802 biolink:NamedThing inappropriate ADH syndrome A syndrome characterized by abnormal secretion of antidiuretic hormone in conjunction with neoplastic growth occurring anywhere in the body. phenio_relaxed_subqs.owl DOID:3401 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007177 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3988 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_55004003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000982 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:83449 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0021171 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12305 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006778 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007184 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84787 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:308300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_367520004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000672 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:464 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0021192 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001391 biolink:NamedThing indeterminate leprosy A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules. phenio_relaxed_subqs.owl DOID:11851 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A30.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_030.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_14386001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0021334 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007241 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0021345 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005810 biolink:NamedThing infectious mononucleosis A condition characterized by an increase in mononuclear white blood cells and swollen lymph nodes, which is usually caused by infection with the Epstein-Barr virus. phenio_relaxed_subqs.owl DOID:8568 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007244 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34726 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_186668002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007326 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0021832 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024270 biolink:NamedThing parasitic intestinal disorder Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS. phenio_relaxed_subqs.owl OBO:MESH_D007411 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024608 biolink:NamedThing dientamoebiasis Gastrointestinal infection with organisms of the genus dientamoeba. phenio_relaxed_subqs.owl UMLS:C0021874 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10095 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_324.0 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34734 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_27614006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0021933 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8446 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_K56.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_560.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007443 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:147710 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_49723003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0022104 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005052 biolink:NamedThing irritable bowel syndrome Irritable bowel syndrome (IBS) is a chronic functional condition of the lower gastrointestinal (GI) tract characterised by abdominal pain or discomfort and disordered bowel habit (diarrhoea, constipation, or fluctuation between the two). phenio_relaxed_subqs.owl DOID:9778 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_K58 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_564.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D043183 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C82343 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_10743008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000555 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0022350 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12308 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002793 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006289 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007566 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34741 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:237500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_44553005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:234 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0022354 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006874 biolink:NamedThing obstructive jaundice A finding indicating increased bilirubin levels in the blood and urine, due to intrahepatic or extrahepatic obstruction of the biliary system. phenio_relaxed_subqs.owl DOID:13603 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D041781 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_44018007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001068 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0022387 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002441 biolink:NamedThing Jervell and Lange-Nielsen syndrome An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome. phenio_relaxed_subqs.owl DOID:2842 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003048 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D029593 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012871 biolink:NamedThing Jervell and Lange-Nielsen syndrome 2 Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene. phenio_relaxed_subqs.owl MONDO:0024540 biolink:NamedThing Jervell and Lange-Nielsen syndrome 1 Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene. phenio_relaxed_subqs.owl NCIT:C84793 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_220400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_373905003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90647 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0022541 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010787 biolink:NamedThing Kearns-Sayre syndrome Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block. phenio_relaxed_subqs.owl DOID:12934 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006817 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007625 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84798 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:530000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_25792000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:480 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0022576 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007639 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0022584 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017666 biolink:NamedThing diffuse palmoplantar keratoderma phenio_relaxed_subqs.owl MONDO:0007852 biolink:NamedThing palmoplantar keratoderma-deafness syndrome Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance. phenio_relaxed_subqs.owl MONDO:0007853 biolink:NamedThing palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome phenio_relaxed_subqs.owl MONDO:0007857 biolink:NamedThing keratosis palmaris et plantaris-clinodactyly syndrome Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant. phenio_relaxed_subqs.owl MONDO:0007866 biolink:NamedThing Bart-Pumphrey syndrome phenio_relaxed_subqs.owl MONDO:0008416 biolink:NamedThing palmoplantar keratoderma-sclerodactyly syndrome phenio_relaxed_subqs.owl MONDO:0009145 biolink:NamedThing SchC6pf-Schulz-Passarge syndrome A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy. phenio_relaxed_subqs.owl MONDO:0009491 biolink:NamedThing Haim-Munk syndrome Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. phenio_relaxed_subqs.owl MONDO:0009773 biolink:NamedThing odonto-onycho-dermal dysplasia A form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair. phenio_relaxed_subqs.owl MONDO:0011017 biolink:NamedThing Naxos disease Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma. phenio_relaxed_subqs.owl MONDO:0011882 biolink:NamedThing skin fragility-woolly hair-palmoplantar keratoderma syndrome phenio_relaxed_subqs.owl MONDO:0012290 biolink:NamedThing CEDNIK syndrome CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. phenio_relaxed_subqs.owl MONDO:0012530 biolink:NamedThing palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown. phenio_relaxed_subqs.owl MONDO:0014089 biolink:NamedThing corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome phenio_relaxed_subqs.owl MONDO:0014131 biolink:NamedThing hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome phenio_relaxed_subqs.owl MONDO:0017667 biolink:NamedThing isolated diffuse palmoplantar keratoderma A diffuse palmoplantar keratoderma that is not part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0017670 biolink:NamedThing autosomal dominant diffuse mutilating palmoplantar keratoderma phenio_relaxed_subqs.owl MONDO:0019489 biolink:NamedThing diffuse palmoplantar keratoderma - acrocyanosis syndrome Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant. phenio_relaxed_subqs.owl MONDO:0100113 biolink:NamedThing hearing loss with skin disease Nonsyndromic deafness, keratitis-ichthyosis-deafness syndrome, and palmoplantar keratoderma with deafness have all been associated with autosomal dominant variants in GJB2. Reported cases share hearing loss as a feature, therefore it is likely that these phenotypes exist along a spectrum of the same disease, differing in severity of skin phenotypes. phenio_relaxed_subqs.owl OBO:SCTID_400123002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:307141 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0022603 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008420 biolink:NamedThing seborrheic keratosis A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions. phenio_relaxed_subqs.owl DOID:6498 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003108 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_L82 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017492 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001337 biolink:NamedThing inflamed seborrheic keratosis phenio_relaxed_subqs.owl MONDO:0006563 biolink:NamedThing inverted follicular keratosis Seborrheic keratosis that arises from follicular structures in the skin. It presents as a solitary nodule in the skin and is characterized by the presence of prominent squamous eddies. phenio_relaxed_subqs.owl MONDO:0006579 biolink:NamedThing melanoacanthoma A benign, darkly pigmented skin lesion characterized by proliferation of keratinocytes and melanocytes. phenio_relaxed_subqs.owl MONDO:0006622 biolink:NamedThing vulvar seborrheic keratosis A benign squamous neoplasm that arises from the vulva. It is characterized by the proliferation of the basal cells in the squamous epithelium, acanthosis, hyperkeratosis, and cysts formation. phenio_relaxed_subqs.owl MONDO:0021607 biolink:NamedThing eyelid seborrheic keratosis A seborrheic keratosis that involves the eyelid. phenio_relaxed_subqs.owl NCIT:C9006 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:182000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005584 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0022716 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1838 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001521 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007706 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C75486 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:309400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_59178007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:565 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0022735 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006823 biolink:NamedThing Klinefelter syndrome A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present. phenio_relaxed_subqs.owl DOID:1921 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007713 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34752 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_405769009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0022739 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007864 biolink:NamedThing angioosteohypertrophic syndrome Angio-osteohypertrophic (AOH) syndrome is a congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb. phenio_relaxed_subqs.owl UMLS:CN201567 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2926 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003122 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007715 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012017 biolink:NamedThing Parkes Weber syndrome Parkes Weber syndrome (PWS) is a rare congenital condition characterized by a large number of abnormal blood vessels.The main signs and symptoms of PWS typically include a capillary malformation on the skin; hypertrophy (excessive growth) ofthe bone and soft tissue of the affected limb; and multiple arteriovenousfistulas (abnormal connections between arteries and veins) which canpotentially lead to heart failure. There also may be pain in the affected limb and a difference in size between the limbs. Some cases of Parkes Weber syndrome result from mutations inthe RASA1 gene, andare inherited in an autosomal dominant manner. In these cases, affected people usually have multiple capillary malformations. People with PWS without multiple capillary malformations are unlikely to have mutations in the RASA1 gene; in these cases, the cause of the condition is often unknown. Management typically depends on the presence and severity of symptoms and may includeembolization or surgery in the affected limb. phenio_relaxed_subqs.owl NCIT:C84801 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:149000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721105004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007334 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2346 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0022783 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006491 biolink:NamedThing vulvar lichen sclerosus A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia. phenio_relaxed_subqs.owl OBO:MESH_D007724 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27723 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000623 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0022790 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004829 biolink:NamedThing Krukenberg carcinoma Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast. phenio_relaxed_subqs.owl DOID:9597 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008627 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007725 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3153 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_359987004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000316 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0022797 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205864 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010973 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008083 biolink:NamedThing ceroid lipofuscinosis, neuronal, 4 (Kufs type) A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. phenio_relaxed_subqs.owl MONDO:0008768 biolink:NamedThing ceroid lipofuscinosis, neuronal, 6B (Kufs type) Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN6 gene. phenio_relaxed_subqs.owl MONDO:0012414 biolink:NamedThing neuronal ceroid lipofuscinosis 10 A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. phenio_relaxed_subqs.owl MONDO:0013866 biolink:NamedThing neuronal ceroid lipofuscinosis 11 Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the GRN gene. phenio_relaxed_subqs.owl MONDO:0014147 biolink:NamedThing neuronal ceroid lipofuscinosis 13 Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CTSF gene. phenio_relaxed_subqs.owl OBO:SCTID_62009002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79262 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0022802 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006825 biolink:NamedThing kuru A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773) phenio_relaxed_subqs.owl DOID:648 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007617 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A81.81 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_046.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007729 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009500 biolink:NamedThing kuru, susceptibility to phenio_relaxed_subqs.owl OBO:SCTID_86188000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:454745 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0022806 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006826 biolink:NamedThing kwashiorkor A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed) phenio_relaxed_subqs.owl DOID:13579 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E40 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_260 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007732 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_58262005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0022810 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11320 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008257 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A98.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_065.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007733 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000310 biolink:NamedThing Alkhurma hemorrhagic fever A disease caused by infection with Alkhumra hemorrhagic fever virus. phenio_relaxed_subqs.owl OBO:SCTID_23097003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:319254 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0022893 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1468 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3930 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_H83.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_386.30 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007762 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001507 biolink:NamedThing viral labyrinthitis An labyrinthitis caused by infection with Viruses. phenio_relaxed_subqs.owl MONDO:0001739 biolink:NamedThing purulent labyrinthitis A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma. phenio_relaxed_subqs.owl MONDO:0001820 biolink:NamedThing focal labyrinthitis A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma. phenio_relaxed_subqs.owl MONDO:0001874 biolink:NamedThing toxic labyrinthitis A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic. phenio_relaxed_subqs.owl MONDO:0002006 biolink:NamedThing serous labyrinthitis A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections. phenio_relaxed_subqs.owl MONDO:0002812 biolink:NamedThing infectious otitis interna Inflammation of the anatomical structures of the inner ear secondary to an infectious process. Symptoms include severe vertigo, nausea, vomiting, anxiety, and pain. Viral etiology is most common, and recent history of an upper respiratory infection is common. In rare cases an infection of the middle ear can spread to the inner ear, resulting in a bacterial or fungal etiology. phenio_relaxed_subqs.owl NCIT:C128369 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_23919004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0022951 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0100345 biolink:NamedThing lactose intolerance phenio_relaxed_subqs.owl DOID:10604 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006065 biolink:NamedThing lactose intolerance adult type Adult onset lactose intolerance phenio_relaxed_subqs.owl NCIT:C3154 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_267425008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000062 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0022972 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018556 biolink:NamedThing Lambert-Eaton myasthenic syndrome Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC). phenio_relaxed_subqs.owl DOID:0050214 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006851 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015624 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3155 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_56989000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:43393 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023003 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007874 biolink:NamedThing trichorhinophalangeal syndrome type II Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability. phenio_relaxed_subqs.owl DOID:4998 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007801 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015826 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C75118 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:150230 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_41069008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:502 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023092 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9537 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A96.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007835 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128418 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_19065005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007338 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99824 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023138 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009514 biolink:NamedThing Laurence-Moon syndrome A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy. phenio_relaxed_subqs.owl DOID:1930 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012635 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007849 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34760 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:245800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_232059000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2377 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023240 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005823 biolink:NamedThing legionellosis Any disease caused by Legionella bacteria. phenio_relaxed_subqs.owl UMLS:CN205282 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10458 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007876 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020487 biolink:NamedThing Pontiac fever Pontiac fever (PF) is a mild form of legionellosis manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia. phenio_relaxed_subqs.owl NCIT:C128334 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_26726000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007342 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:549 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:600832 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023264 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009723 biolink:NamedThing Leigh syndrome A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions. phenio_relaxed_subqs.owl DOID:3652 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006877 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007888 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008069 biolink:NamedThing necrotizing encephalomyelopathy, subacute, of Leigh, adult phenio_relaxed_subqs.owl MONDO:0009069 biolink:NamedThing congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development. phenio_relaxed_subqs.owl MONDO:0016814 biolink:NamedThing maternally-inherited Leigh syndrome Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA. phenio_relaxed_subqs.owl MONDO:0016815 biolink:NamedThing Leigh syndrome with leukodystrophy phenio_relaxed_subqs.owl MONDO:0016816 biolink:NamedThing Leigh syndrome with nephrotic syndrome phenio_relaxed_subqs.owl MONDO:0019083 biolink:NamedThing Leigh syndrome with cardiomyopathy phenio_relaxed_subqs.owl NCIT:C84814 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:256000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_29570005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:506 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023281 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011989 biolink:NamedThing leishmaniasis Infectious disease that is transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration). phenio_relaxed_subqs.owl DOID:9065 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006881 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B55 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_085.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007896 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005446 biolink:NamedThing cutaneous leishmaniasis Leishmaniasis affecting the skin. It is the most common form of leishmaniasis. It presents with erythematous macules and papules, and nodules which may eventually ulcerate. The lesions appear in the bite site in the exposed skin areas. phenio_relaxed_subqs.owl MONDO:0005859 biolink:NamedThing mucocutaneous leishmaniasis The most common form of leishmaniasis that is transmitted through the bite of female phlebotomine sand flies or after exposure to leishmania parasites. It is characterized by skin lesions at the site of insect bite which typically develop within weeks or months after exposure. The lesions typically progress from small papules to open sores with raised borders and central ulcers which can be covered with scales or crust. phenio_relaxed_subqs.owl NCIT:C34767 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_80612004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005044 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:507 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023283 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9111 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B55.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_085.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016773 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0043904 biolink:NamedThing leishmaniasis, diffuse cutaneous A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement. phenio_relaxed_subqs.owl NCIT:C34770 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_186807008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005046 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023290 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9146 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B55.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_085.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007898 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012660 biolink:NamedThing susceptibility to visceral leishmaniasis, 2 phenio_relaxed_subqs.owl MONDO:0012661 biolink:NamedThing susceptibility to visceral leishmaniasis, 3 phenio_relaxed_subqs.owl MONDO:0021012 biolink:NamedThing susceptibility to visceral leishmaniasis, 1 phenio_relaxed_subqs.owl NCIT:C34771 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_608207 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_186803007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005045 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023343 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005124 biolink:NamedThing leprosy Leprosy is a chronic infectious disease affecting primarily the skin and peripheral nervous system. phenio_relaxed_subqs.owl DOID:1024 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006886 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A30 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_030.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007918 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005125 biolink:NamedThing borderline leprosy A form of leprosy in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms. phenio_relaxed_subqs.owl MONDO:0005126 biolink:NamedThing tuberculoid leprosy A principal or polar form of leprosy in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (leprosy, lepromatous), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others. phenio_relaxed_subqs.owl MONDO:0005127 biolink:NamedThing lepromatous leprosy A chronic communicable infection which is a principal or polar form of leprosy. This disorder is caused by mycobacterium leprae and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage. phenio_relaxed_subqs.owl MONDO:0012358 biolink:NamedThing leprosy, susceptibility to, 1 phenio_relaxed_subqs.owl MONDO:0013257 biolink:NamedThing leprosy, susceptibility to, 6 phenio_relaxed_subqs.owl MONDO:0041751 biolink:NamedThing multibacillary leprosy A lepromatous form of leprosy that is characterized by numerous infiltrated skin lesions displaying high bacillary loads, impaired peripheral nerves, possible involvement of internal organs, and a Th2-mediated immune response. phenio_relaxed_subqs.owl MONDO:0041752 biolink:NamedThing paucibacillary leprosy A tuberculoid form of leprosy that is characterized by a small number of hypopigmented, well-bordered, anesthetic skin lesions with a low bacillary load, early peripheral nerve impairment, and a T-helper 1 (Th1)–mediated immune response. phenio_relaxed_subqs.owl NCIT:C84824 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_81004002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0001054 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:548 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023346 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3251797 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1023 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A30.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015439 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_400154003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0001055 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023348 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10887 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A30.5 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_030.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015440 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_21560005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0001057 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023351 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1025 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A30.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_030.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015441 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_70143003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0001056 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023364 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005825 biolink:NamedThing leptospirosis A contagious bacterial infection caused by spirochetes of the genus Leptospira. Humans are infected by contact with water and soil which have been contaminated with animal waste products. The signs and symptoms include an initial flu-like phase, followed by a second phase in which patients may develop meningitis, liver failure and renal failure. phenio_relaxed_subqs.owl DOID:2297 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007881 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A27 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007922 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0043004 biolink:NamedThing Weil's disease A jauncice caused by severe leptospirosis. phenio_relaxed_subqs.owl NCIT:C84825 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_77377001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007344 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:509 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023370 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0043683 biolink:NamedThing Leriche syndrome An atherosclerotic disorder of the peripheral vascular system affecting mostly males in their later decades. It is caused by thrombotic occlusion of the abdominal aorta just above the level of the bifurcation. Clinical signs include impotence, intermittent claudication, diminished femoral pulses and cold, pallid lower extremities. Prognosis is favorable with surgical or endovascular intervention. phenio_relaxed_subqs.owl OBO:MESH_D007925 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34773 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_307816004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023374 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010298 biolink:NamedThing Lesch-Nyhan syndrome Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems. phenio_relaxed_subqs.owl UMLS:CN205196 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1919 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007226 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E79.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007926 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010642 biolink:NamedThing Lesch-Nyhan phenotype with normal HGPRT phenio_relaxed_subqs.owl NCIT:C61255 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300322 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_10406007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:510 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023464 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020322 biolink:NamedThing acute biphenotypic leukemia An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001) phenio_relaxed_subqs.owl DOID:9953 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015456 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4673 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_278453007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000828 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98837 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023520 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019046 biolink:NamedThing leukodystrophy Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems. phenio_relaxed_subqs.owl UMLS:CN228461 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050987 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060786 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10579 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006895 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_330.0 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008215 biolink:NamedThing adult-onset autosomal dominant demyelinating leukodystrophy Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment. phenio_relaxed_subqs.owl MONDO:0008752 biolink:NamedThing Alexander disease Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death. phenio_relaxed_subqs.owl MONDO:0009092 biolink:NamedThing polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities. phenio_relaxed_subqs.owl MONDO:0009093 biolink:NamedThing dermatoleukodystrophy Dermatoleukodystrophy is characterised by the association of a progressive leukodystrophy marked by generalised mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood. phenio_relaxed_subqs.owl MONDO:0009499 biolink:NamedThing Krabbe disease A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms. phenio_relaxed_subqs.owl MONDO:0009843 biolink:NamedThing hypomyelinating leukodystrophy 3 Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene. phenio_relaxed_subqs.owl MONDO:0010031 biolink:NamedThing Sjogren-Larsson syndrome A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity. phenio_relaxed_subqs.owl MONDO:0010079 biolink:NamedThing Canavan disease A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay. phenio_relaxed_subqs.owl MONDO:0010714 biolink:NamedThing Pelizaeus-Merzbacher disease Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD. phenio_relaxed_subqs.owl MONDO:0010733 biolink:NamedThing hereditary spastic paraplegia 2 Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG. phenio_relaxed_subqs.owl MONDO:0011380 biolink:NamedThing leukoencephalopathy with vanishing white matter A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes ``foamy'' aspect. phenio_relaxed_subqs.owl MONDO:0011391 biolink:NamedThing megalencephalic leukoencephalopathy with subcortical cysts Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions. phenio_relaxed_subqs.owl MONDO:0011897 biolink:NamedThing leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome is characterised by ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far, eight cases have been described. phenio_relaxed_subqs.owl MONDO:0012073 biolink:NamedThing ribose-5-P isomerase deficiency Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy. phenio_relaxed_subqs.owl MONDO:0012125 biolink:NamedThing hypomyelinating leukodystrophy 2 Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene. phenio_relaxed_subqs.owl MONDO:0012198 biolink:NamedThing PCWH syndrome Waardenburg-Shah syndrome, neurologic variant, also referred to as Peripheral demyelinating neuropathy, Central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH), is characterized by the association of the features of WSS (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy. phenio_relaxed_subqs.owl MONDO:0012514 biolink:NamedThing hypomyelinating leukodystrophy 5 Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit. phenio_relaxed_subqs.owl MONDO:0012622 biolink:NamedThing leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter. phenio_relaxed_subqs.owl MONDO:0012824 biolink:NamedThing hypomyelinating leukodystrophy 4 Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene. phenio_relaxed_subqs.owl MONDO:0012905 biolink:NamedThing hypomyelinating leukodystrophy 6 Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria. phenio_relaxed_subqs.owl MONDO:0013058 biolink:NamedThing cystic leukoencephalopathy without megalencephaly Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive. phenio_relaxed_subqs.owl MONDO:0013391 biolink:NamedThing sterol carrier protein 2 deficiency A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy. phenio_relaxed_subqs.owl MONDO:0013722 biolink:NamedThing hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene. phenio_relaxed_subqs.owl MONDO:0013971 biolink:NamedThing leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward. phenio_relaxed_subqs.owl MONDO:0014115 biolink:NamedThing hypomyelination with brain stem and spinal cord involvement and leg spasticity phenio_relaxed_subqs.owl MONDO:0014292 biolink:NamedThing leukoencephalopathy with mild cerebellar ataxia and white matter edema phenio_relaxed_subqs.owl MONDO:0014464 biolink:NamedThing progressive encephalopathy with leukodystrophy due to DECR deficiency Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop. phenio_relaxed_subqs.owl MONDO:0014506 biolink:NamedThing hypomyelinating leukodystrophy 9 Any leukodystrophy in which the cause of the disease is a mutation in the RARS gene. phenio_relaxed_subqs.owl MONDO:0014611 biolink:NamedThing multiple mitochondrial dysfunctions syndrome 4 Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene. phenio_relaxed_subqs.owl MONDO:0014632 biolink:NamedThing hypomyelinating leukodystrophy 10 Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene. phenio_relaxed_subqs.owl MONDO:0014666 biolink:NamedThing hypomyelinating leukodystrophy 11 Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene. phenio_relaxed_subqs.owl MONDO:0014732 biolink:NamedThing hypomyelinating leukodystrophy 12 Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene. phenio_relaxed_subqs.owl MONDO:0014813 biolink:NamedThing hypomyelinating leukodystrophy 13 Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene. phenio_relaxed_subqs.owl MONDO:0015348 biolink:NamedThing leukoencephalopathy with bilateral anterior temporal lobe cysts Leukoencephalopathy with bilateral anterior temporal lobe cysts is a nonprogressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested. phenio_relaxed_subqs.owl MONDO:0015349 biolink:NamedThing progressive cavitating leukoencephalopathy Progressive cavitating leukoencephalopathy is characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability. phenio_relaxed_subqs.owl MONDO:0017226 biolink:NamedThing Pelizaeus-Merzbacher-like disease Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD). phenio_relaxed_subqs.owl MONDO:0018247 biolink:NamedThing CADDS phenio_relaxed_subqs.owl MONDO:0018544 biolink:NamedThing adrenoleukodystrophy A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency. phenio_relaxed_subqs.owl MONDO:0018576 biolink:NamedThing non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy phenio_relaxed_subqs.owl MONDO:0018866 biolink:NamedThing Aicardi-Goutieres syndrome Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis. phenio_relaxed_subqs.owl MONDO:0018868 biolink:NamedThing metachromatic leukodystrophy A rare lysosomal storage disorder characterized byintralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function. phenio_relaxed_subqs.owl MONDO:0019177 biolink:NamedThing odontoleukodystrophy Leukodystrophy with oligodontia is characterised by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive. phenio_relaxed_subqs.owl MONDO:0019234 biolink:NamedThing peroxisome biogenesis disorder Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD). phenio_relaxed_subqs.owl MONDO:0019397 biolink:NamedThing unknown leukodystrophy phenio_relaxed_subqs.owl MONDO:0020505 biolink:NamedThing ravine syndrome Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies. phenio_relaxed_subqs.owl MONDO:0025701 biolink:NamedThing leukodystrophy, hypomyelinating, 22 phenio_relaxed_subqs.owl MONDO:0030263 biolink:NamedThing leukodystrophy, hypomyelinating, 21 phenio_relaxed_subqs.owl MONDO:0030514 biolink:NamedThing leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy phenio_relaxed_subqs.owl MONDO:0032705 biolink:NamedThing neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination phenio_relaxed_subqs.owl MONDO:0032730 biolink:NamedThing leukodystrophy, hypomyelinating, 18 phenio_relaxed_subqs.owl MONDO:0032871 biolink:NamedThing leukodystrophy, hypomyelinating, 19, transient infantile phenio_relaxed_subqs.owl MONDO:0033043 biolink:NamedThing spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy phenio_relaxed_subqs.owl MONDO:0033486 biolink:NamedThing leukodystrophy, hypomyelinating, 14 phenio_relaxed_subqs.owl MONDO:0033657 biolink:NamedThing leukodystrophy, hypomyelinating, 20 phenio_relaxed_subqs.owl MONDO:0034143 biolink:NamedThing early-onset calcifying leukoencephalopathy-skeletal dysplasia phenio_relaxed_subqs.owl MONDO:0044642 biolink:NamedThing c11orf73-related autosomal recessive hypomyelinating leukodystrophy phenio_relaxed_subqs.owl MONDO:0044718 biolink:NamedThing alkaline ceramidase 3 deficiency phenio_relaxed_subqs.owl MONDO:0054782 biolink:NamedThing leukodystrophy, hypomyelinating, 15 phenio_relaxed_subqs.owl MONDO:0054791 biolink:NamedThing leukodystrophy, hypomyelinating, 16 phenio_relaxed_subqs.owl MONDO:0054817 biolink:NamedThing leukodystrophy, hypomyelinating, 17 phenio_relaxed_subqs.owl MONDO:0800027 biolink:NamedThing leukoencephalopathy, diffuse hereditary, with spheroids 1 A rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy. phenio_relaxed_subqs.owl NCIT:C61253 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_312080 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_192781003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:68356 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023521 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10587 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006844 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E75.23 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007965 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016089 biolink:NamedThing infantile Krabbe disease phenio_relaxed_subqs.owl MONDO:0016090 biolink:NamedThing late-infantile/juvenile Krabbe disease phenio_relaxed_subqs.owl NCIT:C61254 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:245200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_189979005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:487 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023522 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10581 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007966 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007981 biolink:NamedThing metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A phenio_relaxed_subqs.owl MONDO:0009590 biolink:NamedThing metachromatic leukodystrophy due to saposin b deficiency phenio_relaxed_subqs.owl MONDO:0009591 biolink:NamedThing metachromatic leukodystrophy, juvenile form Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes. phenio_relaxed_subqs.owl NCIT:C61251 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_66521008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:512 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023569 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019862 biolink:NamedThing levocardia A condition where the heart is in the correct anatomic position but some or all of the other thoracoabdominal viscera are in the opposite lateral orientation. phenio_relaxed_subqs.owl OBO:GARD_0012032 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_Q24.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007979 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C111647 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_205769006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:95854 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023652 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007899 biolink:NamedThing lichen sclerosus et atrophicus A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis. phenio_relaxed_subqs.owl OBO:GARD_0006905 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_L90.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018459 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C26817 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:151590 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_25674000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:33409 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023787 biolink:NamedThing phenio_relaxed_subqs.owl DOID:811 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_272.6 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008060 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019194 biolink:NamedThing localized lipodystrophy Localised lipodystrophies are characterised by loss of subcutaneous tissue from small regions of the body. phenio_relaxed_subqs.owl MONDO:0020087 biolink:NamedThing genetic lipodystrophy Genetic lipodystrophy. phenio_relaxed_subqs.owl MONDO:0020089 biolink:NamedThing acquired lipodystrophy An instance of lipodystrophy (disease) that is acquired during the lifetime of the individual. phenio_relaxed_subqs.owl MONDO:0027766 biolink:NamedThing generalized lipodystrophy Almost complete absence of subcutaneous and/or visceral adipose tissue. phenio_relaxed_subqs.owl MONDO:0027767 biolink:NamedThing partial lipodystrophy Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body. phenio_relaxed_subqs.owl NCIT:C97093 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_71325002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000727 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023788 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930851 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204440 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8476 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007889 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_K90.81 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_040.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008061 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85228 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_41545003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000775 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3452 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023795 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009530 biolink:NamedThing lipoid proteinosis Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications. phenio_relaxed_subqs.owl DOID:14498 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003268 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008065 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84829 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:247100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_38692000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:530 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023798 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005106 biolink:NamedThing lipoma A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue. phenio_relaxed_subqs.owl DOID:3315 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008067 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000961 biolink:NamedThing endobronchial lipoma A rare benign adipose tissue neoplasm located within the lumen of a bronchus. It is predominantly found in males and usually originates within the fatty tissue between bronchial cartilage. May cause irreversible pulmonary damage distally. Two-thirds of the tumors occur on the right side and most are located on the first three subdivisions of the tracheobronchial tree. phenio_relaxed_subqs.owl MONDO:0000962 biolink:NamedThing spindle cell lipoma A benign circumscribed tumor composed of spindled cells, adipocytes, and collagen bundles. There is no evidence of nuclear hyperchromasia or mitotic activity. phenio_relaxed_subqs.owl MONDO:0000963 biolink:NamedThing esophageal lipoma A benign adipose tissue neoplasm of the esophagus. Clinical presentation includes obstruction, dysphagia, regurgitation, vomiting and reflux. It may be associated with aspiration and consecutive respiratory infections. phenio_relaxed_subqs.owl MONDO:0000964 biolink:NamedThing skin lipoma A benign or malignant adipose tissue neoplasm of the skin. phenio_relaxed_subqs.owl MONDO:0000965 biolink:NamedThing liver lipoma A rare benign adipose tissue neoplasm of the liver. phenio_relaxed_subqs.owl MONDO:0000966 biolink:NamedThing pleomorphic lipoma A benign circumscribed tumor characterized by small spindle cells, rounded hyperchromatic cells and multinucleated giant cells with radially arranged nuclei. phenio_relaxed_subqs.owl MONDO:0000967 biolink:NamedThing conventional lipoma A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones. phenio_relaxed_subqs.owl MONDO:0000968 biolink:NamedThing kidney lipoma A rare benign adipose tissue neoplasm of the kidney. It predominantly affects middle-aged females. It may originate from renal parenchymal fat or fat cells within the renal capsule. Clinical presentation includes hematuria and pain. phenio_relaxed_subqs.owl MONDO:0000969 biolink:NamedThing pleural lipoma A benign adipose tissue neoplasm of the pleural cavity. It may be purely intra-thoracic or extend to the chest wall. phenio_relaxed_subqs.owl MONDO:0000970 biolink:NamedThing breast lipoma A benign, mesenchymal neoplasm that arises from the breast. It is surrounded by a thin capsule and composed of mature adipose tissue cells. Atypia is absent. phenio_relaxed_subqs.owl MONDO:0000971 biolink:NamedThing chest wall lipoma A benign adipose tissue neoplasm of the chest wall. phenio_relaxed_subqs.owl MONDO:0000972 biolink:NamedThing gallbladder lipoma A benign adipose tissue neoplasm involving the gallbladder wall. phenio_relaxed_subqs.owl MONDO:0000973 biolink:NamedThing external ear lipoma A benign adipose tissue neoplasm of the external ear. phenio_relaxed_subqs.owl MONDO:0000974 biolink:NamedThing axillary lipoma A benign adipose tissue neoplasm of the axilla. phenio_relaxed_subqs.owl MONDO:0000975 biolink:NamedThing lipoma of spermatic cord A benign adipose tissue neoplasm of the spermatic cord. This is the most common tumor amongst the benign paratesticular lesions. phenio_relaxed_subqs.owl MONDO:0000976 biolink:NamedThing paratesticular lipoma A rare benign adipose tissue neoplasm of the paratesticular tissues. It is incidentally discovered and presents as a non-tender scrotal mass. It affects patients over a wide age range. phenio_relaxed_subqs.owl MONDO:0000977 biolink:NamedThing chondroid lipoma A rare benign adipose tissue neoplasm characterized by nests and cord of abundant univacuolated and multivacuolated lipoblasts and mature adipocytes in a prominent myxoid to hyalinized chondroid matrix admix. It predominantly affects females. phenio_relaxed_subqs.owl MONDO:0000978 biolink:NamedThing extrahepatic bile duct lipoma A rare benign adipose tissue neoplasm of the extrahepatic bile duct. phenio_relaxed_subqs.owl MONDO:0001091 biolink:NamedThing lipoma of colon A benign adipose tissue neoplasm originating in the colon. It is the second most common benign lesion of the colon after benign adenomatous polyps. Older patients are more likely to be affected, and most lesions are located at the right side of large bowel. Colon lipomas may lead to intestinal obstruction. phenio_relaxed_subqs.owl MONDO:0001790 biolink:NamedThing spinal cord lipoma A benign adipose tissue neoplasm of the spinal cord. It is usually associated with dysraphism in which the intraspinal component communicates with a subcutaneous lipoma through a defect in the posterior elements of the spine. Non-dysraphic intramedullary spinal cord lipomas are very rare. phenio_relaxed_subqs.owl MONDO:0002163 biolink:NamedThing thymus lipoma A well-circumscribed tumor of the thymus composed of islands of normal thymic parenchyma and mature adipose tissue. It is not clear if thymolipoma is a neoplastic or non-neoplastic lesion. phenio_relaxed_subqs.owl MONDO:0003840 biolink:NamedThing epicardium lipoma A rare benign adipose tissue neoplasm of the epicardium of the heart. phenio_relaxed_subqs.owl MONDO:0003841 biolink:NamedThing heart lipoma A rare benign adipose tissue neoplasm of the heart usually originating in the epicardial or pericardial fatty tissue. phenio_relaxed_subqs.owl MONDO:0003843 biolink:NamedThing cerebral hemisphere lipoma A rare benign adipose tissue neoplasm within the cerebral hemisphere often associated with partial or complete agenesis of the corpus callosum. phenio_relaxed_subqs.owl MONDO:0003844 biolink:NamedThing central nervous system lipoma A rare benign adipose tissue neoplasm of the central nervous system frequently found in midline locations such as the corpus callosum, the quadrigeminal plate, the hypothalamus, the spinal canal or the cauda equina. Some contain Schwann cells, bone, cartilage or hamartomatous blood vessels. phenio_relaxed_subqs.owl MONDO:0003845 biolink:NamedThing corpus callosum lipoma A rare benign adipose tissue neoplasm of the corpus callosum. phenio_relaxed_subqs.owl MONDO:0003884 biolink:NamedThing lipoma of the rectum A benign adipose tissue neoplasm of the rectum. phenio_relaxed_subqs.owl MONDO:0003885 biolink:NamedThing colorectal lipoma A rare benign adipose tissue neoplasm arising from the wall of the colon and rectum. phenio_relaxed_subqs.owl MONDO:0003984 biolink:NamedThing internal auditory canal lipoma A rare benign adipose tissue neoplasm of the internal auditory canal, often presenting as an acoustic tumor. It may be intermixed with the vestibulocochlear nerve and may adhere to adjacent structures. phenio_relaxed_subqs.owl MONDO:0004075 biolink:NamedThing infiltrating lipoma A benign tumor, composed of lobules of mature adipocytes, that penetrates the surrounding tissue from which it arises. There is usually a higher local recurrence rate when compared with non-infiltrating lipomas. phenio_relaxed_subqs.owl MONDO:0004076 biolink:NamedThing tendon sheath lipoma A benign tumor, composed of mature adipocytes, that arises within the tendon sheath. phenio_relaxed_subqs.owl MONDO:0004077 biolink:NamedThing lumbosacral lipoma A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within the lumbosacral tissue of the spine. phenio_relaxed_subqs.owl MONDO:0006085 biolink:NamedThing angiolipoma A lipoma with prominent vascularity. The vascular tissue is more abundant at the periphery of the tumor and contains fibrin thrombi. It occurs more frequently in younger individuals as a painful subcutaneous nodule, often on the arms. phenio_relaxed_subqs.owl MONDO:0007909 biolink:NamedThing familial multiple lipomatosis Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported. phenio_relaxed_subqs.owl MONDO:0021168 biolink:NamedThing hibernoma A rare benign slow growing adipose tissue tumor, characterized by the presence of polygonal brown fat cells with multivacuolated and/or granular cytoplasm. The tumor is usually painless and is most often seen in young adults. phenio_relaxed_subqs.owl MONDO:0021437 biolink:NamedThing lipoma of stomach A lipoma that involves the stomach. phenio_relaxed_subqs.owl MONDO:0021630 biolink:NamedThing lipoma of face A lipoma that involves the face. phenio_relaxed_subqs.owl MONDO:0044885 biolink:NamedThing tonsillar lipoma A benign adipose tissue neoplasm of the tonsils. phenio_relaxed_subqs.owl NCIT:C3192 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_93163002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000759 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023801 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006574 biolink:NamedThing lipomatosis A neoplastic process characterized by diffuse overgrowth of mature adipose tissue. phenio_relaxed_subqs.owl DOID:3153 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008068 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006539 biolink:NamedThing diffuse lipomatosis A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. It has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy. phenio_relaxed_subqs.owl MONDO:0006578 biolink:NamedThing mediastinal lipomatosis A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the mediastinum. phenio_relaxed_subqs.owl MONDO:0006593 biolink:NamedThing pelvic lipomatosis A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. Clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. It predominately affects black males. phenio_relaxed_subqs.owl MONDO:0006612 biolink:NamedThing steroid lipomatosis A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the face, upper middle back, and sternal region. It is associated with adrenocortical steroid therapy or an increase in endogenous adrenocortical hormone. phenio_relaxed_subqs.owl MONDO:0007908 biolink:NamedThing multiple symmetric lipomatosis Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures). phenio_relaxed_subqs.owl MONDO:0013074 biolink:NamedThing encephalocraniocutaneous lipomatosis A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations. phenio_relaxed_subqs.owl MONDO:0035592 biolink:NamedThing congenital infiltrating lipomatosis of the face phenio_relaxed_subqs.owl MONDO:0043166 biolink:NamedThing pancreatic lipomatosis duodenal stenosis phenio_relaxed_subqs.owl NCIT:C3193 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_402693001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000728 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023804 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024445 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201658 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14116 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006957 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4392 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:151800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238902007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000737 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2398 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023806 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019346 biolink:NamedThing sialidosis type 1 Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life. phenio_relaxed_subqs.owl UMLS:CN206021 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007639 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_34960006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:812 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023860 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005828 biolink:NamedThing listeriosis A bacterial infection caused by Listeria monocytogenes. It occurs in newborns, elderly, and immunocompromised patients. The bacteria are transmitted through ingestion of contaminated food. Clinical manifestations include fever, muscle pain, respiratory distress, nausea, diarrhea, neck stiffness, irritability, seizures, and lethargy. phenio_relaxed_subqs.owl DOID:11573 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006915 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A32 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008088 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006836 biolink:NamedThing Listeria meningitis Inflammation of the meninges caused by listeria monocytogenes infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with immunologic deficiency syndromes. Clinical manifestations include fever, altered mentation, headache, meningeal signs, focal neurologic signs, and seizures. (From Medicine 1998 Sep;77(5):313-36) phenio_relaxed_subqs.owl NCIT:C82994 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007347 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:533 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023968 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13523 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003283 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B74.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008118 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34784 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_44250009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000729 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2404 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0023976 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002442 biolink:NamedThing long QT syndrome A condition that is characterized by episodes of fainting (syncope) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are Romano-Ward syndrome (also known as long QT syndrome 1) and Jervell-Lange Nielsen syndrome. phenio_relaxed_subqs.owl DOID:2843 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_I45.81 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008133 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019171 biolink:NamedThing familial long QT syndrome A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias. phenio_relaxed_subqs.owl NCIT:C34786 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024025 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10250 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008146 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007348 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024054 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007174 biolink:NamedThing Lown-Ganong-Levine syndrome Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia). phenio_relaxed_subqs.owl UMLS:C1862387 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13087 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_426.81 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008151 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:108950 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_55475008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:844 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024081 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006576 biolink:NamedThing Ludwig's angina Severe cellulitis of the submaxillary space with secondary involvement of the sublingual and submental space. It usually results from infection in the lower molar area or from a penetrating injury to the mouth floor. (From Dorland, 27th ed) phenio_relaxed_subqs.owl UMLS:C3247204 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4558 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008158 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_196542004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000730 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024106 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005830 biolink:NamedThing lumpy skin disease A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin. phenio_relaxed_subqs.owl OBO:MESH_D008166 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007349 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024110 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060317 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_513.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008169 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C99090 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_73452002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001362 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024116 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005766 biolink:NamedThing fungal lung infectious disease Pulmonary diseases caused by fungal infections, usually through hematogenous spread. phenio_relaxed_subqs.owl OBO:MESH_D008172 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000239 biolink:NamedThing adiaspiromycosis Adiaspiromycosis is a rare fungal infection in the lung and is caused by inhalation of spores of the saprophytic soil fungus Chrysosporium parvum var crescens (previously known as Emmonsia crescens). phenio_relaxed_subqs.owl MONDO:0004549 biolink:NamedThing cork-handlers' disease An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia. phenio_relaxed_subqs.owl MONDO:0004584 biolink:NamedThing maple bark strippers' lung phenio_relaxed_subqs.owl MONDO:0019121 biolink:NamedThing pneumocystosis Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci. The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localised to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole. phenio_relaxed_subqs.owl EFO:0007278 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024131 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006838 biolink:NamedThing lupus vulgaris A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the nasal mucosa; buccal mucosa; and conjunctival mucosa. phenio_relaxed_subqs.owl OBO:MESH_D008177 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_10528009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001023 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024137 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005282 biolink:NamedThing cutaneous lupus erythematosus An autoimmune disorder that manifests as different lupus-specific skin disorders; it can occur with systemic lupus erythematosus, or as a singular disease. phenio_relaxed_subqs.owl DOID:0050169 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006225 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008178 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015573 biolink:NamedThing subacute cutaneous lupus erythematosus Subacute cutaneous lupus erythematosus (SCLE) is a form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. SCLE is associated with anti-Ro/SSA antibodies and can be drug-induced. phenio_relaxed_subqs.owl MONDO:0015574 biolink:NamedThing chronic cutaneous lupus erythematosus Chronic cutaneous lupus erythematosus (CCLE) is a form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis. phenio_relaxed_subqs.owl MONDO:0041186 biolink:NamedThing Rowell syndrome A form of lupus erythematosus (discoid or systemic) with annular lesions of the skin like erythema multiforme associated with a characteristic pattern of immunological abnormalities. phenio_relaxed_subqs.owl MONDO:0044113 biolink:NamedThing bullous systemic lupus erythematosus A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption. phenio_relaxed_subqs.owl NCIT:C26819 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_7119001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0003834 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024138 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019558 biolink:NamedThing discoid lupus erythematosus A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE). phenio_relaxed_subqs.owl OBO:ICD10CM_L93.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008179 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C26820 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_200938002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90281 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024140 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_L93.1 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C117111 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_239891002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:163525 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024145 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019557 biolink:NamedThing chilblain lupus A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative. phenio_relaxed_subqs.owl UMLS:CN239336 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060386 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012500 biolink:NamedThing chilblain lupus 1 Any chilblain lupus in which the cause of the disease is a mutation in the TREX1 gene. phenio_relaxed_subqs.owl MONDO:0013739 biolink:NamedThing chilblain lupus 2 Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene. phenio_relaxed_subqs.owl MONDO:0018827 biolink:NamedThing familial chilblain lupus An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl ORPHA:90280 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024167 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004387 biolink:NamedThing luteoma of pregnancy A non-neoplastic and self-limited condition that occurs during pregnancy. It is characterized by proliferation of luteinized stromal cells that replace the normal ovarian stromal cells. It is usually manifested with bilateral multinodular ovarian masses. Treatment is not required. phenio_relaxed_subqs.owl UMLS:C1517842 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7880 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018311 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40445 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024198 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019632 biolink:NamedThing Lyme disease Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi. phenio_relaxed_subqs.owl DOID:11729 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012073 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A69.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008193 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C45161 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_48982009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0008510 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:91546 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024266 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001449 biolink:NamedThing lymphocytic choriomeningitis A form of meningitis caused by lymphocytic choriomeningitis virus. mice and other rodents serve as the natural hosts, and infection in humans usually occurs through inhalation or ingestion of infectious particles. Clinical manifestations include an influenza-like syndrome followed by stiff neck, alterations of mentation, ataxia, and incontinence. Maternal infections may result in fetal malformations and injury, including neonatal hydrocephalus, aqueductal stenosis, chorioretinitis, and microcephaly. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3) phenio_relaxed_subqs.owl DOID:12155 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A87.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008216 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024286 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13819 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009545 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_099.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008219 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C26822 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_186946009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007353 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024291 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015540 biolink:NamedThing hemophagocytic syndrome Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis). phenio_relaxed_subqs.owl UMLS:C3887558 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050120 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006589 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34792 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35439 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234437005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:158032 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024408 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007182 biolink:NamedThing Machado-Joseph disease Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations. phenio_relaxed_subqs.owl DOID:1440 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006801 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017827 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017174 biolink:NamedThing Machado-Joseph disease type 1 Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs. phenio_relaxed_subqs.owl MONDO:0017175 biolink:NamedThing Machado-Joseph disease type 2 Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs. phenio_relaxed_subqs.owl MONDO:0017176 biolink:NamedThing Machado-Joseph disease type 3 Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy. phenio_relaxed_subqs.owl MONDO:0042964 biolink:NamedThing Machado-Joseph disease type 4 A subtype of Machado-Joseph disease characterized by Parkinsonian symptoms that respond particularly well to levodopa treatment. phenio_relaxed_subqs.owl MONDO:0042965 biolink:NamedThing Machado-Joseph disease type 5 A subtype of Machado-Joseph disease characterized by resemblance to Hereditary Spastic Paraplegia; however, more research is needed to conclude the relationship between Type V MJD and hereditary spastic paraplegia. phenio_relaxed_subqs.owl NCIT:C84830 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:109150 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_91952008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98757 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024419 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0100280 biolink:NamedThing Waldenstrom macroglobulinemia phenio_relaxed_subqs.owl DOID:0060901 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007872 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_C88.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008258 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012491 biolink:NamedThing macroglobulinemia, Waldenstrom, 2 phenio_relaxed_subqs.owl MONDO:0100281 biolink:NamedThing macroglobulinemia, Waldenstrom, 1 phenio_relaxed_subqs.owl NCIT:C80307 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_153600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_WM biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:33226 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024449 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016823 biolink:NamedThing mycetoma Mycetomas are subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains. phenio_relaxed_subqs.owl OBO:GARD_0003862 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B47 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008271 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85505 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_410039003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2583 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024454 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013808 biolink:NamedThing Maffucci syndrome Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas. phenio_relaxed_subqs.owl DOID:0060221 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006958 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3213 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614569 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_46041001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:163634 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024473 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006844 biolink:NamedThing magnesium deficiency A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936) phenio_relaxed_subqs.owl OBO:ICD10CM_E61.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008275 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238118002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001029 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024530 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005136 biolink:NamedThing malaria Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly.Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired. phenio_relaxed_subqs.owl DOID:12365 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006961 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B53 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008288 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001601 biolink:NamedThing Plasmodium ovale malaria An malaria caused by infection with Plasmodium ovale. phenio_relaxed_subqs.owl MONDO:0001943 biolink:NamedThing Plasmodium malariae malaria Malaria resulting from infection by Plasmodium malariae. phenio_relaxed_subqs.owl MONDO:0001944 biolink:NamedThing mixed malaria A malaria that involves infection with more than one species of Plasmodium at the same time. phenio_relaxed_subqs.owl MONDO:0005625 biolink:NamedThing cerebral malaria A sequestration of Plasmodium falciparum in the brain, which can cause coma and/or seizures. phenio_relaxed_subqs.owl MONDO:0005920 biolink:NamedThing Plasmodium falciparum malaria Malaria resulting from infection by Plasmodium falciparum. phenio_relaxed_subqs.owl MONDO:0005921 biolink:NamedThing Plasmodium vivax malaria Malaria resulting from infection by Plasmodium vivax. phenio_relaxed_subqs.owl MONDO:0012663 biolink:NamedThing Plasmodium falciparum fever episodes quantitative trait locus 1 phenio_relaxed_subqs.owl NCIT:C34797 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_61462000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0001068 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:673 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024533 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008289 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024534 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14069 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016779 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128373 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_53622003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0006857 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024535 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14067 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_084.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016778 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34798 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_62676009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007444 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024536 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14324 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B52 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_084.2 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34799 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_27618009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024537 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12978 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B51 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_084.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016780 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_27052006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007445 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024633 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0043247 biolink:NamedThing Mallory-Weiss syndrome A disorder characterized by upper gastrointestinal tract bleeding caused by longitudinal mucosal tears in the gastroesophageal junction. The tears result from retching or forceful coughing. It was initially described in alcoholics. phenio_relaxed_subqs.owl OBO:GARD_0006967 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008309 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84881 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_35265002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024748 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009561 biolink:NamedThing alpha-mannosidosis Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit. phenio_relaxed_subqs.owl DOID:3413 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006968 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008363 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017732 biolink:NamedThing alpha-mannosidosis, infantile form phenio_relaxed_subqs.owl MONDO:0017733 biolink:NamedThing alpha-mannosidosis, adult form phenio_relaxed_subqs.owl MONDO:0022424 biolink:NamedThing alpha-mannosidosis type 1 phenio_relaxed_subqs.owl NCIT:C84548 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:248500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_65524005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:61 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024759 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1081 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008216 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B74.4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008368 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84882 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_240849009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007357 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2459 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024776 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009563 biolink:NamedThing maple syrup urine disease An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death. phenio_relaxed_subqs.owl DOID:9269 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003228 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E71.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008375 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009529 biolink:NamedThing pyruvate dehydrogenase E3 deficiency Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease. phenio_relaxed_subqs.owl MONDO:0017051 biolink:NamedThing classic maple syrup urine disease Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated. phenio_relaxed_subqs.owl MONDO:0017052 biolink:NamedThing intermediate maple syrup urine disease Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation. phenio_relaxed_subqs.owl MONDO:0017053 biolink:NamedThing intermittent maple syrup urine disease Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated. phenio_relaxed_subqs.owl MONDO:0017054 biolink:NamedThing thiamine-responsive maple syrup urine disease Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine. phenio_relaxed_subqs.owl MONDO:0023691 biolink:NamedThing maple syrup urine disease type 1A A maple syrup urine disease caused by mutations in BCKDHA. phenio_relaxed_subqs.owl MONDO:0023692 biolink:NamedThing maple syrup urine disease type 1B A maple syrup urine disease caused by mutations in BCKDHB. phenio_relaxed_subqs.owl MONDO:0023693 biolink:NamedThing maple syrup urine disease type 2 A maple syrup urine disease caused by mutations in DBT. phenio_relaxed_subqs.owl NCIT:C34806 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_248600 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:248600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_27718001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:511 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024788 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4327 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009444 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008379 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84883 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_77503002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007358 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99826 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024790 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0100244 biolink:NamedThing paroxysmal nocturnal hemoglobinuria Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events. phenio_relaxed_subqs.owl DOID:0060284 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007337 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010438 biolink:NamedThing paroxysmal nocturnal hemoglobinuria 1 Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene. phenio_relaxed_subqs.owl MONDO:0014166 biolink:NamedThing paroxysmal nocturnal hemoglobinuria 2 Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene. phenio_relaxed_subqs.owl NCIT:C61233 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_300818 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_1963002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:447 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024793 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016101 biolink:NamedThing neurolymphomatosis A transmissible viral disease of birds caused by avian herpesvirus 2 (herpesvirus 2, gallid) and other mardivirus. There is lymphoid cell infiltration or lymphomatous tumor formation in the peripheral nerves and gonads, but may also involve visceral organs, skin, muscle, and the eye. phenio_relaxed_subqs.owl OBO:GARD_0006974 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008380 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_766752000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:206586 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024796 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007947 biolink:NamedThing Marfan syndrome A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person. phenio_relaxed_subqs.owl UMLS:CN202883 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14323 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006975 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_759.82 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008382 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017309 biolink:NamedThing neonatal Marfan syndrome Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated. phenio_relaxed_subqs.owl NCIT:C34807 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:154700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_19346006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:284963 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:558 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024814 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009567 biolink:NamedThing Marinesco-Sjogren syndrome Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development. phenio_relaxed_subqs.owl DOID:0080195 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008341 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:248800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_80734006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:559 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024895 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008414 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001765 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024958 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006850 biolink:NamedThing maxillary sinus neoplasm A benign or malignant neoplasm that affects the maxillary sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. phenio_relaxed_subqs.owl DOID:1358 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008444 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001748 biolink:NamedThing maxillary sinus carcinoma A carcinoma that arises from the maxillary sinus. Representative examples include squamous cell carcinoma, adenocarcinoma, and adenoid cystic carcinoma. phenio_relaxed_subqs.owl MONDO:0021484 biolink:NamedThing benign neoplasm of maxillary sinus A benign neoplasm that involves the maxillary sinus. phenio_relaxed_subqs.owl NCIT:C3219 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_126676009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001035 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0024959 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2051 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015523 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002186 biolink:NamedThing acute maxillary sinusitis Acute form of maxillary sinusitis. phenio_relaxed_subqs.owl NCIT:C34809 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_88348008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007361 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0025007 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004619 biolink:NamedThing measles A highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (MMR). phenio_relaxed_subqs.owl DOID:8622 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003434 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B05 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008457 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C96406 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_14189004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1002025 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0025048 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006851 biolink:NamedThing meconium aspiration syndrome A serious condition in which a newborn breathes a mixture of meconium (the first intestinal discharge) and amniotic fluid into the lungs around the time of delivery. Meconium aspiration syndrome occurs in 5-10 percent of births and typically occurs when the infant is stressed, as when the infant is past its due date. phenio_relaxed_subqs.owl DOID:11049 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010494 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008471 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C87093 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_206292002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001037 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:70588 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0025184 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017799 biolink:NamedThing Meigs syndrome A rare syndrome affecting females. It is characterized by pleural effusion, ascites and non-malignant ovarian neoplasm. This syndrome usually follows a benign course. Prognosis is favorable following surgical resection of the ovarian mass. phenio_relaxed_subqs.owl OBO:MESH_D008539 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3223 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_63402005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314451 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0025202 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN971653 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1909 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008545 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000544 biolink:NamedThing mucosal melanoma A melanoma that arises from a mucosal site. phenio_relaxed_subqs.owl MONDO:0000928 biolink:NamedThing eyelid melanoma A melanoma that arises from the upper or lower eyelid. phenio_relaxed_subqs.owl MONDO:0001192 biolink:NamedThing esophageal melanoma A melanoma affecting the esophageal wall. Melanoma in the esophagus is more commonly metastatic than primary. Primary melanomas of the esophagus are polypoid and clinically aggressive. (WHO, 2000) phenio_relaxed_subqs.owl MONDO:0001652 biolink:NamedThing scrotum melanoma A melanoma (disease) that involves the scrotum. phenio_relaxed_subqs.owl MONDO:0001893 biolink:NamedThing spinal cord melanoma A melanoma (disease) that involves the spinal cord. phenio_relaxed_subqs.owl MONDO:0002096 biolink:NamedThing malignant conjunctival melanoma A malignant melanoma within the conjunctiva of the eye. phenio_relaxed_subqs.owl MONDO:0002167 biolink:NamedThing rectum malignant melanoma An aggressive malignant melanocytic neoplasm that arises from the rectum. phenio_relaxed_subqs.owl MONDO:0002205 biolink:NamedThing vulvar melanoma A usually pigmented, nodular or polypoid malignant neoplasm that originates from melanocytes and arises from the vulva. It presents with bleeding and dysuria. phenio_relaxed_subqs.owl MONDO:0002971 biolink:NamedThing amelanotic melanoma A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction. phenio_relaxed_subqs.owl MONDO:0002973 biolink:NamedThing epithelioid cell melanoma A melanoma characterized by the presence of malignant large epithelioid melanocytes. phenio_relaxed_subqs.owl MONDO:0002975 biolink:NamedThing malignant breast melanoma A melanoma that arises usually from the breast skin and less often from the breast glandular tissue. Primary breast melanomas are rare. phenio_relaxed_subqs.owl MONDO:0003761 biolink:NamedThing leptomeningeal melanoma A melanoma that arises from leptomeningeal melanocytes. phenio_relaxed_subqs.owl MONDO:0003878 biolink:NamedThing malignant choroid melanoma A uveal melanoma that arises from the choroid. It is the most common primary malignant intraocular tumor. It usually affects Caucasians of northern European descent. It usually remains asymptomatic for a long period. When signs and symptoms occur, they include blurred vision, visual field loss, floaters, and ocular pain. Tumor size is the most important factor that relates to prognosis. phenio_relaxed_subqs.owl MONDO:0003912 biolink:NamedThing malignant ciliary body melanoma A rare uveal melanoma that arises from the ciliary body. Patients may present with blurred vision, visual field loss, floaters, and ocular pain. The prognosis is usually poor. phenio_relaxed_subqs.owl MONDO:0004064 biolink:NamedThing iris melanoma A uveal melanoma that arises from the iris. It is the most common primary malignant neoplasm of the iris. The majority arise in preexisting nevi. phenio_relaxed_subqs.owl MONDO:0004141 biolink:NamedThing melanomatosis phenio_relaxed_subqs.owl MONDO:0004484 biolink:NamedThing gallbladder melanoma A melanoma that arises from the gallbladder. phenio_relaxed_subqs.owl MONDO:0004550 biolink:NamedThing malignant cornea melanoma A melanoma within the cornea of the eye. phenio_relaxed_subqs.owl MONDO:0004561 biolink:NamedThing retinal melanoma A melanoma affecting the retinal portion of the eye. --2003 phenio_relaxed_subqs.owl MONDO:0005012 biolink:NamedThing cutaneous melanoma A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma. phenio_relaxed_subqs.owl MONDO:0005191 biolink:NamedThing metastatic melanoma A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. phenio_relaxed_subqs.owl MONDO:0006081 biolink:NamedThing anal melanoma A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor. phenio_relaxed_subqs.owl MONDO:0006320 biolink:NamedThing non-cutaneous melanoma Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ) phenio_relaxed_subqs.owl MONDO:0006325 biolink:NamedThing ocular melanoma A melanoma that arises from the structures of the eye or ocular adnexa. phenio_relaxed_subqs.owl MONDO:0006427 biolink:NamedThing spindle cell melanoma A melanoma characterized by the presence of malignant spindle-shaped melanocytes. phenio_relaxed_subqs.owl MONDO:0006486 biolink:NamedThing uveal melanoma A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B. phenio_relaxed_subqs.owl MONDO:0006489 biolink:NamedThing vaginal melanoma A primary malignant neoplasm of the vagina composed of malignant melanocytes. phenio_relaxed_subqs.owl MONDO:0006749 biolink:NamedThing mixed epithelioid and spindle cell melanoma A melanoma characterized by the presence of malignant large epithelioid melanocytes and malignant spindle-shaped melanocytes. phenio_relaxed_subqs.owl MONDO:0015694 biolink:NamedThing malignant melanoma of the mucosa A melanoma (disease) that involves the mucosa. phenio_relaxed_subqs.owl MONDO:0016747 biolink:NamedThing primary melanoma of the central nervous system A melanoma that affects the central nervous system. It is characterized by pleomorphism, melanin pigmentation, a high mitotic rate, necrosis, and hemorrhage. It is a highly aggressive and radioresistant tumor. The prognosis is usually poor. phenio_relaxed_subqs.owl MONDO:0018961 biolink:NamedThing familial melanoma Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family. phenio_relaxed_subqs.owl MONDO:0022623 biolink:NamedThing CDK4 linked melanoma phenio_relaxed_subqs.owl MONDO:0042494 biolink:NamedThing childhood malignant melanoma A melanoma that occurs during childhood. phenio_relaxed_subqs.owl MONDO:0045070 biolink:NamedThing digestive system melanoma A melanoma that arises from any part of the digestive system. phenio_relaxed_subqs.owl NCIT:C3224 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_MEL biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_372244006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000756 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:411533 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0025221 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009552 biolink:NamedThing mal de Meleda Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema. phenio_relaxed_subqs.owl DOID:0060862 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000092 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:248300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_239069005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:87503 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0025229 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017775 biolink:NamedThing melioidosis An infection that is caused by Burkholderia pseudomallei, which is found in soil and water; symptoms vary widely, but most commonly include fever, cough, pneumonia, arthralgia, myalgia, and skin ulceration. phenio_relaxed_subqs.owl UMLS:C0348970 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0348971 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5052 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009546 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008554 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128336 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_186312003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:31202 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0025235 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007969 biolink:NamedThing Melkersson-Rosenthal syndrome The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected. phenio_relaxed_subqs.owl DOID:1761 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007010 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008556 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84886 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:155900 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001039 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2483 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0025267 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007540 biolink:NamedThing multiple endocrine neoplasia type 1 Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients. phenio_relaxed_subqs.owl DOID:10017 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003829 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_258.01 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018761 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3225 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:131100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_30664006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:652 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0025268 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008234 biolink:NamedThing multiple endocrine neoplasia type 2A Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 characterized by medullary thyroid carcinoma (MTC) in combination with pheochromocytoma and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells. phenio_relaxed_subqs.owl DOID:0050430 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004881 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018813 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3226 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:171400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721188000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:247698 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0025269 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008082 biolink:NamedThing multiple endocrine neoplasia type 2B Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal ganglioneuroma, and marfanoid habitus. phenio_relaxed_subqs.owl DOID:10016 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010225 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_258.03 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018814 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3227 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:162300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_61530001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:247709 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0025281 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007972 biolink:NamedThing Meniere disease A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops. phenio_relaxed_subqs.owl DOID:9849 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_386.00 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008575 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001727 biolink:NamedThing active cochleovestibular Meniere disease phenio_relaxed_subqs.owl MONDO:0001728 biolink:NamedThing active vestibular Meniere disease phenio_relaxed_subqs.owl MONDO:0001729 biolink:NamedThing active cochlear Meniere disease phenio_relaxed_subqs.owl OMIM:156000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_13445001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0006862 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:45360 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0025293 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11572 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008584 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_31568009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001021 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0025294 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018059 biolink:NamedThing meningococcal meningitis An acute bacterial disease caused by Neisseria meningitides that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability. phenio_relaxed_subqs.owl DOID:0080176 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A39.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_036.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008585 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_192644005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001040 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:33475 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0025295 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006913 biolink:NamedThing pneumococcal meningitis An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with otitis media; mastoiditis; sinusitis; respiratory tract infections; sickle cell disease (anemia, sickle cell); skull fractures; and other disorders. Clinical manifestations include fever; headache; neck stiffness; and somnolence followed by seizures; focal neurologic deficits (notably deafness); and coma. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111) phenio_relaxed_subqs.owl OBO:ICD10CM_G00.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_320.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008586 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_51169003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001114 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:55655 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0025297 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007015 biolink:NamedThing viral meningitis Inflammation of the membranes surrounding the brain and spinal cord due to a viral infection. phenio_relaxed_subqs.owl DOID:10310 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A87 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_047.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_321.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008587 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C118298 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_58170007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001236 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0025303 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007169 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009547 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A39 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_036.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008589 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_23511006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0004249 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0025322 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001119 biolink:NamedThing premature menopause Cessation of menstruation before the age of 40. Symptoms include hot flashes, night sweats, mood swings, and decreased sex drive. phenio_relaxed_subqs.owl DOID:10787 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008594 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C80099 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237788002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0025517 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0014667 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E70-E88 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10WHO_E70-E90 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_277.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008659 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000129 biolink:NamedThing glutaric aciduria phenio_relaxed_subqs.owl MONDO:0000226 biolink:NamedThing mineral metabolism disease phenio_relaxed_subqs.owl MONDO:0000721 biolink:NamedThing xanthinuria A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine. phenio_relaxed_subqs.owl MONDO:0001314 biolink:NamedThing chondrocalcinosis An acute episode of pain, swelling, and redness, sometimes associated with fever. It is caused by the deposition of calcium pyrophosphate crystals in the joints. phenio_relaxed_subqs.owl MONDO:0002908 biolink:NamedThing glucose metabolism disease A metabolic disorder characterized by abnormal blood glucose levels. phenio_relaxed_subqs.owl MONDO:0004955 biolink:NamedThing metabolic syndrome A combination of medical conditions that, when present, increase the risk of heart attack, stroke, and diabetes mellitus. It includes the following medical conditions: increased blood pressure, central obesity, abnormal cholesterol levels, and elevated fasting glucose. phenio_relaxed_subqs.owl MONDO:0005016 biolink:NamedThing diabetic kidney disease Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis. phenio_relaxed_subqs.owl MONDO:0005236 biolink:NamedThing xanthoma A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues. phenio_relaxed_subqs.owl MONDO:0006022 biolink:NamedThing acidosis disorder An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic. phenio_relaxed_subqs.owl MONDO:0006040 biolink:NamedThing lactic acidosis Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia. phenio_relaxed_subqs.owl MONDO:0006504 biolink:NamedThing acquired metabolic disease An instance of metabolic disease that is acquired during the lifetime of the individual. phenio_relaxed_subqs.owl MONDO:0010132 biolink:NamedThing familial thyroid dyshormonogenesis A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. phenio_relaxed_subqs.owl MONDO:0012803 biolink:NamedThing diarrhea-vomiting due to trehalase deficiency This syndrome is characterised by diarrhoea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms. phenio_relaxed_subqs.owl MONDO:0015327 biolink:NamedThing developmental anomaly of metabolic origin phenio_relaxed_subqs.owl MONDO:0017306 biolink:NamedThing disorder of phenylalanine metabolism phenio_relaxed_subqs.owl MONDO:0017307 biolink:NamedThing disorder of tyrosine metabolism phenio_relaxed_subqs.owl MONDO:0017773 biolink:NamedThing hypoalphalipoproteinemia A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood. phenio_relaxed_subqs.owl MONDO:0017904 biolink:NamedThing steroid dehydrogenase deficiency-dental anomalies syndrome Steroid dehydrogenase deficiency-dental anomalies syndrome is an autosomal recessive liver disease which was associated with numerical dental aberrations in a consanguineous Arabi Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease. phenio_relaxed_subqs.owl MONDO:0018151 biolink:NamedThing coenzyme Q10 deficiency A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency. phenio_relaxed_subqs.owl MONDO:0020696 biolink:NamedThing vitamin B12 deficiency A disease characterized by low serum levels of vitamin B12, either inherited or acquired. phenio_relaxed_subqs.owl MONDO:0020699 biolink:NamedThing biotin metabolic disease A deficiency in biotin through either inherited or acquired causes. phenio_relaxed_subqs.owl MONDO:0021162 biolink:NamedThing carotenemia phenio_relaxed_subqs.owl MONDO:0021179 biolink:NamedThing proteostasis deficiencies Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins. phenio_relaxed_subqs.owl MONDO:0024431 biolink:NamedThing bilirubin metabolism disease phenio_relaxed_subqs.owl MONDO:0041261 biolink:NamedThing disorder of acid-base balance phenio_relaxed_subqs.owl MONDO:0044092 biolink:NamedThing collagenous sprue A rare disorder affecting the digestive tract. Its cause is unclear but may be attributed, in part, to increased collagen synthesis without adequate fibrolysis. It is characterized histologically by atrophy of mucosal villi and crypts with extensive subepithelial collagen deposition. Clinical signs include nausea, vomiting, diarrhea and weight loss. Unlike celiac sprue (celiac disease), a gluten-free diet does not predict a certain regression of the disease. The clinical course follows a progression of malabsorption leading to nutritional deficiencies, small bowel ulceration/perforation, lymphoma and infection. Prognosis is usually dismal. phenio_relaxed_subqs.owl MONDO:0400003 biolink:NamedThing skeletal fluorosis A condition that results from excessive fluoride ingestion leading to fluoride accumulation in the bone progressively over many years. The early symptoms of skeletal fluorosis, include stiffness and pain in the joints. In severe cases, the bone structure may change and ligaments may calcify, with resulting impairment of muscles and pain. phenio_relaxed_subqs.owl NCIT:C3235 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_75934005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000589 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0025521 biolink:NamedThing phenio_relaxed_subqs.owl DOID:655 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008661 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000155 biolink:NamedThing triglyceride storage disease An acquired metabolic disease that is has its basis in the disruption of sequestering of triglyceride. phenio_relaxed_subqs.owl MONDO:0000210 biolink:NamedThing thiopurine metabolic disease phenio_relaxed_subqs.owl MONDO:0000214 biolink:NamedThing hypermanganesemia with dystonia phenio_relaxed_subqs.owl MONDO:0000351 biolink:NamedThing disorder of methionine catabolism An acquired metabolic disease that is has its basis in the disruption of methionine catabolic process. phenio_relaxed_subqs.owl MONDO:0000421 biolink:NamedThing inborn serine deficiency An acquired metabolic disease that is has its basis in the disruption of L-serine biosynthetic process. phenio_relaxed_subqs.owl MONDO:0000424 biolink:NamedThing inborn vitamin B12 deficiency Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement. phenio_relaxed_subqs.owl MONDO:0000510 biolink:NamedThing synucleinopathy A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ] phenio_relaxed_subqs.owl MONDO:0000688 biolink:NamedThing inherited organic acidemia An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage. phenio_relaxed_subqs.owl MONDO:0002273 biolink:NamedThing plasma protein metabolism disease An inherited metabolic disorder that involves plasma protein metabolism malfunction. phenio_relaxed_subqs.owl MONDO:0002470 biolink:NamedThing photosensitive trichothiodystrophy A trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway phenio_relaxed_subqs.owl MONDO:0002525 biolink:NamedThing inherited lipid metabolism disorder An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production. phenio_relaxed_subqs.owl MONDO:0004069 biolink:NamedThing inborn mitochondrial metabolism disorder Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes. phenio_relaxed_subqs.owl MONDO:0004689 biolink:NamedThing inborn metal metabolism disorder An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. phenio_relaxed_subqs.owl MONDO:0004736 biolink:NamedThing inherited amino acid metabolic disorder An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria. phenio_relaxed_subqs.owl MONDO:0005528 biolink:NamedThing inborn vitamin metabolic disorder An acquired metabolic disease that is has its basis in the disruption of vitamin metabolic process. phenio_relaxed_subqs.owl MONDO:0005775 biolink:NamedThing G6PD deficiency An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs. phenio_relaxed_subqs.owl MONDO:0007068 biolink:NamedThing adenylosuccinate lyase deficiency Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features. phenio_relaxed_subqs.owl MONDO:0007319 biolink:NamedThing chondrocalcinosis 2 A chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA). phenio_relaxed_subqs.owl MONDO:0007452 biolink:NamedThing maturity-onset diabetes of the young type 1 Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha. phenio_relaxed_subqs.owl MONDO:0007453 biolink:NamedThing maturity-onset diabetes of the young type 2 Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes. phenio_relaxed_subqs.owl MONDO:0007454 biolink:NamedThing type 1 diabetes mellitus 2 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the INS gene. phenio_relaxed_subqs.owl MONDO:0007620 biolink:NamedThing fish eye disease Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency. phenio_relaxed_subqs.owl MONDO:0007669 biolink:NamedThing renal cysts and diabetes syndrome Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome. phenio_relaxed_subqs.owl MONDO:0007690 biolink:NamedThing aromatase excess syndrome Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all. phenio_relaxed_subqs.owl MONDO:0008046 biolink:NamedThing autosomal dominant myoglobinuria Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997. phenio_relaxed_subqs.owl MONDO:0008272 biolink:NamedThing polysyndactyly 4 Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present. phenio_relaxed_subqs.owl MONDO:0008369 biolink:NamedThing proximal renal tubular acidosis Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis. phenio_relaxed_subqs.owl MONDO:0008926 biolink:NamedThing COFS syndrome Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement. phenio_relaxed_subqs.owl MONDO:0009070 biolink:NamedThing D-glyceric aciduria A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21. phenio_relaxed_subqs.owl MONDO:0009113 biolink:NamedThing hemolytic anemia due to diphosphoglycerate mutase deficiency A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly. phenio_relaxed_subqs.owl MONDO:0009259 biolink:NamedThing gamma-glutamylcysteine synthetase deficiency Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported. phenio_relaxed_subqs.owl MONDO:0009283 biolink:NamedThing glutaric acidemia type 3 Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive. phenio_relaxed_subqs.owl MONDO:0009285 biolink:NamedThing gamma-glutamyl transpeptidase deficiency Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine. phenio_relaxed_subqs.owl MONDO:0009556 biolink:NamedThing malonic aciduria Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD). phenio_relaxed_subqs.owl MONDO:0009623 biolink:NamedThing Nijmegen breakage syndrome Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections. phenio_relaxed_subqs.owl MONDO:0009665 biolink:NamedThing biotinidase deficiency Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development. phenio_relaxed_subqs.owl MONDO:0009825 biolink:NamedThing 5-oxoprolinase deficiency 5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria. phenio_relaxed_subqs.owl MONDO:0010118 biolink:NamedThing inherited threoninemia phenio_relaxed_subqs.owl MONDO:0010613 biolink:NamedThing inborn glycerol kinase deficiency An acquired metabolic disease that is has its basis in the disruption of glycerol kinase activity. phenio_relaxed_subqs.owl MONDO:0010781 biolink:NamedThing ataxia and polyneuropathy, adult-onset phenio_relaxed_subqs.owl MONDO:0010863 biolink:NamedThing type 1 diabetes mellitus 5 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the SUMO4 gene. phenio_relaxed_subqs.owl MONDO:0010894 biolink:NamedThing maturity-onset diabetes of the young type 3 Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha. phenio_relaxed_subqs.owl MONDO:0011027 biolink:NamedThing diabetes mellitus, noninsulin-dependent, 1 phenio_relaxed_subqs.owl MONDO:0011068 biolink:NamedThing type 1 diabetes mellitus 12 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CTLA4 gene. phenio_relaxed_subqs.owl MONDO:0011072 biolink:NamedThing diabetes mellitus, noninsulin-dependent, 2 phenio_relaxed_subqs.owl MONDO:0011168 biolink:NamedThing type 1 diabetes mellitus 10 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the IL2RA gene. phenio_relaxed_subqs.owl MONDO:0011225 biolink:NamedThing severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation. phenio_relaxed_subqs.owl MONDO:0011268 biolink:NamedThing renal tubular acidosis, distal, 3, with or without sensorineural hearing loss phenio_relaxed_subqs.owl MONDO:0011273 biolink:NamedThing H syndrome H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). phenio_relaxed_subqs.owl MONDO:0011363 biolink:NamedThing diabetes mellitus, noninsulin-dependent, 3 phenio_relaxed_subqs.owl MONDO:0011565 biolink:NamedThing metabolic syndrome X phenio_relaxed_subqs.owl MONDO:0011667 biolink:NamedThing maturity-onset diabetes of the young type 4 Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes. phenio_relaxed_subqs.owl MONDO:0011668 biolink:NamedThing maturity-onset diabetes of the young type 6 Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes. phenio_relaxed_subqs.owl MONDO:0011955 biolink:NamedThing diabetes mellitus, noninsulin-dependent, 4 phenio_relaxed_subqs.owl MONDO:0012192 biolink:NamedThing permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. phenio_relaxed_subqs.owl MONDO:0012348 biolink:NamedThing maturity-onset diabetes of the young type 8 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the CEL gene. phenio_relaxed_subqs.owl MONDO:0012436 biolink:NamedThing neonatal diabetes mellitus with congenital hypothyroidism A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others phenio_relaxed_subqs.owl MONDO:0012480 biolink:NamedThing diabetes mellitus, transient neonatal, 2 Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the ABCC8 gene. phenio_relaxed_subqs.owl MONDO:0012503 biolink:NamedThing thiopurine S-methyltransferase deficiency An acquired metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity. phenio_relaxed_subqs.owl MONDO:0012513 biolink:NamedThing maturity-onset diabetes of the young type 7 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KLF11 gene. phenio_relaxed_subqs.owl MONDO:0012522 biolink:NamedThing diabetes mellitus, transient neonatal, 3 Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the KCNJ11 gene. phenio_relaxed_subqs.owl MONDO:0012818 biolink:NamedThing maturity-onset diabetes of the young type 9 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the PAX4 gene. phenio_relaxed_subqs.owl MONDO:0012919 biolink:NamedThing type 1 diabetes mellitus 20 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the HNF1A gene. phenio_relaxed_subqs.owl MONDO:0012921 biolink:NamedThing type 1 diabetes mellitus 22 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CCR5 gene. phenio_relaxed_subqs.owl MONDO:0013240 biolink:NamedThing maturity-onset diabetes of the young type 10 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the INS gene. phenio_relaxed_subqs.owl MONDO:0013242 biolink:NamedThing maturity-onset diabetes of the young type 11 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the BLK gene. phenio_relaxed_subqs.owl MONDO:0013534 biolink:NamedThing apolipoprotein c-III deficiency phenio_relaxed_subqs.owl MONDO:0013539 biolink:NamedThing hypotonia-failure to thrive-microcephaly syndrome Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly. phenio_relaxed_subqs.owl MONDO:0013601 biolink:NamedThing gluthathione peroxidase deficiency phenio_relaxed_subqs.owl MONDO:0014352 biolink:NamedThing abdominal obesity-metabolic syndrome 3 Any metabolic syndrome in which the cause of the disease is a mutation in the DYRK1B gene. phenio_relaxed_subqs.owl MONDO:0014458 biolink:NamedThing Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene. phenio_relaxed_subqs.owl MONDO:0014488 biolink:NamedThing diabetes mellitus, noninsulin-dependent, 5 Any type 2 diabetes mellitus in which the cause of the disease is a mutation in the TBC1D4 gene. phenio_relaxed_subqs.owl MONDO:0014589 biolink:NamedThing maturity-onset diabetes of the young type 13 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KCNJ11 gene. phenio_relaxed_subqs.owl MONDO:0014674 biolink:NamedThing maturity-onset diabetes of the young type 14 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the APPL1 gene. phenio_relaxed_subqs.owl MONDO:0015286 biolink:NamedThing congenital disorder of glycosylation Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation. phenio_relaxed_subqs.owl MONDO:0015797 biolink:NamedThing UV-sensitive syndrome UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population. phenio_relaxed_subqs.owl MONDO:0016390 biolink:NamedThing familial hypoparathyroidism A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects. phenio_relaxed_subqs.owl MONDO:0016789 biolink:NamedThing pyruvate metabolism disorder An acquired metabolic disease that is has its basis in the disruption of pyruvate metabolic process. phenio_relaxed_subqs.owl MONDO:0016790 biolink:NamedThing tricarboxylic acid cycle disorder An acquired metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle. phenio_relaxed_subqs.owl MONDO:0017350 biolink:NamedThing inborn disorder of tryptophan metabolism An acquired metabolic disease that is has its basis in the disruption of tryptophan metabolic process. phenio_relaxed_subqs.owl MONDO:0017355 biolink:NamedThing inborn disorder of proline metabolism An acquired metabolic disease that is has its basis in the disruption of proline metabolic process. phenio_relaxed_subqs.owl MONDO:0017356 biolink:NamedThing inborn disorder of ornithine metabolism An acquired metabolic disease that is has its basis in the disruption of ornithine metabolic process. phenio_relaxed_subqs.owl MONDO:0017686 biolink:NamedThing inborn aminoacylase deficiency An acquired metabolic disease that is has its basis in the disruption of aminoacylase activity. phenio_relaxed_subqs.owl MONDO:0017687 biolink:NamedThing disorder of neutral amino acid transport An acquired metabolic disease that is has its basis in the disruption of neutral amino acid transport. phenio_relaxed_subqs.owl MONDO:0017739 biolink:NamedThing disorder of lysosomal-related organelles phenio_relaxed_subqs.owl MONDO:0017754 biolink:NamedThing inborn disorder of porphyrin metabolism An acquired metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process. phenio_relaxed_subqs.owl MONDO:0017757 biolink:NamedThing disorder of metabolite absorption and transport phenio_relaxed_subqs.owl MONDO:0017765 biolink:NamedThing disorder of magnesium transport An acquired metabolic disease that is has its basis in the disruption of magnesium ion transport. phenio_relaxed_subqs.owl MONDO:0017909 biolink:NamedThing inherited glutathione synthetase deficiency Glutathione synthetase deficiency is characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. phenio_relaxed_subqs.owl MONDO:0018121 biolink:NamedThing mitochondrial DNA maintenance syndrome An acquired metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance. phenio_relaxed_subqs.owl MONDO:0018346 biolink:NamedThing ferro-cerebro-cutaneous syndrome phenio_relaxed_subqs.owl MONDO:0018424 biolink:NamedThing inherited lipoic acid biosynthesis defect An acquired metabolic disease that is has its basis in the disruption of lipoate biosynthetic process. phenio_relaxed_subqs.owl MONDO:0018891 biolink:NamedThing familial tumoral calcinosis Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis. phenio_relaxed_subqs.owl MONDO:0019053 biolink:NamedThing peroxisomal disease A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia. phenio_relaxed_subqs.owl MONDO:0019145 biolink:NamedThing hereditary thrombophilia due to congenital protein C deficiency Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C. phenio_relaxed_subqs.owl MONDO:0019169 biolink:NamedThing pyruvate dehydrogenase deficiency Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency. phenio_relaxed_subqs.owl MONDO:0019189 biolink:NamedThing inborn disorder of amino acid and other organic acid metabolism phenio_relaxed_subqs.owl MONDO:0019214 biolink:NamedThing inborn carbohydrate metabolic disorder An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolic process. phenio_relaxed_subqs.owl MONDO:0019218 biolink:NamedThing inborn disorder of bile acid synthesis Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis. phenio_relaxed_subqs.owl MONDO:0019222 biolink:NamedThing inborn disorder of methionine cycle and sulfur amino acid metabolism An acquired metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process. phenio_relaxed_subqs.owl MONDO:0019224 biolink:NamedThing inborn disorder of gamma-aminobutyric acid metabolism An acquired metabolic disease that is has its basis in the disruption of gamma-aminobutyric acid metabolic process. phenio_relaxed_subqs.owl MONDO:0019225 biolink:NamedThing gluconeogenesis disorder An acquired metabolic disease that is has its basis in the disruption of gluconeogenesis. phenio_relaxed_subqs.owl MONDO:0019226 biolink:NamedThing glucose transport disorder An acquired metabolic disease that is has its basis in the disruption of glucose transport. phenio_relaxed_subqs.owl MONDO:0019227 biolink:NamedThing inborn disorder of glycerol metabolism An acquired metabolic disease that is has its basis in the disruption of glycerol metabolic process. phenio_relaxed_subqs.owl MONDO:0019228 biolink:NamedThing inborn disorder of histidine metabolism An acquired metabolic disease that is has its basis in the disruption of histidine metabolic process. phenio_relaxed_subqs.owl MONDO:0019229 biolink:NamedThing inborn disorder of ketolysis An acquired metabolic disease that is has its basis in the disruption of ketone body catabolic process. phenio_relaxed_subqs.owl MONDO:0019236 biolink:NamedThing inborn disorder of purine metabolism An acquired metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process. phenio_relaxed_subqs.owl MONDO:0019237 biolink:NamedThing inborn disorder of pyridoxine metabolism An acquired metabolic disease that is has its basis in the disruption of pyridoxine metabolic process. phenio_relaxed_subqs.owl MONDO:0019238 biolink:NamedThing inborn disorder of pyrimidine metabolism ANPM phenio_relaxed_subqs.owl MONDO:0019239 biolink:NamedThing inborn disorder of serine family metabolism An acquired metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process. phenio_relaxed_subqs.owl MONDO:0019240 biolink:NamedThing sterol biosynthesis disorder An acquired metabolic disease that is has its basis in the disruption of sterol biosynthetic process. phenio_relaxed_subqs.owl MONDO:0019242 biolink:NamedThing inborn disorder of branched-chain amino acid metabolism An acquired metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process. phenio_relaxed_subqs.owl MONDO:0019243 biolink:NamedThing inborn disorder of energy metabolism An acquired metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy. phenio_relaxed_subqs.owl MONDO:0019245 biolink:NamedThing lysosomal lipid storage disorder An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes. phenio_relaxed_subqs.owl MONDO:0019250 biolink:NamedThing inborn disorder of biogenic amine metabolism and transport phenio_relaxed_subqs.owl MONDO:0019254 biolink:NamedThing inborn disorder of purine or pyrimidine metabolism phenio_relaxed_subqs.owl MONDO:0019256 biolink:NamedThing sterol metabolism disorder An acquired metabolic disease that is has its basis in the disruption of sterol metabolic process. phenio_relaxed_subqs.owl MONDO:0019600 biolink:NamedThing xeroderma pigmentosum Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV). phenio_relaxed_subqs.owl MONDO:0020504 biolink:NamedThing genetic recurrent myoglobinuria Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. phenio_relaxed_subqs.owl MONDO:0020531 biolink:NamedThing long chain acyl-CoA dehydrogenase deficiency A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy. phenio_relaxed_subqs.owl MONDO:0020698 biolink:NamedThing inborn error of biotin metabolism phenio_relaxed_subqs.owl MONDO:0021130 biolink:NamedThing disorder of sphingolipid biosynthesis An acquired metabolic disease that is has its basis in the disruption of sphingolipid biosynthetic process. phenio_relaxed_subqs.owl MONDO:0022330 biolink:NamedThing 4-hydroxyphenylacetic aciduria phenio_relaxed_subqs.owl MONDO:0022333 biolink:NamedThing 5-nucleotidase syndrome phenio_relaxed_subqs.owl MONDO:0022468 biolink:NamedThing antigen-peptide-transporter 2 deficiency An inborn errors of metabolism disorder caused by homozygosity for mutations in the TAP2 gene. It is characterizeed by nonhealing, chronic, ulcerative granulomatous leg lesions combined with recurrent otitis media and sinopulmonary infections. phenio_relaxed_subqs.owl MONDO:0022481 biolink:NamedThing APO A-i deficiency phenio_relaxed_subqs.owl MONDO:0022655 biolink:NamedThing cardiomyopathy hypogonadism metabolic anomalies phenio_relaxed_subqs.owl MONDO:0022795 biolink:NamedThing deficiency of coenzyme q cytochrome c reductase phenio_relaxed_subqs.owl MONDO:0022949 biolink:NamedThing defective apolipoprotein b-100 phenio_relaxed_subqs.owl MONDO:0030982 biolink:NamedThing sulfide quinone oxidoreductase deficiency phenio_relaxed_subqs.owl MONDO:0031219 biolink:NamedThing mismatch repair cancer syndrome phenio_relaxed_subqs.owl MONDO:0032773 biolink:NamedThing uridine-cytidineuria phenio_relaxed_subqs.owl MONDO:0034121 biolink:NamedThing NAD(P)HX dehydratase deficiency phenio_relaxed_subqs.owl MONDO:0037858 biolink:NamedThing inherited fatty acid metabolism disorder A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources. phenio_relaxed_subqs.owl MONDO:0037938 biolink:NamedThing inborn disorder of aspartate family metabolism An acquired metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process. phenio_relaxed_subqs.owl MONDO:0040566 biolink:NamedThing inherited glutathione metabolism disease An acquired metabolic disease that is has its basis in the disruption of glutathione metabolic process. phenio_relaxed_subqs.owl MONDO:0043875 biolink:NamedThing tumor lysis syndrome A condition of metabolic abnormalities that result from a spontaneous or therapy-related cytolysis of tumor cells. Tumor lysis syndrome typically occurs in aggressive, rapidly proliferating lymphoproliferative disorders. Burkitt lymphoma and T cell acute lymphoblastic leukemia are commonly associated with this syndrome. Metabolic abnormalities include hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia and may result in renal failure, multiple organ failure, and death. phenio_relaxed_subqs.owl MONDO:0045046 biolink:NamedThing inherited thyroid metabolism disease An acquired metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process. phenio_relaxed_subqs.owl MONDO:0100164 biolink:NamedThing permanent neonatal diabetes mellitus Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment. phenio_relaxed_subqs.owl MONDO:0100188 biolink:NamedThing combined ApoA-I and ApoC-III deficiency A hypoalphalipoproteinemia that is has its basis in the disruption of ApoA-I and ApoC-III. phenio_relaxed_subqs.owl MONDO:0100189 biolink:NamedThing apolipoprotein A-I deficiency A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD). phenio_relaxed_subqs.owl MONDO:0100365 biolink:NamedThing mucopolysaccharidosis or mucopolysaccharidosis-like disorder Any disease that presents as a mucopolysaccharidosis or mucopolysaccharidosis-like disorder. phenio_relaxed_subqs.owl NCIT:C34816 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_86095007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:68367 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0025530 biolink:NamedThing phenio_relaxed_subqs.owl DOID:884 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009745 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_121.5 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128390 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_37832003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0025534 biolink:NamedThing phenio_relaxed_subqs.owl DOID:896 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008664 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000995 biolink:NamedThing familial periodic paralysis A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally. phenio_relaxed_subqs.owl MONDO:0008713 biolink:NamedThing acrodermatitis enteropathica Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure. phenio_relaxed_subqs.owl MONDO:0008846 biolink:NamedThing atransferrinemia Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated. phenio_relaxed_subqs.owl MONDO:0018100 biolink:NamedThing familial primary hypomagnesemia A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration. phenio_relaxed_subqs.owl MONDO:0019992 biolink:NamedThing pseudohypoparathyroidism Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). phenio_relaxed_subqs.owl MONDO:0020480 biolink:NamedThing sulfite oxidase deficiency due to molybdenum cofactor deficiency phenio_relaxed_subqs.owl UMLS:C0026103 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019191 biolink:NamedThing IgG4-related dacryoadenitis and sialadenitis IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis. phenio_relaxed_subqs.owl DOID:12900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007043 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008882 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34819 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_7826003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79078 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0026113 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006580 biolink:NamedThing miliaria A small (one mm or less) vesicular, papular or pustular monomorphous rash, which is associated with heat, fever or occlusion of sweat glands. phenio_relaxed_subqs.owl DOID:1382 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008883 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006581 biolink:NamedThing miliaria rubra Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps). phenio_relaxed_subqs.owl MONDO:0020814 biolink:NamedThing miliaria alba phenio_relaxed_subqs.owl MONDO:0020816 biolink:NamedThing miliaria papulosa phenio_relaxed_subqs.owl MONDO:0020817 biolink:NamedThing miliaria vesiculosa phenio_relaxed_subqs.owl MONDO:0020823 biolink:NamedThing infantile miliaria phenio_relaxed_subqs.owl MONDO:0024227 biolink:NamedThing miliaria pustulosa A miliaria that is characterized by pustules resulting from inflammation and bacterial infection. phenio_relaxed_subqs.owl MONDO:0024228 biolink:NamedThing miliaria profunda A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash. phenio_relaxed_subqs.owl MONDO:0024229 biolink:NamedThing miliaria crystallina A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located in the stratum corneum. phenio_relaxed_subqs.owl NCIT:C34820 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_63951004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000734 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0026143 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005850 biolink:NamedThing milker's nodule Virus diseases caused by the poxviridae. phenio_relaxed_subqs.owl DOID:8729 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_051.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_051.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011213 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_27240009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007370 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0026229 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7894 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008924 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004525 biolink:NamedThing scabies A contagious skin infection that is caused by the burrowing parasitic mite, Sarcoptes scabiei, and is characterized by intense itching and small, raised red spots in the area of the mite burrows. phenio_relaxed_subqs.owl MONDO:0005998 biolink:NamedThing trombiculiasis Infestation with mites of the genus Trombiculidae, whose larvae carry the rickettsial agent of scrub typhus. phenio_relaxed_subqs.owl OBO:SCTID_240885009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0026272 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005854 biolink:NamedThing mixed connective tissue disease Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms. phenio_relaxed_subqs.owl DOID:3492 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007051 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008947 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84892 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_398049005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007374 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:809 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0026393 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005855 biolink:NamedThing molluscum contagiosum A common, benign, usually self-limited viral infection of the skin and occasionally the conjunctivae by a poxvirus (molluscum contagiosum virus). (Dorland, 27th ed) phenio_relaxed_subqs.owl DOID:8867 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B08.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_078.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008976 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_40070004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007375 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0026414 biolink:NamedThing phenio_relaxed_subqs.owl DOID:931 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008989 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001372 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0026471 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002274 biolink:NamedThing monoclonal paraproteinemia disease A disease characterized by the presence of excessive amounts of paraprotein or single monoclonal gammaglobulin in the blood. It is usually due to an underlying immunoproliferative disorder or hematologic neoplasms, especially multiple myeloma. phenio_relaxed_subqs.owl DOID:2346 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_273.1 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35878 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_267440005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0026603 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008015 biolink:NamedThing motion sickness A sensation of discomfort that results from a discordant relationship between visualized movement and any movement sensed by the vestibular system, which is characterized by dizziness, nausea, and vomiting. phenio_relaxed_subqs.owl DOID:2951 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_T75.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009041 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003147 biolink:NamedThing space motion sickness Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary) phenio_relaxed_subqs.owl OMIM:158280 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0006928 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0026654 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016820 biolink:NamedThing Moyamoya disease Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes. phenio_relaxed_subqs.owl DOID:13099 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007064 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009072 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009649 biolink:NamedThing moyamoya disease 1 phenio_relaxed_subqs.owl MONDO:0010448 biolink:NamedThing moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism. phenio_relaxed_subqs.owl MONDO:0011784 biolink:NamedThing Moyamoya disease 2 Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene. phenio_relaxed_subqs.owl MONDO:0012122 biolink:NamedThing moyamoya disease 3 phenio_relaxed_subqs.owl MONDO:0013542 biolink:NamedThing Moyamoya disease 5 Any Moyamoya disease in which the cause of the disease is a mutation in the ACTA2 gene. phenio_relaxed_subqs.owl MONDO:0014331 biolink:NamedThing Moyamoya disease with early-onset achalasia Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis. phenio_relaxed_subqs.owl NCIT:C84895 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_252350 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_89142007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2573 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0026691 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13378 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006816 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_446.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009080 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34825 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611775 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_75053002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0004246 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2331 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0026697 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019248 biolink:NamedThing mucolipidosis A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations. phenio_relaxed_subqs.owl DOID:0080488 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009081 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009652 biolink:NamedThing mucolipidosis type III gamma Mucolipidosis III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency. phenio_relaxed_subqs.owl MONDO:0009653 biolink:NamedThing mucolipidosis type IV A lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus. phenio_relaxed_subqs.owl MONDO:0018931 biolink:NamedThing mucolipidosis type III Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients. phenio_relaxed_subqs.owl NCIT:C61267 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_70528007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79212 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0026703 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019249 biolink:NamedThing mucopolysaccharidosis A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies. phenio_relaxed_subqs.owl DOID:12798 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007065 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_277.5 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009083 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001586 biolink:NamedThing mucopolysaccharidosis type 1 The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome). phenio_relaxed_subqs.owl MONDO:0009659 biolink:NamedThing mucopolysaccharidosis type 4A A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits. phenio_relaxed_subqs.owl MONDO:0009660 biolink:NamedThing mucopolysaccharidosis type 4B A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature. phenio_relaxed_subqs.owl MONDO:0009661 biolink:NamedThing mucopolysaccharidosis type 6 Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate. phenio_relaxed_subqs.owl MONDO:0009662 biolink:NamedThing mucopolysaccharidosis type 7 Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. phenio_relaxed_subqs.owl MONDO:0010674 biolink:NamedThing mucopolysaccharidosis type 2 A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement. phenio_relaxed_subqs.owl MONDO:0011093 biolink:NamedThing mucopolysaccharidosis type 9 An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency. phenio_relaxed_subqs.owl MONDO:0018937 biolink:NamedThing mucopolysaccharidosis type 3 Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration. phenio_relaxed_subqs.owl MONDO:0018938 biolink:NamedThing mucopolysaccharidosis type 4 Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterised by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B. phenio_relaxed_subqs.owl MONDO:0030524 biolink:NamedThing mucopolysaccharidosis, type 10 phenio_relaxed_subqs.owl NCIT:C61259 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_607014 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_11380006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79213 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0026705 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12799 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006675 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E76.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016532 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016315 biolink:NamedThing mucopolysaccharidosis type 2, severe form Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade. phenio_relaxed_subqs.owl MONDO:0016316 biolink:NamedThing mucopolysaccharidosis type 2, attenuated form Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline. phenio_relaxed_subqs.owl NCIT:C61260 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:309900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_70737009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:580 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79388 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0026706 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205330 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12801 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003807 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009655 biolink:NamedThing Sanfilippo syndrome type A A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures. phenio_relaxed_subqs.owl MONDO:0009656 biolink:NamedThing Sanfilippo syndrome type B A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays. phenio_relaxed_subqs.owl MONDO:0009657 biolink:NamedThing Sanfilippo syndrome type C A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays. phenio_relaxed_subqs.owl MONDO:0009658 biolink:NamedThing Sanfilippo syndrome type D A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays. phenio_relaxed_subqs.owl NCIT:C61262 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_88393000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:581 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0026707 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12804 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012562 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009647 biolink:NamedThing Morquio syndrome C phenio_relaxed_subqs.owl NCIT:C61263 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_378007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:582 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0026708 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011760 biolink:NamedThing Scheie syndrome Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. phenio_relaxed_subqs.owl DOID:0060222 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012561 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C61265 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607016 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93474 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0026709 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007095 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009087 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017171 biolink:NamedThing mucopolysaccharidosis type 6, rapidly progressing phenio_relaxed_subqs.owl MONDO:0017172 biolink:NamedThing mucopolysaccharidosis type 6, slowly progressing phenio_relaxed_subqs.owl NCIT:C61264 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:253200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_69463008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:583 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0026755 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015454 biolink:NamedThing multiple carboxylase deficiency Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. phenio_relaxed_subqs.owl DOID:857 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003824 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_D81.819 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009100 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009666 biolink:NamedThing holocarboxylase synthetase deficiency A life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma. phenio_relaxed_subqs.owl ORPHA:148 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0026780 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000989 biolink:NamedThing mumps infectious disease A contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease. phenio_relaxed_subqs.owl DOID:10264 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007116 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B26 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009107 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D019351 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0022843 biolink:NamedThing congenital mumps phenio_relaxed_subqs.owl NCIT:C29888 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_36989005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007383 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0026851 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009137 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0025139 biolink:NamedThing white muscle disease A myodegeneration most frequent in calves and lambs whose dams have been fed during gestation or longer on feeds, especially legumes (fabaceae), grown in certain areas where selenium is either deficient or unavailable in the soil. It has been recorded in many countries. It has been produced experimentally in several species of animals on low-selenium intake. A similar myopathy occurs naturally in goats, deer, foals, and dogs but proof of the etiology is lacking. (Merck Veterinary Manual, 5th ed) phenio_relaxed_subqs.owl UMLS:C0026916 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005866 biolink:NamedThing mycobacterium avium complex disease An infection that is caused by Mycobacterium avium. phenio_relaxed_subqs.owl DOID:2755 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009236 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015270 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C36197 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_373436002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007386 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0026918 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009164 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000327 biolink:NamedThing Buruli ulcer disease A cutaneous infection caused by Mycobacterium ulcerans. It presents with painless nodular swelling of the skin, leading to the formation of necrotizing ulcers. phenio_relaxed_subqs.owl MONDO:0010386 biolink:NamedThing immunodeficiency 33 Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene. phenio_relaxed_subqs.owl MONDO:0017832 biolink:NamedThing mycobacterium xenopi infection A disease caused by infection with Mycobacterium xenopi. phenio_relaxed_subqs.owl MONDO:0017900 biolink:NamedThing autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM). phenio_relaxed_subqs.owl MONDO:0018076 biolink:NamedThing tuberculosis A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use. phenio_relaxed_subqs.owl MONDO:0018469 biolink:NamedThing pulmonary non-tuberculous mycobacterial infection phenio_relaxed_subqs.owl MONDO:0043314 biolink:NamedThing aquarium granuloma A skin condition caused by Mycobacterium marinum, characterized by a skin lesion that presents roughly three weeks after exposure. phenio_relaxed_subqs.owl NCIT:C26831 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_88415009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0027030 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11080 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_134.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009198 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005954 biolink:NamedThing screw worm infectious disease Infection with larvae of the blow fly Cochliomyia hominivorax (Callitroga americanum), a common cause of disease in livestock in the southern and southwestern U.S.A. phenio_relaxed_subqs.owl MONDO:0015623 biolink:NamedThing cavitary myiasis Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis. phenio_relaxed_subqs.owl MONDO:0020568 biolink:NamedThing cutaneous myiasis phenio_relaxed_subqs.owl NCIT:C128400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_60412004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007389 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:75110 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0027031 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B87.0 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015622 biolink:NamedThing wound myiasis phenio_relaxed_subqs.owl MONDO:0018857 biolink:NamedThing creeping myiasis phenio_relaxed_subqs.owl MONDO:0018941 biolink:NamedThing furuncular myiasis Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis). phenio_relaxed_subqs.owl OBO:SCTID_240877000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99983 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0027034 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050268 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_48216006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0027145 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009718 biolink:NamedThing myxedema A condition characterized by severe hypothyroidism that is caused by autoimmune thyroid gland disorders, surgical reduction of thyroid tissue, radiation exposure, and viral infections. Signs and symptoms include generalized fatigue, lethargy, increased body weight, pale, edematous and thickened skin, low blood pressure, constipation and cold intolerance. phenio_relaxed_subqs.owl DOID:11634 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009230 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34834 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:255900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_43153006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001055 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0027149 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006086 biolink:NamedThing angiomyxoma A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells, and vascular proliferation in a myxoid stroma. phenio_relaxed_subqs.owl OBO:MESH_D009232 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3254 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_404083008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000087 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0027152 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009234 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007327 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0027341 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008061 biolink:NamedThing nail-patella syndrome A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. phenio_relaxed_subqs.owl DOID:9467 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007160 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009261 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C75120 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:161200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_22199006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2614 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0027345 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0025369 biolink:NamedThing Nairobi sheep disease An arbovirus infection of sheep and goats transmitted by ticks. It is characterized by high fever and hemorrhagic gastroenteritis. phenio_relaxed_subqs.owl OBO:MESH_D009265 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_24069003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0027430 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006314 biolink:NamedThing nasal cavity polyp A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection. phenio_relaxed_subqs.owl OBO:ICD9_471.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_471.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009298 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3256 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_52756005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000391 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0027528 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2790 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B76.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009332 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34838 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_36667009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007390 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0027577 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016035 biolink:NamedThing Nelson syndrome A syndrome that develops following bilateral adrenalectomy for Cushing syndrome. The signs and symptoms result from the presence of an adenocorticotropin-secreting pituitary gland adenoma, and include enlargement of the sella turcica and pressure on the adjacent structures, and skin hyperpigmentation. phenio_relaxed_subqs.owl DOID:4968 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007170 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C531754 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009347 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84917 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_43019009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:199244 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0027583 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009349 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005745 biolink:NamedThing Enoplea infectious disease Infections with nematodes of the order enoplida. phenio_relaxed_subqs.owl MONDO:0005943 biolink:NamedThing Rhabditida infectious disease Infections with nematodes of the order rhabditida. phenio_relaxed_subqs.owl MONDO:0005973 biolink:NamedThing Strongylida infectious disease Infections with nematodes of the order strongylida. phenio_relaxed_subqs.owl OBO:SCTID_84706005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007391 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0027609 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005566 biolink:NamedThing neonatal abstinence syndrome A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors. phenio_relaxed_subqs.owl DOID:9828 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_779.5 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009357 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C87101 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_414819007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005799 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0027656 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009372 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002360 biolink:NamedThing chondroma A benign well circumscribed neoplasm of hyaline cartilage arising from bone or soft tissue. It is characterized by the presence of chondrocytes. phenio_relaxed_subqs.owl MONDO:0002522 biolink:NamedThing tenosynovial giant cell tumor A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse. phenio_relaxed_subqs.owl MONDO:0003301 biolink:NamedThing dartoic leiomyoma A cutaneous leiomyoma arising from the dartos muscle of the scrotum or labia majora. phenio_relaxed_subqs.owl MONDO:0004315 biolink:NamedThing cholangiolocellular carcinoma An intrahepatic cholangiocarcinoma that arises from the canals of Hering. phenio_relaxed_subqs.owl MONDO:0005953 biolink:NamedThing scirrhous adenocarcinoma An infiltrating adenocarcinoma characterized by the presence of desmoplastic stromal reaction. phenio_relaxed_subqs.owl MONDO:0006209 biolink:NamedThing fibroblastic neoplasm A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts. phenio_relaxed_subqs.owl MONDO:0019060 biolink:NamedThing bone neoplasm A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage. phenio_relaxed_subqs.owl MONDO:0019101 biolink:NamedThing retinal capillary malformation Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles. phenio_relaxed_subqs.owl MONDO:0021354 biolink:NamedThing tumor of adipose tissue A neoplasm (disease) that involves the adipose tissue. phenio_relaxed_subqs.owl OBO:SCTID_126598008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0027662 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_258.0 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012552 biolink:NamedThing multiple endocrine neoplasia type 4 Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors. phenio_relaxed_subqs.owl MONDO:0019003 biolink:NamedThing multiple endocrine neoplasia type 2 Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia, a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC). phenio_relaxed_subqs.owl NCIT:C6432 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_131100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_46724008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:276161 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0027672 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199448 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN882908 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009386 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000141 biolink:NamedThing mosaic variegated aneuploidy syndrome Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition. phenio_relaxed_subqs.owl MONDO:0003582 biolink:NamedThing hereditary breast ovarian cancer syndrome An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer. phenio_relaxed_subqs.owl MONDO:0005508 biolink:NamedThing hereditary multiple osteochondromas A bone neoplasm characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones. phenio_relaxed_subqs.owl MONDO:0007203 biolink:NamedThing blue rubber bleb nevus Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia. phenio_relaxed_subqs.owl MONDO:0007566 biolink:NamedThing multiple self-healing squamous epithelioma Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars. phenio_relaxed_subqs.owl MONDO:0007681 biolink:NamedThing goiter, multinodular 1, with or without Sertoli-Leydig cell tumors Any multinodular goiter in which the cause of the disease is a mutation in the DICER1 gene. phenio_relaxed_subqs.owl MONDO:0007967 biolink:NamedThing melanoma and neural system tumor syndrome Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma). phenio_relaxed_subqs.owl MONDO:0010002 biolink:NamedThing Rothmund-Thomson syndrome Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers. phenio_relaxed_subqs.owl MONDO:0010159 biolink:NamedThing mismatch repair cancer syndrome 1 A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1. phenio_relaxed_subqs.owl MONDO:0010518 biolink:NamedThing Wiskott-Aldrich syndrome Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies. phenio_relaxed_subqs.owl MONDO:0010686 biolink:NamedThing N syndrome N syndrome is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity. phenio_relaxed_subqs.owl MONDO:0011071 biolink:NamedThing hereditary thrombocytopenia and hematologic cancer predisposition syndrome The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes. phenio_relaxed_subqs.owl MONDO:0011740 biolink:NamedThing Carney-Stratakis syndrome Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. phenio_relaxed_subqs.owl MONDO:0012548 biolink:NamedThing Kostmann syndrome Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients. phenio_relaxed_subqs.owl MONDO:0013692 biolink:NamedThing BAP1-related tumor predisposition syndrome BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape. phenio_relaxed_subqs.owl MONDO:0013759 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 8 An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer. phenio_relaxed_subqs.owl MONDO:0013806 biolink:NamedThing familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome phenio_relaxed_subqs.owl MONDO:0014268 biolink:NamedThing combined immunodeficiency due to OX40 deficiency Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma. phenio_relaxed_subqs.owl MONDO:0014527 biolink:NamedThing progeroid features-hepatocellular carcinoma predisposition syndrome phenio_relaxed_subqs.owl MONDO:0014809 biolink:NamedThing DDX41-related hematologic malignancy predisposition syndrome Any hereditary neoplastic syndrome in which the cause of the disease is a mutation in the DDX41 gene. phenio_relaxed_subqs.owl MONDO:0015027 biolink:NamedThing familial isolated hyperparathyroidism A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors. phenio_relaxed_subqs.owl MONDO:0016473 biolink:NamedThing familial rhabdoid tumor A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma. phenio_relaxed_subqs.owl MONDO:0017891 biolink:NamedThing inherited renal cancer-predisposing syndrome phenio_relaxed_subqs.owl MONDO:0018160 biolink:NamedThing hereditary retinoblastoma An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. phenio_relaxed_subqs.owl MONDO:0018453 biolink:NamedThing familial atypical multiple mole melanoma syndrome phenio_relaxed_subqs.owl MONDO:0018538 biolink:NamedThing inherited digestive cancer-predisposing syndrome phenio_relaxed_subqs.owl MONDO:0018875 biolink:NamedThing Li-Fraumeni syndrome Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC). phenio_relaxed_subqs.owl MONDO:0018893 biolink:NamedThing Cobb syndrome Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution. phenio_relaxed_subqs.owl MONDO:0021061 biolink:NamedThing neurofibromatosis A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist. phenio_relaxed_subqs.owl MONDO:0035645 biolink:NamedThing inherited gynecological cancer-predisposing syndrome phenio_relaxed_subqs.owl NCIT:C3266 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_699346009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:140162 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0027709 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001567 biolink:NamedThing nephrocalcinosis Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to thecondition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms may be associated with chronic kidney failure. It may be caused by use of certain medications or supplements, infection, or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, Alport syndrome, Bartter syndrome,and a variety of other conditions. Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. Treatment differs depending on the cause of nephrocalcinosis and often aims to prevent more calcium from being deposited in the kidneys. phenio_relaxed_subqs.owl DOID:12679 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007177 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009397 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009550 biolink:NamedThing renal hypomagnesemia 3 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure. phenio_relaxed_subqs.owl NCIT:C84918 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_48638002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0027726 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005377 biolink:NamedThing nephrotic syndrome A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction. phenio_relaxed_subqs.owl DOID:1184 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_581.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009404 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009732 biolink:NamedThing congenital nephrotic syndrome, Finnish type Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life. phenio_relaxed_subqs.owl MONDO:0009733 biolink:NamedThing nephrotic syndrome, type 4 Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis. phenio_relaxed_subqs.owl MONDO:0010974 biolink:NamedThing nephrotic syndrome, type 2 Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene. phenio_relaxed_subqs.owl MONDO:0012546 biolink:NamedThing nephrotic syndrome, type 3 Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene. phenio_relaxed_subqs.owl MONDO:0013619 biolink:NamedThing nephrotic syndrome, type 6 Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene. phenio_relaxed_subqs.owl MONDO:0013621 biolink:NamedThing LAMB2-related infantile-onset nephrotic syndrome LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal. phenio_relaxed_subqs.owl MONDO:0014099 biolink:NamedThing nephrotic syndrome, type 8 Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene. phenio_relaxed_subqs.owl MONDO:0014257 biolink:NamedThing nephrotic syndrome, type 9 Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene. phenio_relaxed_subqs.owl MONDO:0014373 biolink:NamedThing nephrotic syndrome, type 10 Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene. phenio_relaxed_subqs.owl MONDO:0014752 biolink:NamedThing nephrotic syndrome, type 11 Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene. phenio_relaxed_subqs.owl MONDO:0014817 biolink:NamedThing nephrotic syndrome, type 12 Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene. phenio_relaxed_subqs.owl MONDO:0014818 biolink:NamedThing nephrotic syndrome, type 13 Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene. phenio_relaxed_subqs.owl MONDO:0018170 biolink:NamedThing idiopathic nephrotic syndrome Nephrotic syndrome for which no cause has been identified. phenio_relaxed_subqs.owl MONDO:0031008 biolink:NamedThing nephrotic syndrome, type 24 phenio_relaxed_subqs.owl MONDO:0033203 biolink:NamedThing nephrotic syndrome 14 phenio_relaxed_subqs.owl MONDO:0033262 biolink:NamedThing nephrotic syndrome 15 phenio_relaxed_subqs.owl MONDO:0033280 biolink:NamedThing nephrotic syndrome 16 phenio_relaxed_subqs.owl MONDO:0043156 biolink:NamedThing nephrotic syndrome ocular anomalies phenio_relaxed_subqs.owl MONDO:0044765 biolink:NamedThing steroid-resistant nephrotic syndrome Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids. phenio_relaxed_subqs.owl NCIT:C34845 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_52254009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0004255 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0027831 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018975 biolink:NamedThing neurofibromatosis type 1 Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas. phenio_relaxed_subqs.owl DOID:0111253 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007866 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_237.71 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538607 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009456 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008078 biolink:NamedThing neurofibromatosis, familial spinal phenio_relaxed_subqs.owl MONDO:0013357 biolink:NamedThing chromosome 17q11.2 deletion syndrome, 1.4Mb A rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. phenio_relaxed_subqs.owl MONDO:0018208 biolink:NamedThing neurofibromatosis type 1 due to NF1 mutation or intragenic deletion phenio_relaxed_subqs.owl NCIT:C3273 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:162200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_92824003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:636 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0027832 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007039 biolink:NamedThing neurofibromatosis type 2 A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas. phenio_relaxed_subqs.owl DOID:0111252 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007193 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_Q85.02 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_237.72 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3274 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:101000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_92503002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:637 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0027849 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019790 biolink:NamedThing neuroleptic malignant syndrome Neuroleptic malignant syndrome (NMS) is an idiosyncratic condition associated with administration of antipsychotic and other central dopaminergic blockers, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness. phenio_relaxed_subqs.owl DOID:14464 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007195 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_G21.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_333.92 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009459 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C94829 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_15244003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001379 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:94093 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0027858 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002173 biolink:NamedThing neuroma A tumor that grows from a nerve or is composed of nerve cells and nerve fibers. phenio_relaxed_subqs.owl DOID:2001 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009463 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003307 biolink:NamedThing multiple mucosal neuroma phenio_relaxed_subqs.owl NCIT:C3275 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_443892003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0027877 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016295 biolink:NamedThing neuronal ceroid lipofuscinosis A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina. phenio_relaxed_subqs.owl DOID:14503 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010739 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E75.4 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008767 biolink:NamedThing neuronal ceroid lipofuscinosis 3 A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. phenio_relaxed_subqs.owl MONDO:0008769 biolink:NamedThing neuronal ceroid lipofuscinosis 2 A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. phenio_relaxed_subqs.owl MONDO:0009744 biolink:NamedThing neuronal ceroid lipofuscinosis 1 A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. phenio_relaxed_subqs.owl MONDO:0009745 biolink:NamedThing neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. phenio_relaxed_subqs.owl MONDO:0010830 biolink:NamedThing neuronal ceroid lipofuscinosis 8 Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene. phenio_relaxed_subqs.owl MONDO:0012588 biolink:NamedThing neuronal ceroid lipofuscinosis 7 Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. phenio_relaxed_subqs.owl MONDO:0012721 biolink:NamedThing progressive myoclonic epilepsy type 3 Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene. phenio_relaxed_subqs.owl MONDO:0015674 biolink:NamedThing late infantile neuronal ceroid lipofuscinosis A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration. phenio_relaxed_subqs.owl NCIT:C61257 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_256730 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_42012007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:216 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0027889 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015364 biolink:NamedThing hereditary sensory and autonomic neuropathy An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl DOID:0050548 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012688 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_356.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009477 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008809 biolink:NamedThing polyneuropathy-hand defect syndrome Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986. phenio_relaxed_subqs.owl MONDO:0009751 biolink:NamedThing neuropathy, hereditary sensory, atypical A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities. phenio_relaxed_subqs.owl MONDO:0010378 biolink:NamedThing X-linked hereditary sensory and autonomic neuropathy with hearing loss This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss. phenio_relaxed_subqs.owl MONDO:0010688 biolink:NamedThing hereditary sensory neuropathy X-linked A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life. phenio_relaxed_subqs.owl MONDO:0013839 biolink:NamedThing hereditary sensory and autonomic neuropathy type 6 Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene. phenio_relaxed_subqs.owl MONDO:0015365 biolink:NamedThing autosomal dominant hereditary sensory and autonomic neuropathy Autosomal dominant form of hereditary sensory and autonomic neuropathy. phenio_relaxed_subqs.owl MONDO:0015366 biolink:NamedThing autosomal recessive hereditary sensory and autonomic neuropathy Autosomal recessive form of hereditary sensory and autonomic neuropathy. phenio_relaxed_subqs.owl MONDO:0016319 biolink:NamedThing congenital insensitivity to pain with hyperhidrosis phenio_relaxed_subqs.owl MONDO:0018431 biolink:NamedThing cold-induced sweating syndrome - hyperthermia spectrum phenio_relaxed_subqs.owl MONDO:0019941 biolink:NamedThing hereditary sensory and autonomic neuropathy type 2 Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia. phenio_relaxed_subqs.owl NCIT:C125386 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_162400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_11442006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:140471 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0027927 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004944 biolink:NamedThing neurosyphilis Infection of the brain or spinal cord by Treponema pallidum. It occurs many years following the original infection which remained untreated. Signs and symptoms include abnormal gait, blindness, depression, paralysis, seizures and dementia. phenio_relaxed_subqs.owl DOID:9988 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008729 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A52.3 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000335 biolink:NamedThing parenchymatous neurosyphilis A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has symptom irritability, has symptom difficulty concentrating, has symptom deterioration of memory, has symptom defective judgment, has symptom headaches, has symptom insomnia, has symptom fatigue, and has symptom lethargy. phenio_relaxed_subqs.owl MONDO:0000336 biolink:NamedThing meningovascular neurosyphilis A tertiary neurosyphilis that results in inflammation located in arteries of the brain or located in arteries of spinal cord. The infection has symptom headache, has symptom neck stiffness, has symptom dizziness, has symptom behavioral abnormalities, has symptom poor concentration, has symptom memory loss, has symptom lassitude, has symptom insomnia, has symptom blurred vision, has symptom weakness and wasting of shoulder-girdle and arm muscles, has symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has symptom paralysis of the legs due to thrombosis of spinal arteries. phenio_relaxed_subqs.owl MONDO:0000927 biolink:NamedThing asymptomatic neurosyphilis phenio_relaxed_subqs.owl MONDO:0005977 biolink:NamedThing tabes dorsalis A form of neurosyphilis characterized by slowly progressive degeneration of the spinal cord. Signs and symptoms include pain, ataxia, loss of coordination, personality changes, blindness, urinary incontinence, dementia, and degeneration of the joints. phenio_relaxed_subqs.owl NCIT:C84935 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_26039008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0027983 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005875 biolink:NamedThing Newcastle disease A condition caused by infection by the Newcastle disease virus, which may be characterized by conjunctivitis, respiratory illness, and diarrhea. phenio_relaxed_subqs.owl DOID:2929 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009521 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34849 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007395 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0028064 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001982 biolink:NamedThing Niemann-Pick disease A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell. phenio_relaxed_subqs.owl DOID:14504 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013334 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009542 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009756 biolink:NamedThing Niemann-Pick disease type A Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders. phenio_relaxed_subqs.owl MONDO:0011871 biolink:NamedThing Niemann-Pick disease type B Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea phenio_relaxed_subqs.owl MONDO:0018982 biolink:NamedThing Niemann-Pick disease type C NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment. phenio_relaxed_subqs.owl MONDO:0020384 biolink:NamedThing Niemann-Pick disease type E Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease. phenio_relaxed_subqs.owl NCIT:C61269 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_58459009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001380 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0028271 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9672 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004001 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_528.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009625 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34852 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_18116006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001063 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2700 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0028326 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018997 biolink:NamedThing Noonan syndrome Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects. phenio_relaxed_subqs.owl DOID:3490 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010955 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009634 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008104 biolink:NamedThing Noonan syndrome 1 Noonan syndrome caused by mutations in the PTPN11 gene. phenio_relaxed_subqs.owl MONDO:0011531 biolink:NamedThing Noonan syndrome 2 phenio_relaxed_subqs.owl MONDO:0012371 biolink:NamedThing Noonan syndrome 3 Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene. phenio_relaxed_subqs.owl MONDO:0012547 biolink:NamedThing Noonan syndrome 4 Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene. phenio_relaxed_subqs.owl MONDO:0012690 biolink:NamedThing Noonan syndrome 5 Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene. phenio_relaxed_subqs.owl MONDO:0013186 biolink:NamedThing Noonan syndrome 6 Any Noonan syndrome in which the cause of the disease is a mutation in the NRAS gene. phenio_relaxed_subqs.owl MONDO:0013379 biolink:NamedThing Noonan syndrome 7 Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene. phenio_relaxed_subqs.owl MONDO:0014143 biolink:NamedThing Noonan syndrome 8 Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene. phenio_relaxed_subqs.owl MONDO:0014691 biolink:NamedThing Noonan syndrome 9 Any Noonan syndrome in which the cause of the disease is a mutation in the SOS2 gene. phenio_relaxed_subqs.owl MONDO:0014693 biolink:NamedThing Noonan syndrome 10 Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene. phenio_relaxed_subqs.owl MONDO:0030679 biolink:NamedThing Noonan syndrome 14 phenio_relaxed_subqs.owl MONDO:0032786 biolink:NamedThing Noonan syndrome 11 phenio_relaxed_subqs.owl MONDO:0032839 biolink:NamedThing noonan syndrome 12 phenio_relaxed_subqs.owl MONDO:0033669 biolink:NamedThing Noonan syndrome 13 phenio_relaxed_subqs.owl NCIT:C34854 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_163950 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_205824006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:648 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0028425 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001951 biolink:NamedThing Norwegian scabies A rare, severe form of scabies that is associated with immunosuppression. It is characterized by an immense number of mites and hyperkeratotic crusted lesions, and is usually accompanied by lymphadenopathy and eosinophilia. phenio_relaxed_subqs.owl DOID:14374 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012151 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34855 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_128870005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0028432 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2825 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009668 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006828 biolink:NamedThing nasal cavity and paranasal sinus lethal midline granuloma An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses, and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline of the face in patients with nasal type extranodal NK/T-cell lymphoma. phenio_relaxed_subqs.owl MONDO:0010921 biolink:NamedThing nasal dermoid cyst A dermoid cyst that involves the nose. phenio_relaxed_subqs.owl OBO:SCTID_89488007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0028754 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9970 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_278.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_278.00 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005139 biolink:NamedThing morbid obesity An excess of body weight, normally defined as an individual with a body mass index greater than 35 or a body weight greater than one hundred percent of ideal body weight. phenio_relaxed_subqs.owl NCIT:C3283 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_414916001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0001073 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:521399 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0028756 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11981 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009767 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_83911000119104 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0001074 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0028817 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14223 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007231 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009794 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0023094 biolink:NamedThing exogenous ochronosis Exogenous ochronosis refers tothe bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations when it is due toexposure to various substances.It has been reported most commonly with topical application of hydroquinones to the skin. The discolorationmay becaused byan effect ontyrosinase(an enzyme located in melanocytes, which are skincells that produce pigment), or by inhibiting homogentisic acid oxidase, resulting in the accumulation and deposition of homogentisic acid (HGA) in cartilage. The discoloration is often permanent, but when exogenous ochronosis is caused by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful. Exogenous ochronosis is different from hereditary ochronosis, which is an inherited condition that occurs with alkaptonuria. phenio_relaxed_subqs.owl NCIT:C84938 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_410042009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0028860 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010645 biolink:NamedThing oculocerebrorenal syndrome Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure. phenio_relaxed_subqs.owl DOID:1056 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003295 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009800 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84940 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:309000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_79385002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:534 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0028887 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005880 biolink:NamedThing oesophagostomiasis Infection of the intestinal tract with worms of the genus oesophagostomum. This condition occurs mainly in animals other than humans. phenio_relaxed_subqs.owl DOID:3983 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009814 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_22500005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0029001 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11678 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007252 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B73 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009855 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34861 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_38539003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007402 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2737 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0029002 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015827 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34862 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_240842000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007398 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0029051 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10974 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009869 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002226 biolink:NamedThing tuberculous oophoritis An urogenital tuberculosis involving a pathogenic inflammatory response in the ovary. phenio_relaxed_subqs.owl MONDO:0021950 biolink:NamedThing autoimmune oophoritis Autoimmune oophoritis is a rare cause of primary ovarian insufficiency (POI). It happens when the body's immune system mistakenly attacks the ovaries causing inflammation, atrophy and fibrosis. These changes stop the ovaries from working normally. The main symptoms of autoimmune oophorotis are irregular or absent menstrual period (amenorrhea) and symptoms related to ovarian cysts such as abdominal cramping, bloating, nausea and vomiting. Autoimmune oophoritis may occur as part of autoimmune polyglandular syndrome type I and type II but has also been associated with lupus, pernicious anemia, myasthenia gravis and other autoimmune conditions. The underlying cause of autoimmune oophoritis is unknown. Diagnosis involves a special blood test which looks for anti-steroid or anti-ovarian antibodies, a pelvic ultrasound to look for enlarged cystic ovaries and tests to rule out other possible causes of POI. Management of autoimmune oophoritis involves emotional support, possible estrogen replacement therapy and management of other autoimmune conditions. phenio_relaxed_subqs.owl OBO:SCTID_76047005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001071 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0029076 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004854 biolink:NamedThing ophthalmia neonatorum Inflammation of the conjunctiva in a newborn due to chemical or infectious causes. Aseptic conjunctivitis is often related to the use of prophylactic medications for infectious conjunctivitis. Septic conjunctivitis is related to perinatal exposure to microorganisms. phenio_relaxed_subqs.owl DOID:9699 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009878 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C116815 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_34298002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0029106 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13768 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009746 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B66.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_121.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009889 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_1059007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007404 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0029119 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002312 biolink:NamedThing opportunistic mycosis A mycosis that arises from infection in an immunologically compromised host. phenio_relaxed_subqs.owl DOID:2473 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_118 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001867 biolink:NamedThing phaeohyphomycosis An opportunistic fungal infection caused by any of a variety of normally saprophytic fungi with hyaline hyphal elements. For example, Fusarium spp. infect neutropenic patients to cause pneumonia, fungemia, and disseminated infection with cutaneous lesions. phenio_relaxed_subqs.owl MONDO:0005846 biolink:NamedThing microsporidiosis A fungal infection caused by Microsporidia. It occurs in immunocompromised patients, causing diarrhea and wasting. phenio_relaxed_subqs.owl MONDO:0016426 biolink:NamedThing fusariosis Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections. phenio_relaxed_subqs.owl MONDO:0019136 biolink:NamedThing Zygomycosis Any infection due to a fungus of the Zygomycota phylum. The disease typically involves the rhino-facial-cranial area, lungs, gastrointestinal tract, skin, or less commonly other organ systems. The infecting fungi have a predilection for invading vessels of the arterial system, causing embolization and subsequent necrosis of surrounding tissue. phenio_relaxed_subqs.owl MONDO:0045033 biolink:NamedThing opportunistic systemic mycosis A mycosis that arises from infection in an immunologically compromised host and is systemic. phenio_relaxed_subqs.owl MONDO:0045037 biolink:NamedThing hyalohyphomycosis An opportunistic infection caused by a heterogeneous group of mitosporic fungi with clear (hyalo-) hyphae in the host. Common causative agents include acremonium; aspergillus; chrysosporium; fusarium; paecilomyces; penicillium; pseudallescheria; scedosporium; and scopulariopsis. Normally a dermatomycoses, it can become invasive in the immunocompromised host. phenio_relaxed_subqs.owl OBO:SCTID_78999002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0029125 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0043878 biolink:NamedThing hereditary optic atrophy A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve. phenio_relaxed_subqs.owl OBO:MESH_D015418 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008135 biolink:NamedThing optic atrophy 13 with retinal and foveal abnormalities phenio_relaxed_subqs.owl MONDO:0010698 biolink:NamedThing optic atrophy 2 Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected. phenio_relaxed_subqs.owl MONDO:0010788 biolink:NamedThing Leber hereditary optic neuropathy Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers. phenio_relaxed_subqs.owl MONDO:0011536 biolink:NamedThing optic atrophy 4 phenio_relaxed_subqs.owl MONDO:0013069 biolink:NamedThing autosomal recessive optic atrophy, OPA7 type phenio_relaxed_subqs.owl MONDO:0014753 biolink:NamedThing autosomal recessive optic atrophy phenio_relaxed_subqs.owl MONDO:0017196 biolink:NamedThing osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents. phenio_relaxed_subqs.owl MONDO:0020250 biolink:NamedThing autosomal dominant optic atrophy An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss. phenio_relaxed_subqs.owl MONDO:0033549 biolink:NamedThing optic atrophy 12 phenio_relaxed_subqs.owl NCIT:C34864 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_165500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_26360005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0029191 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2518 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_N45.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009920 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002509 biolink:NamedThing non-specific granulomatous orchitis Granulomatous inflammation of the testis. It is characterized by the formation of granulomas around the seminiferous tubules. History of trauma may be present. It is assumed to be a reactive process due to autoimmune phenomena. phenio_relaxed_subqs.owl MONDO:0004778 biolink:NamedThing epididymo-orchitis A disorder involving inflammation of the epididymis and testes. phenio_relaxed_subqs.owl NCIT:C97145 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_274718005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001078 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0029291 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005888 biolink:NamedThing ornithosis Disease caused by the Chlamydophila psittaci bacteria, usually transmitted from birds to humans. phenio_relaxed_subqs.owl DOID:11262 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007492 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_073.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009956 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34873 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_75116005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007410 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0029307 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205422 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050398 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128441 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_240453002 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_262461007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:64692 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0029411 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202658 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14283 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007299 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010004 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008172 biolink:NamedThing hypertrophic osteoarthropathy, primary, autosomal dominant phenio_relaxed_subqs.owl MONDO:0013756 biolink:NamedThing hypertrophic osteoarthropathy, primary, autosomal recessive, 2 Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the SLCO2A1 gene. phenio_relaxed_subqs.owl MONDO:0015466 biolink:NamedThing cranio-osteoarthropathy Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis. phenio_relaxed_subqs.owl MONDO:0024546 biolink:NamedThing hypertrophic osteoarthropathy, primary, autosomal recessive, 1 Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene. phenio_relaxed_subqs.owl NCIT:C85023 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_259100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_88220006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:248095 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2796 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0029417 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018936 biolink:NamedThing osteoblastoma A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent. phenio_relaxed_subqs.owl DOID:0060098 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018215 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3294 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000410 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:58040 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0029436 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003157 biolink:NamedThing disappearing bone disease Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (hajdu-cheney syndrome), or carpal/tarsal. phenio_relaxed_subqs.owl DOID:4837 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007057 biolink:NamedThing acroosteolysis dominant type Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics. phenio_relaxed_subqs.owl MONDO:0007414 biolink:NamedThing Gorham-Stout disease Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture. phenio_relaxed_subqs.owl OBO:SCTID_240161003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0029440 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005166 biolink:NamedThing osteoma A benign, well-circumscribed, bone-forming neoplasm predominantly composed of lamellar bone. It usually arises from the calvarial, facial, or jaw bones. It is usually asymptomatic but it may cause local swelling or obstruction of the paranasal sinuses. Asymptomatic cases have an indolent clinical course. phenio_relaxed_subqs.owl OBO:MESH_D010016 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008154 biolink:NamedThing osteomas of mandible phenio_relaxed_subqs.owl NCIT:C3296 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_302858007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0002423 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0029441 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009808 biolink:NamedThing osteoid osteoma A small, benign, bone-forming neoplasm that can arise from any bone but more frequently affects the long bones. The central portion of the neoplasm (nidus) contains differentiated osteoblasts which produce osteoid and sometimes bone. The lesion is usually surrounded by hypervascular sclerotic bone and has limited growth potential. Clinical signs and symptoms include pain and localized tenderness, at the site of the lesion. The pain may be intense but in the majority of cases it is completely alleviated by non-steroidal anti-inflammatory drugs. Prognosis is excellent and recurrences are rare. phenio_relaxed_subqs.owl OBO:MESH_D010017 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3297 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:259550 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_302859004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0029471 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005891 biolink:NamedThing ostertagiasis A disease of herbivorous mammals, particularly cattle and sheep, caused by stomach worms of the genus ostertagia. phenio_relaxed_subqs.owl DOID:3985 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010029 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007414 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0029882 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10754 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_382.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010033 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001141 biolink:NamedThing middle ear cholesterol granuloma As accumulation of granulation tissue in the middle ear that results from the degeneration of blood and a chronic inflammatory response. phenio_relaxed_subqs.owl MONDO:0001212 biolink:NamedThing non-suppurative otitis media A otitis media which involves transudation of fluid in the middle ear without pus formation. phenio_relaxed_subqs.owl MONDO:0005975 biolink:NamedThing suppurative otitis media Inflammation of the middle ear with purulent discharge. phenio_relaxed_subqs.owl MONDO:0021202 biolink:NamedThing allergic otitis media A otitis media (disease) with a basis in a pathological type I hypersensitivity reaction. phenio_relaxed_subqs.owl MONDO:0021204 biolink:NamedThing chronic otitis media Chronic form of otitis media (disease). phenio_relaxed_subqs.owl MONDO:0024330 biolink:NamedThing infectious otitis media Inflammation of the anatomical structures of the middle ear secondary to an infectious process. Bacterial etiology is most common, but both viral and fungal pathogens are also possible. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. In severe infections, inflammation and edema of the structures of the middle ear can lead to perforation of the tympanic membrane secondary to the buildup of pressure in the narrow space. phenio_relaxed_subqs.owl NCIT:C34885 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_65363002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0004992 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0029888 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11506 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_382.4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010035 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001031 biolink:NamedThing purulent acute otitis media Acute form of suppurative otitis media. phenio_relaxed_subqs.owl MONDO:0001920 biolink:NamedThing chronic purulent otitis media Otitis media that persists for at least six weeks, and that is associated with otorrhea through a perforated tympanic membrane. phenio_relaxed_subqs.owl MONDO:0001964 biolink:NamedThing chronic tubotympanic suppurative otitis media A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections. phenio_relaxed_subqs.owl OBO:SCTID_39288006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007503 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0029895 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000262 biolink:NamedThing otomycosis Fungus infection of the external ear, usually by aspergillus species phenio_relaxed_subqs.owl DOID:0050147 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D059249 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001052 biolink:NamedThing chronic fungal otitis externa Chronic form of otomycosis. phenio_relaxed_subqs.owl OBO:SCTID_53316003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0029896 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0395797 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010038 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000587 biolink:NamedThing autoimmune disease of ear, nose and throat An autoimmune form of otorhinolaryngologic disease. phenio_relaxed_subqs.owl MONDO:0015323 biolink:NamedThing teratogenic Pierre Robin syndrome phenio_relaxed_subqs.owl MONDO:0015335 biolink:NamedThing orofacial clefting syndrome phenio_relaxed_subqs.owl MONDO:0015386 biolink:NamedThing epignathus Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period. phenio_relaxed_subqs.owl MONDO:0015393 biolink:NamedThing nasal ganglioglioma Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction. phenio_relaxed_subqs.owl MONDO:0015409 biolink:NamedThing isolated congenital syngnathia Isolated congenital syngnathia is a very rare developmental defect during embryogenesis characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thive, malnutrition and/or temporomandibular joint ankylosis. phenio_relaxed_subqs.owl MONDO:0015476 biolink:NamedThing cysts and fistulae of the face and oral cavity phenio_relaxed_subqs.owl MONDO:0015482 biolink:NamedThing otomandibular dysplasia phenio_relaxed_subqs.owl MONDO:0015503 biolink:NamedThing nose and cavum anomaly phenio_relaxed_subqs.owl MONDO:0015504 biolink:NamedThing larynx anomaly phenio_relaxed_subqs.owl MONDO:0015505 biolink:NamedThing tracheal anomaly phenio_relaxed_subqs.owl MONDO:0015604 biolink:NamedThing middle ear anomaly phenio_relaxed_subqs.owl MONDO:0015743 biolink:NamedThing idiopathic bilateral vestibulopathy Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo. phenio_relaxed_subqs.owl MONDO:0016217 biolink:NamedThing mal de Debarquement Mal de debarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train. phenio_relaxed_subqs.owl MONDO:0017340 biolink:NamedThing juvenile nasopharyngeal angiofibroma Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures. phenio_relaxed_subqs.owl MONDO:0018187 biolink:NamedThing genetic syndromic Pierre Robin syndrome phenio_relaxed_subqs.owl MONDO:0018484 biolink:NamedThing semicircular canal dehiscence syndrome Semicircular canal dehiscence (SCD) syndrome is a rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms. phenio_relaxed_subqs.owl MONDO:0018955 biolink:NamedThing recurrent respiratory papillomatosis Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory infections, pneumonia, dysphagia, stridor, and/or failure to thrive. phenio_relaxed_subqs.owl MONDO:0019108 biolink:NamedThing silent sinus syndrome Silent sinus syndrome is characterised by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls. phenio_relaxed_subqs.owl MONDO:0044710 biolink:NamedThing lip and oral cavity squamous cell carcinoma A squamous cell carcinoma arising from the lip or the oral cavity. The oral cavity squamous cell carcinoma usually arises from the buccal mucosa, tongue, or gums. It occurs predominantly in adults who use tobacco and alcohol and has a tendency to metastasize early to lymph nodes. phenio_relaxed_subqs.owl NCIT:C118420 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_232208008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0029899 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005349 biolink:NamedThing otosclerosis Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs. phenio_relaxed_subqs.owl DOID:12185 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_387.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010040 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008164 biolink:NamedThing otosclerosis 1 phenio_relaxed_subqs.owl MONDO:0011586 biolink:NamedThing otosclerosis 2 phenio_relaxed_subqs.owl MONDO:0011999 biolink:NamedThing otosclerosis 3 phenio_relaxed_subqs.owl MONDO:0012046 biolink:NamedThing congenital corneal opacities, cornea guttata, and corectopia phenio_relaxed_subqs.owl MONDO:0012121 biolink:NamedThing otosclerosis 5 phenio_relaxed_subqs.owl MONDO:0012696 biolink:NamedThing otosclerosis 4 phenio_relaxed_subqs.owl MONDO:0012697 biolink:NamedThing otosclerosis 7 phenio_relaxed_subqs.owl MONDO:0012797 biolink:NamedThing otosclerosis 8 phenio_relaxed_subqs.owl MONDO:0014264 biolink:NamedThing otosclerosis 10 phenio_relaxed_subqs.owl OBO:OMIMPS_166800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_11543004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0004213 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2794 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0029928 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010049 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001889 biolink:NamedThing ovarian dysfunction The inability of the ovaries to function. phenio_relaxed_subqs.owl MONDO:0003282 biolink:NamedThing ovarian cyst phenio_relaxed_subqs.owl MONDO:0004194 biolink:NamedThing ovarian stromal hyperthecosis A non-neoplastic disorder that usually affects postmenopausal women. It is characterized by the leuteinization of ovarian stromal cells. The ovaries are bilaterally involved and enlarged. When it affects women in reproductive age, it causes virilization, high blood pressure, and increased insulin levels. phenio_relaxed_subqs.owl MONDO:0005387 biolink:NamedThing primary ovarian failure Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries. phenio_relaxed_subqs.owl MONDO:0006337 biolink:NamedThing ovarian endometriosis A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions. phenio_relaxed_subqs.owl MONDO:0021068 biolink:NamedThing ovarian neoplasm A benign, borderline, or malignant neoplasm involving the ovary. phenio_relaxed_subqs.owl MONDO:0025956 biolink:NamedThing ovarian remnant syndrome Ovarian remnant syndrome (ORS) is characterized by the presence of residual ovarian tissue after a woman has had surgery to remove one ovary or both ovaries (oophorectomy). Signs and symptoms may include pelvic pain, a pelvic mass, or the absence of menopause after oophorectomy. The condition may be caused by surgical factors leading to incomplete removal of ovarian tissue, including factors that limit surgical exposure of the ovary or compromise surgical technique. Factors may include pelvic adhesions (limiting ability to see the ovary or causing it to adhere to other tissues); anatomic variations; bleeding during surgery; or poor surgical technique. Treatment is indicated for people with symptoms and typically involves surgery to remove the residual tissue. Therapy for those who refuse surgery, cannot have surgery, or do not have a pelvic mass may include hormonal therapy to suppress ovarian function. phenio_relaxed_subqs.owl MONDO:0044098 biolink:NamedThing ovarian ectopic pregnancy An abnormal pregnancy in which the conception is implanted on the ovary. phenio_relaxed_subqs.owl NCIT:C26841 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_5552004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005771 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030100 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005746 biolink:NamedThing enterobiasis An infection that is caused by the nematode Enterobius vermicularis; it is characterized predominantly by perianal pruritus. phenio_relaxed_subqs.owl UMLS:C0086227 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7457 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B80 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_127.4 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128396 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_266162007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007254 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030105 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005659 biolink:NamedThing atrophic rhinitis A chronic inflammation in which the nasal mucosa gradually changes from a functional to a non-functional lining without mucociliary clearance. It is often accompanied by degradation of the bony turbinates, and the foul-smelling mucus which forms a greenish crust (ozena). phenio_relaxed_subqs.owl UMLS:C0035459 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4731 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012222 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_69646003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007159 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030271 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024674 biolink:NamedThing Pancoast syndrome A rare neoplastic syndrome characterized by obstruction of the thoracic outlet leading to compression of the brachial plexus and vessels within. It is usually caused by a malignant neoplasm in the superior pulmonary sulcus. The most commonly involved neoplasms are non-small cell lung carcinomas. Clinical signs include Horner's syndrome, shoulder pain radiating down the arm in the ulnar distribution followed by edema and atrophy of the affected extremity. Clinical course usually leads to early local invasion of the bony thoracic structures. Prognosis is highly stage-dependent. phenio_relaxed_subqs.owl OBO:MESH_D010178 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C55815 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_278065000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030305 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4989 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010195 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003232 biolink:NamedThing alcoholic pancreatitis Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics. phenio_relaxed_subqs.owl MONDO:0005003 biolink:NamedThing chronic pancreatitis A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus. phenio_relaxed_subqs.owl MONDO:0005589 biolink:NamedThing thiopurine immunosuppressant-induced pancreatitis Pancreatits that is the result of treatment with thiopurine immunosuppressants such as azathioprine or mercaptopurine. phenio_relaxed_subqs.owl MONDO:0015175 biolink:NamedThing autoimmune pancreatitis Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels. phenio_relaxed_subqs.owl NCIT:C3306 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_75694006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000278 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030326 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1526 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_729.30 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015434 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018063 biolink:NamedThing nodular non-suppurative panniculitis Nodular non-suppurative panniculitis, known as Weber-Christian disease (WCD), is a rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat. phenio_relaxed_subqs.owl MONDO:0019555 biolink:NamedThing panniculitis and localized lipodystrophy phenio_relaxed_subqs.owl MONDO:0019561 biolink:NamedThing lupus erythematosus panniculitis A type of lupus erythematosus characterized by deep dermal or subcutaneous nodules, most often on the head, face, or upper arms. It is generally chronic and occurs most often in women between the ages of 20 and 45. phenio_relaxed_subqs.owl MONDO:0019789 biolink:NamedThing cytophagic histiocytic panniculitis Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue. phenio_relaxed_subqs.owl MONDO:0023646 biolink:NamedThing lipodermatosclerosis Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy. phenio_relaxed_subqs.owl NCIT:C33645 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_22125009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000746 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030327 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015435 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C82884 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_15084002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90285 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030328 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1525 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007879 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010201 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_33760009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000742 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:33577 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030360 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3389 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010214 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84992 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:245000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_40158001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:678 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030372 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005913 biolink:NamedThing phlebotomus fever Influenza-like febrile viral disease caused by several members of the bunyaviridae family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii. phenio_relaxed_subqs.owl DOID:11360 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A93.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_066.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010217 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_407476002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007437 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030409 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005894 biolink:NamedThing paracoccidioidomycosis A systemic fungal infection caused by Paracoccidioides brasiliensis that is most often seen in immunocompromised patients. It affects the mucous membranes, lymph nodes, lungs and bones. phenio_relaxed_subqs.owl DOID:12662 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007323 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B41 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010229 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34891 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_36866003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007417 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:73260 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030421 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050773 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010235 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006239 biolink:NamedThing head and neck paraganglioma A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas. phenio_relaxed_subqs.owl MONDO:0007273 biolink:NamedThing paragangliomas 4 Any paraganglioma in which the cause of the disease is a mutation in the SDHB gene. phenio_relaxed_subqs.owl MONDO:0008192 biolink:NamedThing paragangliomas 1 Any paraganglioma in which the cause of the disease is a mutation in the SDHD gene. phenio_relaxed_subqs.owl MONDO:0011121 biolink:NamedThing paragangliomas 2 Any paraganglioma in which the cause of the disease is a mutation in the SDHAF2 gene. phenio_relaxed_subqs.owl MONDO:0011544 biolink:NamedThing paragangliomas 3 Any paraganglioma in which the cause of the disease is a mutation in the SDHC gene. phenio_relaxed_subqs.owl MONDO:0013602 biolink:NamedThing paragangliomas 5 Any paraganglioma in which the cause of the disease is a mutation in the SDHA gene. phenio_relaxed_subqs.owl MONDO:0017190 biolink:NamedThing sporadic pheochromocytoma/secreting paraganglioma Sporadic pheochromocytoma/secreting paraganglioma are isolated, non-familial, catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating. phenio_relaxed_subqs.owl MONDO:0019788 biolink:NamedThing non-secreting paraganglioma Non-functioning paraganglioma is a rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel Lindau syndrome, may be observed. phenio_relaxed_subqs.owl MONDO:0021052 biolink:NamedThing parasympathetic paraganglioma A benign or malignant, usually non-functioning, extra-adrenal paraganglioma that arises from paraganglia located along the parasympathetic nerves. Representative examples include aorticopulmonary, carotid body, jugulotympanic, and mediastinal paragangliomas. phenio_relaxed_subqs.owl MONDO:0021072 biolink:NamedThing sympathetic paraganglioma A benign or malignant paraganglioma arising from the chromaffin cells of the paraganglia that are located along the sympathetic nerves. It includes extra-adrenal paragangliomas and paragangliomas that arise from the adrenal medulla. The latter are commonly referred to as pheochromocytomas. Representative examples of extra-adrenal sympathetic paragangliomas include the bladder, and superior and inferior paraaortic paragangliomas. Clinical signs are related to the secretion of catecholamines resulting in hypertension. phenio_relaxed_subqs.owl MONDO:0023682 biolink:NamedThing tympanic paraganglioma A benign or malignant middle ear paraganglioma arising from paraganglia around the tympanum. Signs and symptoms include a mass behind the tympanum, tinnitus, and conductive hearing loss. phenio_relaxed_subqs.owl MONDO:0032767 biolink:NamedThing paragangliomas 6 phenio_relaxed_subqs.owl MONDO:0032771 biolink:NamedThing paragangliomas 7 phenio_relaxed_subqs.owl MONDO:0044768 biolink:NamedThing vagus nerve paraganglioma A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia. phenio_relaxed_subqs.owl NCIT:C3308 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_168000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_PGNG biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_127027008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000453 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030424 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10699 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009815 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B66.4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_121.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010237 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84995 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_30369007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007418 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030469 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1352 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010254 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005289 biolink:NamedThing paranasal sinus neoplasm A benign or malignant neoplasm that affects the paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. phenio_relaxed_subqs.owl MONDO:0006577 biolink:NamedThing maxillary sinus cholesteatoma A rare, progressive, non-neoplastic pathologic process that arises from the maxillary sinus mucosal epithelium. It is characterized by the proliferation of keratinizing squamous epithelium and the formation of keratin sheets. It may lead to bone erosion and infections. Surgical removal is the appropriate treatment. phenio_relaxed_subqs.owl MONDO:0021404 biolink:NamedThing polyp of sphenoidal sinus A polyp that involves the sphenoidal sinus. phenio_relaxed_subqs.owl MONDO:0021408 biolink:NamedThing polyp of frontal sinus A polyp that involves the frontal sinus. phenio_relaxed_subqs.owl MONDO:0021412 biolink:NamedThing polyp of maxillary sinus A polyp that involves the maxillary sinus. phenio_relaxed_subqs.owl MONDO:0021418 biolink:NamedThing polyp of ethmoidal sinus A polyp that involves the ethmoid sinus. phenio_relaxed_subqs.owl NCIT:C26843 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_7393007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030470 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1350 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001757 biolink:NamedThing frontal sinus neoplasm A benign or malignant neoplasm that affects the frontal sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. phenio_relaxed_subqs.owl MONDO:0001764 biolink:NamedThing ethmoidal sinus neoplasm A benign or malignant neoplasm that affects the ethmoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. phenio_relaxed_subqs.owl MONDO:0004047 biolink:NamedThing sphenoidal sinus neoplasm A benign or malignant neoplasm that affects the sphenoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. phenio_relaxed_subqs.owl MONDO:0006353 biolink:NamedThing paranasal sinus Schneiderian papilloma A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma. phenio_relaxed_subqs.owl MONDO:0020669 biolink:NamedThing paranasal sinus cancer A primary or metastatic malignant neoplasm involving the paranasal sinuses. phenio_relaxed_subqs.owl NCIT:C7488 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_126675008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0003866 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030472 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021073 biolink:NamedThing paraneoplastic syndrome A classification for rare disorders of diverse organ systems (endocrine, neuromuscular, gastrointestinal, renal, dermatologic, rheumatologic, hematologic) that are affected by substances secreted by a distant neoplasm but not by the action of the neoplasm itself metastasizing to that organ or tissue. Less than 1 % of neoplasms are associated with these syndromes. An immune-mediated response to neoplasm-elaborated proteins may be the cause of these syndromes. Additionally, their manifestation may signal the presence of an occult neoplasm, potentially at an earlier stage of disease thereby leading to a better clinical outcome. Constitutional signs may include fever, night sweats, anorexia and cachexia. Clinical course is usually progressive. Prognosis is variable depending on the effective treatment of the underlying neoplasm. phenio_relaxed_subqs.owl OBO:MESH_D010257 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006888 biolink:NamedThing paraneoplastic polyneuropathy A diffuse or multifocal peripheral neuropathy caused by the effects of a distant neoplasm. It may be attributed, in part, to the immune response to neoplasm-elaborated proteins. The neuropathy may be sensory, motor, mixed or autonomic. It may be the initial presentation of an occult neoplasm. Detection and resection of the neoplasm may result in cure. phenio_relaxed_subqs.owl MONDO:0016174 biolink:NamedThing paraneoplastic sensory ganglionopathy phenio_relaxed_subqs.owl MONDO:0017212 biolink:NamedThing paraneoplastic uveitis phenio_relaxed_subqs.owl MONDO:0018215 biolink:NamedThing paraneoplastic neurologic syndrome A paraneoplastic syndrome that involves the nervous system. phenio_relaxed_subqs.owl MONDO:0018974 biolink:NamedThing paraneoplastic pemphigus Pemphigus is a group of chronic autoimmune skin diseases characterised by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which paraneoplastic pemphigus is extremely rare. phenio_relaxed_subqs.owl MONDO:0044877 biolink:NamedThing paraneoplastic cerebellar degeneration A rare, immune-mediated disorder characterized by cerebellar degeneration due to the presence of an often undetected malignancy (usually carcinoma or lymphoma) in an anatomic site other than the cerebellum. Signs and symptoms include progressive ataxia, dysarthria, and nystagmus. phenio_relaxed_subqs.owl NCIT:C3311 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_49783001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030481 biolink:NamedThing phenio_relaxed_subqs.owl DOID:321 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008208 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015493 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:159580 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_714279000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007527 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:289326 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010273 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0025114 biolink:NamedThing protozoan infections, animal Infections with unicellular organisms formerly members of the subkingdom Protozoa. The infections may be experimental or veterinary. phenio_relaxed_subqs.owl UMLS:C0030517 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11201 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_252.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010279 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001220 biolink:NamedThing hypoparathyroidism Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms includeabdominal pain, brittle nails, cataracts, dry hair and skin,muscle cramps,tetany, pain in the face, legs, and feet, seizures, tingling sensation,and weakened tooth enamel (in children). It may be caused byinjury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body. phenio_relaxed_subqs.owl MONDO:0006354 biolink:NamedThing parathyroid hyperplasia A hyperplasia that involves the parathyroid gland. phenio_relaxed_subqs.owl MONDO:0021360 biolink:NamedThing tumor of parathyroid gland A neoplasm (disease) that involves the parathyroid gland. phenio_relaxed_subqs.owl NCIT:C26844 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_73132005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005754 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030524 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010283 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030528 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018626 biolink:NamedThing paratyphoid fever A condition resembling typhoid fever that is caused by infection by Salmonella enterica serovar Parathyphi. phenio_relaxed_subqs.owl UMLS:C0343375 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0343376 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0343377 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3055 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_002.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010284 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34897 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_51254007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007420 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:443227 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030567 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005180 biolink:NamedThing Parkinson disease A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression. phenio_relaxed_subqs.owl DOID:14330 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_332.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010300 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000828 biolink:NamedThing juvenile-onset Parkinson disease phenio_relaxed_subqs.owl MONDO:0008199 biolink:NamedThing late-onset Parkinson disease A Parkinson disease that begins after around the age of 50. phenio_relaxed_subqs.owl MONDO:0009830 biolink:NamedThing parkinsonian-pyramidal syndrome A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3. phenio_relaxed_subqs.owl MONDO:0010796 biolink:NamedThing Parkinson disease, mitochondrial phenio_relaxed_subqs.owl MONDO:0011613 biolink:NamedThing autosomal recessive early-onset Parkinson disease 6 Any Parkinson disease in which the cause of the disease is a mutation in the PINK1 gene. phenio_relaxed_subqs.owl MONDO:0011658 biolink:NamedThing autosomal recessive early-onset Parkinson disease 7 Any Parkinson disease in which the cause of the disease is a mutation in the PARK7 gene. phenio_relaxed_subqs.owl MONDO:0011764 biolink:NamedThing autosomal dominant Parkinson disease 8 Any Parkinson disease in which the cause of the disease is a mutation in the LRRK2 gene. phenio_relaxed_subqs.owl MONDO:0013167 biolink:NamedThing parkinson disease 16 phenio_relaxed_subqs.owl MONDO:0013625 biolink:NamedThing Parkinson disease 17 Any Parkinson disease in which the cause of the disease is a mutation in the VPS35 gene. phenio_relaxed_subqs.owl MONDO:0014231 biolink:NamedThing juvenile onset Parkinson disease 19A Any Parkinson disease in which the cause of the disease is a mutation in the DNAJC6 gene. phenio_relaxed_subqs.owl MONDO:0014233 biolink:NamedThing early-onset Parkinson disease 20 Any Parkinson disease in which the cause of the disease is a mutation in the SYNJ1 gene. phenio_relaxed_subqs.owl MONDO:0014742 biolink:NamedThing Parkinson disease 22, autosomal dominant Any Parkinson disease in which the cause of the disease is a mutation in the CHCHD2 gene. phenio_relaxed_subqs.owl MONDO:0017279 biolink:NamedThing young-onset Parkinson disease A form of Parkinson disease (PD) characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms. phenio_relaxed_subqs.owl NCIT:C26845 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_168600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_49049000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0002508 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:319705 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030584 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002965 biolink:NamedThing parovarian cyst A cyst (cysts) near the ovary, derived from anomalies of the fallopian tubes or the broad ligament. The paramesonephric type consists of ciliated cells similar to the oviduct epithelium. The mesonephric type consisted of an epithelium with minimally surface structures. They can be found on the thin oviduct (paratubal cysts) or near its fimbriated end (hydatid of Morgagni). phenio_relaxed_subqs.owl DOID:4333 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010310 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_64233004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030612 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010319 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_405256006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030636 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11055 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A28.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_027.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010326 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0040998 biolink:NamedThing Pasteurella multocida infectious disease phenio_relaxed_subqs.owl OBO:SCTID_83172007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007424 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030756 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153317 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0277351 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5502 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B85.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010373 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001794 biolink:NamedThing Pthirus pubis infestation Infestation of the pubic hair by the pthirus pubis parasite which results in mild to intense itching and macular lesions. The parasite, also known as crab lice, is transmitted through skin to skin contact with an infected person or through direct contact with infested objects. phenio_relaxed_subqs.owl MONDO:0003471 biolink:NamedThing Pediculus humanus capitis infestation A infectious disease involving Pediculus humanus capitis. phenio_relaxed_subqs.owl MONDO:0003482 biolink:NamedThing Pediculus humanus corporis infestation A infectious disease involving the Pediculus humanus corporis. phenio_relaxed_subqs.owl NCIT:C128401 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030757 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5501 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_132.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_81000006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030758 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5513 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_132.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_25188002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030759 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13760 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B85.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_132.2 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35777 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_71011005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030779 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008214 biolink:NamedThing Pelger-Huet anomaly An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear. phenio_relaxed_subqs.owl DOID:9631 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009148 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010381 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85002 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:169400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_85559002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001093 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030783 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019975 biolink:NamedThing pellagra Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management. phenio_relaxed_subqs.owl UMLS:C4317126 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8457 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010014 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010383 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_418279001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0008570 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:97352 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030848 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8616 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:171000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2870 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030920 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004247 biolink:NamedThing peptic ulcer disease A mucosal erosion that occurs in the esophagus, stomach or duodenum. Symptoms can include abdominal pain, nausea and vomiting, and bleeding. phenio_relaxed_subqs.owl DOID:750 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010437 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001126 biolink:NamedThing gastric ulcer An ulcerated lesion in the mucosal surface of the stomach. It may progress to involve the deeper layers of the gastric wall. phenio_relaxed_subqs.owl MONDO:0001155 biolink:NamedThing gastrojejunal ulcer phenio_relaxed_subqs.owl MONDO:0004242 biolink:NamedThing active peptic ulcer disease phenio_relaxed_subqs.owl MONDO:0004260 biolink:NamedThing peptic ulcer perforation Penetration of a peptic ulcer through the wall of duodenum or stomach allowing the leakage of luminal contents into the peritoneal cavity. phenio_relaxed_subqs.owl MONDO:0004628 biolink:NamedThing gastroduodenitis phenio_relaxed_subqs.owl MONDO:0005412 biolink:NamedThing duodenal ulcer An ulcer in the duodenal wall. phenio_relaxed_subqs.owl NCIT:C3318 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_13200003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0030925 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0267291 biolink:NamedThing phenio_relaxed_subqs.owl DOID:752 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010439 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_79118000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001389 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0031036 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019170 biolink:NamedThing polyarteritis nodosa Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney. phenio_relaxed_subqs.owl DOID:9810 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007360 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_M30.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_446.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010488 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018593 biolink:NamedThing primary polyarteritis nodosa phenio_relaxed_subqs.owl MONDO:0018594 biolink:NamedThing secondary polyarteritis nodosa Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV). phenio_relaxed_subqs.owl NCIT:C26847 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_155441006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:767 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0031049 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005903 biolink:NamedThing pericardial tuberculosis Inflammation of the sac surrounding the heart (pericardium) due to mycobacterium tuberculosis infection. Pericarditis can lead to swelling (pericardial effusion), compression of the heart (cardiac tamponade), and preventing normal beating of the heart. phenio_relaxed_subqs.owl DOID:4962 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010495 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_67256000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007426 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0031052 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14272 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34916 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111373008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0031069 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018088 biolink:NamedThing familial Mediterranean fever Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles. phenio_relaxed_subqs.owl DOID:2987 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006421 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_277.31 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010505 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007601 biolink:NamedThing familial Mediterranean fever, autosomal dominant phenio_relaxed_subqs.owl MONDO:0009572 biolink:NamedThing autosomal recessive familial Mediterranean fever Autosomal recessive form of familial Mediterranean fever. phenio_relaxed_subqs.owl NCIT:C84707 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_12579009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:342 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0031106 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1474 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010520 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:170650 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0006342 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0031111 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9957 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010522 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001231 biolink:NamedThing orbital periostitis phenio_relaxed_subqs.owl NCIT:C13184 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_41910004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0031157 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_J36 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_475 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000039 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128322 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_15033003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007429 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0031190 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009934 biolink:NamedThing alveolar capillary dysplasia with misalignment of pulmonary veins A rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension. phenio_relaxed_subqs.owl DOID:13042 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008644 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_P29.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536590 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010547 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C98809 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:265380 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_447275002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001103 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:210122 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0031269 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008280 biolink:NamedThing Peutz-Jeghers syndrome Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies. phenio_relaxed_subqs.owl UMLS:C1333088 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3852 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007378 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010580 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3324 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:175200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_54411001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2869 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0031306 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3262 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010585 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007433 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0031351 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005911 biolink:NamedThing pharyngoconjunctival fever A condition characterized by fever, conjunctivitis, and pharyngitis resulting from infection by adenovirus. phenio_relaxed_subqs.owl DOID:13801 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_077.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000258 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34924 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_70385007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007434 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0031485 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009861 biolink:NamedThing phenylketonuria Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients. phenio_relaxed_subqs.owl DOID:9281 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007383 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010661 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016366 biolink:NamedThing maternal phenylketonuria Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations. phenio_relaxed_subqs.owl MONDO:0017389 biolink:NamedThing tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase. phenio_relaxed_subqs.owl MONDO:0019258 biolink:NamedThing mild phenylketonuria Mild phenylketonuria is a rare form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity. phenio_relaxed_subqs.owl MONDO:0019259 biolink:NamedThing classic phenylketonuria Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications. phenio_relaxed_subqs.owl MONDO:0019335 biolink:NamedThing mild hyperphenylalaninemia Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by mild symptoms of HPA. phenio_relaxed_subqs.owl NCIT:C81315 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:261600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_7573000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:716 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0031707 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002319 biolink:NamedThing phosphorus metabolism disease A metabolic disorder that affects the phosphate homeostasis. phenio_relaxed_subqs.owl DOID:2485 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E83.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_275.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010760 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000313 biolink:NamedThing hypophosphatemia Lower than normal levels of phosphates in the circulating blood. phenio_relaxed_subqs.owl MONDO:0000328 biolink:NamedThing hyperphosphatemia Abnormally high level of phosphate in the blood. phenio_relaxed_subqs.owl NCIT:C97095 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_87049008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0031880 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010845 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:257500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_190966007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0031887 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005914 biolink:NamedThing Picornaviridae infectious disease Virus diseases caused by the picornaviridae. phenio_relaxed_subqs.owl OBO:MESH_D010850 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005691 biolink:NamedThing cardiovirus infectious disease Infections caused by viruses of the genus cardiovirus, family picornaviridae. phenio_relaxed_subqs.owl EFO:0007438 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0031898 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000253 biolink:NamedThing piedra Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, moustache and genital areas and is caused by Trichosporon species. phenio_relaxed_subqs.owl OBO:MESH_D010854 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001827 biolink:NamedThing white piedra A superficial mycosis due to T beigelii that is characterized by a soft, friable, beige nodule of the distal ends of hair shafts. phenio_relaxed_subqs.owl MONDO:0005669 biolink:NamedThing black piedra A superficial mycosis that is caused by Piedraia hortae and is manifested by a small firm black nodule involving the hair shaft. phenio_relaxed_subqs.owl OBO:SCTID_402135006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0031946 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000979 biolink:NamedThing pinta disease An endemic bacterial infection caused by Treponema carateum. It is manifested with chronic cutaneous lesions. The early lesions consist of papules and erythematous plaques. The late lesions consist of hypochromic, achromic, hyperpigmented and atrophic lesions. The late skin lesions may cause destruction of bones and cartilage and produce disfiguring changes. phenio_relaxed_subqs.owl DOID:1022 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007397 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_103.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010874 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85011 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_22064009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001396 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0032000 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006373 biolink:NamedThing pituitary gland adenoma A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss. phenio_relaxed_subqs.owl DOID:3829 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003429 biolink:NamedThing functioning pituitary gland adenoma A hormone producing pituitary gland adenoma, associated with a hormonal syndrome. phenio_relaxed_subqs.owl MONDO:0004133 biolink:NamedThing pituitary gland mixed eosinophil-basophil adenoma An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic and basic dyes. phenio_relaxed_subqs.owl MONDO:0006068 biolink:NamedThing ACTH-producing pituitary gland adenoma An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion. phenio_relaxed_subqs.owl MONDO:0006238 biolink:NamedThing growth hormone-producing pituitary gland adenoma An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly. phenio_relaxed_subqs.owl MONDO:0017824 biolink:NamedThing familial isolated pituitary adenoma phenio_relaxed_subqs.owl MONDO:0019613 biolink:NamedThing non-functioning pituitary adenoma A hormone producing or non-producing pituitary gland adenoma not associated with a hormonal syndrome. phenio_relaxed_subqs.owl NCIT:C3329 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_PTAD biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254956000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000478 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99408 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0032001 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006908 biolink:NamedThing pituitary apoplexy A rare, potentially life-threatening disorder caused by acute ischemic infarction or hemorrhage in the pituitary gland. It is most often associated with the presence of a pituitary gland adenoma. Signs and symptoms include headache, vomiting, visual disturbances, and endocrine dysfunction. phenio_relaxed_subqs.owl DOID:1129 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010899 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C26853 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237701005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001108 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:95613 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0032019 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017611 biolink:NamedThing pituitary tumor A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland. phenio_relaxed_subqs.owl MONDO:0002109 biolink:NamedThing pituitary cancer A primary or metastatic malignant neoplasm affecting the pituitary gland. Representative examples include functioning or non-functioning carcinomas arising from the anterior lobe of the pituitary gland, chordomas, chondrosarcomas, and metastatic carcinomas from the breast, lung, and gastrointestinal tract. phenio_relaxed_subqs.owl MONDO:0003257 biolink:NamedThing posterior pituitary gland neoplasm A low-grade neoplasm that arises from the neurohypophysis. It includes the granular cell tumor of the neurohypophysis and pituicytoma. phenio_relaxed_subqs.owl MONDO:0003430 biolink:NamedThing prolactin producing pituitary tumor An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces prolactin. phenio_relaxed_subqs.owl MONDO:0003603 biolink:NamedThing non-functioning pituitary gland neoplasm A hormone producing or non-producing pituitary gland adenoma or carcinoma, not associated with a hormonal syndrome. phenio_relaxed_subqs.owl MONDO:0003604 biolink:NamedThing functioning pituitary gland neoplasm A hormone producing pituitary gland tumor, associated with a hormonal syndrome. phenio_relaxed_subqs.owl MONDO:0016167 biolink:NamedThing optic pathway glioma Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1). phenio_relaxed_subqs.owl MONDO:0019615 biolink:NamedThing pituitary dermoid and epidermoid cysts phenio_relaxed_subqs.owl MONDO:0019927 biolink:NamedThing growth hormone-producing pituitary gland neoplasm An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces growth hormone. phenio_relaxed_subqs.owl MONDO:0021439 biolink:NamedThing benign neoplasm of pituitary gland A benign neoplasm that involves the pituitary gland. phenio_relaxed_subqs.owl MONDO:0045058 biolink:NamedThing ACTH-producing pituitary gland neoplasm An adenoma or carcinoma of the pituitary gland that produces corticotropin. phenio_relaxed_subqs.owl NCIT:C3330 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_127024001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:304055 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0032051 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005919 biolink:NamedThing placental insufficiency Failure of the placenta to deliver an adequate supply of nutrients and oxygen to the fetus. phenio_relaxed_subqs.owl DOID:3891 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010927 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237292005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007443 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:439167 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0032064 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019095 biolink:NamedThing plague Plague is a severe bacterial infection caused by the gram-negative bacterium Yersinia pestis. phenio_relaxed_subqs.owl DOID:3482 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A20 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010930 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001024 biolink:NamedThing pneumonic plague A plague in which the bacteria have infected the lungs. phenio_relaxed_subqs.owl MONDO:0001112 biolink:NamedThing bubonic plague A plague in which the bacteria have infected the lymphatic system. phenio_relaxed_subqs.owl MONDO:0005956 biolink:NamedThing septicemic plague A plague in which the bacteria have entered the bloodstream. phenio_relaxed_subqs.owl NCIT:C85015 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_58750007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:707 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0032238 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005751 biolink:NamedThing epidemic pleurodynia An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses. phenio_relaxed_subqs.owl DOID:10882 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B33.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_074.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_83264000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007259 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0032241 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001940 biolink:NamedThing pleuropneumonia Inflammation of the lung parenchyma that is associated with pleurisy, inflammation of the pleura. phenio_relaxed_subqs.owl DOID:14319 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011001 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_60485005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0032243 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005716 biolink:NamedThing contagious pleuropneumonia A pleuropneumonia of cattle and goats caused by species of mycoplasma. phenio_relaxed_subqs.owl OBO:MESH_D011002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007221 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0032249 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018895 biolink:NamedThing Plummer-Vinson syndrome Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. phenio_relaxed_subqs.owl OBO:GARD_0008259 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011004 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85016 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_80126007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:54028 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0032269 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005114 biolink:NamedThing pneumococcal infection Infections with bacteria of the species streptococcus pneumoniae. phenio_relaxed_subqs.owl OBO:ICD9_041.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011008 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:8000003 biolink:NamedThing streptococcus pneumoniae discitis Discitis caused by infection with Streptococcus pneumoniae. phenio_relaxed_subqs.owl OBO:SCTID_16814004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000772 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0032285 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005249 biolink:NamedThing pneumonia An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, caused by an infection in one or both of the lungs (by bacteria, viruses, fungi, or mycoplasma.). Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness. phenio_relaxed_subqs.owl DOID:552 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_J18.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_486 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011014 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002429 biolink:NamedThing idiopathic interstitial pneumonia A class of diffuse lung diseases that typically affect the pulmonary interstitium, although some also have a component affecting the airways (for instance, Cryptogenic organizing pneumonitis). phenio_relaxed_subqs.owl MONDO:0005749 biolink:NamedThing eosinophilic pneumonia An inflammatory lung disorder characterized by an increased number of eosinophils in the lungs. The majority of cases are idiopathic, without identifiable cause. In a minority of cases, medications, fungal infections, and environmental triggers have been implicated. It manifests as acute or chronic. Acute eosinophilic pneumonia is a severe and rapidly progressing pneumonia that may lead to respiratory failure requiring mechanical ventilation. Chronic eosinophilic pneumonia follows a slower course and manifests as fever, dyspnea, cough, and weight loss. phenio_relaxed_subqs.owl MONDO:0005936 biolink:NamedThing recurrent pneumonia Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see mycobacterium avium complex;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae. phenio_relaxed_subqs.owl MONDO:0005947 biolink:NamedThing rickettsial pneumonia Pneumonia caused by infection with bacteria of the family rickettsiaceae. phenio_relaxed_subqs.owl MONDO:0006012 biolink:NamedThing viral pneumonia Inflammation of the lung parenchyma that is caused by a viral infection. phenio_relaxed_subqs.owl MONDO:0015265 biolink:NamedThing bronchiolitis obliterans with obstructive pulmonary disease Bronchiolitis obliterans syndrome (BOS) is a lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction. phenio_relaxed_subqs.owl MONDO:0025598 biolink:NamedThing pneumonia caused by chlamydia An pneumonia caused by infection with Chlamydia. phenio_relaxed_subqs.owl MONDO:0041879 biolink:NamedThing staphylococcus aureus pneumonia An pneumonia caused by infection with Staphylococcus aureus. phenio_relaxed_subqs.owl MONDO:0500018 biolink:NamedThing acute fibrinous and organizing pneumonia A rare pulmonary disease with histological pattern of interstitial pneumonitis characterized by the deposit of intra-alveolar fibrin and diffuse organizing pneumonia within the alveolar ducts and bronchioles, with large etiological spectra. phenio_relaxed_subqs.owl NCIT:C3333 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_233604007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0003106 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0032306 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0025453 biolink:NamedThing pneumonia, progressive interstitial, of sheep Chronic respiratory disease caused by the visna-maedi virus. It was formerly believed to be identical with jaagsiekte (pulmonary adenomatosis, ovine) but is now recognized as a separate entity. phenio_relaxed_subqs.owl OBO:MESH_D011021 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0032307 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011022 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_233621003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007472 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0032310 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10533 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_480.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011024 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_75570004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007541 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0032339 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2732 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004392 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011038 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016368 biolink:NamedThing Rothmund-Thomson syndrome type 1 Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer. phenio_relaxed_subqs.owl MONDO:0016369 biolink:NamedThing Rothmund-Thomson syndrome type 2 Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life. phenio_relaxed_subqs.owl NCIT:C3335 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_268400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_69093006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2909 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0032357 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008262 biolink:NamedThing Poland syndrome Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly. phenio_relaxed_subqs.owl DOID:12961 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007412 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011045 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85017 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:173800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_38371006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2911 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0032371 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017373 biolink:NamedThing poliomyelitis An acute infectious disorder that affects the nervous system. It is caused by the poliovirus. The virus spreads by direct contact, and can be prevented by prophylaxis with the polio vaccine. phenio_relaxed_subqs.owl DOID:4953 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007413 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_045.90 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011051 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000341 biolink:NamedThing paralytic poliomyelitis A poliomyelitis that results in destruction located in motor neurons of central nervous system, has material basis in Human poliovirus 1, has material basis in Human poliovirus 2, or has material basis in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis. phenio_relaxed_subqs.owl MONDO:0003231 biolink:NamedThing acute nonparalytic poliomyelitis A poliomyelitis that does not exhibit paralysis. phenio_relaxed_subqs.owl MONDO:0017416 biolink:NamedThing postpoliomyelitis syndrome Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis, 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing. phenio_relaxed_subqs.owl NCIT:C35550 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_398102009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007450 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2912 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0032372 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005684 biolink:NamedThing bulbar polio A form of paralytic poliomyelitis affecting neurons of the medulla oblongata of the brain stem. Clinical features include impaired respiration, hypertension, alterations of vasomotor control, and dysphagia. Weakness and atrophy of the limbs and trunk due to spinal cord involvement is usually associated. (From Adams et al., Principles of Neurology, 6th ed, p765) phenio_relaxed_subqs.owl DOID:9786 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011052 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007186 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0032460 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11612 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_256.4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011085 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C26862 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:184700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_69878008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000660 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3185 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0032533 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019735 biolink:NamedThing polymyalgia rheumatica A syndrome characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. There is no muscle atrophy and muscle biopsies do not reveal pathologic changes. Additional signs and symptoms include low grade fever, fatigue and depression. phenio_relaxed_subqs.owl UMLS:C1527406 biolink:NamedThing phenio_relaxed_subqs.owl DOID:853 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004704 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_725 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011111 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85018 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_65323003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93569 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0032580 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021055 biolink:NamedThing classic familial adenomatous polyposis Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life. phenio_relaxed_subqs.owl UMLS:CN240755 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050424 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006408 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012041 biolink:NamedThing MUTYH-related attenuated familial adenomatous polyposis An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur. phenio_relaxed_subqs.owl MONDO:0014630 biolink:NamedThing NTHL1-related attenuated familial adenomatous polyposis phenio_relaxed_subqs.owl MONDO:0016860 biolink:NamedThing familial adenomatous polyposis due to 5q22.2 microdeletion phenio_relaxed_subqs.owl MONDO:0020497 biolink:NamedThing Turcot syndrome with polyposis Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions. phenio_relaxed_subqs.owl MONDO:0021056 biolink:NamedThing familial adenomatous polyposis 1 Any attenuated familial adenomatous polyposis in which the cause of the disease is a mutation in the APC gene. phenio_relaxed_subqs.owl MONDO:0044300 biolink:NamedThing familial adenomatous polyposis 4 Familial adenomatous polyposis-4 is an autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur (summary by {1:Adam et al., 2016}).nnFor a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (OMIM:175100). phenio_relaxed_subqs.owl NCIT:C3339 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_175100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_72900001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:733 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0032708 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019142 biolink:NamedThing inherited porphyria Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both. phenio_relaxed_subqs.owl DOID:13268 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010353 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011164 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001676 biolink:NamedThing erythropoietic protoporphyria A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly. phenio_relaxed_subqs.owl MONDO:0007369 biolink:NamedThing hereditary coproporphyria Hereditary coproporphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions. phenio_relaxed_subqs.owl MONDO:0008294 biolink:NamedThing acute intermittent porphyria Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations. phenio_relaxed_subqs.owl MONDO:0008296 biolink:NamedThing familial porphyria cutanea tarda An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0008297 biolink:NamedThing variegate porphyria Variegate porphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions. phenio_relaxed_subqs.owl MONDO:0009902 biolink:NamedThing cutaneous porphyria Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis. phenio_relaxed_subqs.owl MONDO:0013000 biolink:NamedThing porphyria due to ALA dehydratase deficiency Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations. phenio_relaxed_subqs.owl MONDO:0017231 biolink:NamedThing erythropoietic uroporphyria associated with myeloid malignancy phenio_relaxed_subqs.owl MONDO:0022714 biolink:NamedThing chester porphyria Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in other acute porphyrias. Treatment is symptomatic. phenio_relaxed_subqs.owl NCIT:C97096 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_371628009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:738 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0032763 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004566 biolink:NamedThing postgastrectomy syndrome Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (dumping syndrome and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies. phenio_relaxed_subqs.owl DOID:8439 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_564.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011178 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_80193009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0032851 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011201 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0025293 biolink:NamedThing poult enteritis mortality syndrome An acute, transmissible, infectious disease associated with high mortality and morbidity in young turkeys (poults). It is characterized by diarrhea; anorexia; growth depression, and immune dysfunction. The cause is unknown but astroviruses (avastrovirus) and coronaviruses (coronavirus, turkey) have been isolated from diseased poults and are thought to cause the enteritis and increased susceptibility to bacterial infections. phenio_relaxed_subqs.owl UMLS:C0032897 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008300 biolink:NamedThing Prader-Willi syndrome Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems. phenio_relaxed_subqs.owl DOID:11983 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005575 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_759.81 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011218 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014243 biolink:NamedThing Schaaf-Yang syndrome phenio_relaxed_subqs.owl MONDO:0015785 biolink:NamedThing Prader-Willi syndrome due to translocation phenio_relaxed_subqs.owl MONDO:0015786 biolink:NamedThing Prader-Willi syndrome due to imprinting mutation phenio_relaxed_subqs.owl MONDO:0020298 biolink:NamedThing Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 phenio_relaxed_subqs.owl MONDO:0020301 biolink:NamedThing Prader-Willi syndrome due to paternal 15q11q13 deletion phenio_relaxed_subqs.owl NCIT:C75463 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:176270 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_89392001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:739 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0033027 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018881 biolink:NamedThing myelodysplastic syndrome A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001) phenio_relaxed_subqs.owl UMLS:C3463824 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050908 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007132 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_238.75 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007925 biolink:NamedThing chromosome 5q deletion syndrome A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001) phenio_relaxed_subqs.owl MONDO:0015692 biolink:NamedThing refractory anemia with excess blasts in transformation Refractory anemia with excess blasts in transformation (RAEB-T) is characterised by dysplastic features of the myeloid and usually erythroid progenitor cells in the bone marrow and an increased number of myeloblasts in the peripheral blood. The peripheral blood blast count ranges from 20% to 30%. RAEB-T used to be a subcategory of myelodysplastic syndromes in the past. Recently, the term has been eliminated from the WHO based classification of myelodysplastic syndromes. The reason is that the percentage of peripheral blood blasts required for the diagnosis of acute myeloid leukemia has been reduced to 20%. The elimination of the RAEB-T term by the WHO experts has created confusion and ongoing arguments. Currently, according to WHO classification, the vast majority of RAEB-T cases are best classified as acute leukemias (acute leukemias with multilineage dysplasia following myelodysplastic syndrome). A minority of cases are part of RAEB-2. phenio_relaxed_subqs.owl MONDO:0019157 biolink:NamedThing acquired idiopathic sideroblastic anemia Acquired idiopathic sideroblastic anaemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterised by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia. Acquired idiopathic sideroblastic anaemia is now more commonly referred to as refractory anaemia with ringed sideroblasts or the acronym RARS. phenio_relaxed_subqs.owl MONDO:0019453 biolink:NamedThing refractory cytopenia with multilineage dysplasia Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages. phenio_relaxed_subqs.owl MONDO:0044645 biolink:NamedThing familial monosomy 7 syndrome phenio_relaxed_subqs.owl MONDO:0044873 biolink:NamedThing childhood myelodysplastic syndrome An uncommon hematologic malignancy occurring during childhood. Many of the morphologic, immunophenotypic, and genetic changes seen in adult myelodysplastic syndromes are also observed in the childhood variants of the disease. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults. phenio_relaxed_subqs.owl NCIT:C3247 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614286 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_MDS biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_109995007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000198 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:52688 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0033300 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008310 biolink:NamedThing Hutchinson-Gilford progeria syndrome Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat). phenio_relaxed_subqs.owl UMLS:CN236401 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3911 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007467 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011371 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34951 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:176670 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238870004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:740 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0033375 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010911 biolink:NamedThing prolactin-producing pituitary gland adenoma Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men. phenio_relaxed_subqs.owl DOID:5394 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004508 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015175 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3342 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600634 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_134209002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000496 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2965 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0033680 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10611 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011504 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:226300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_22542007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:566175 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0033700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011512 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_186437007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001130 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0033741 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011529 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0025270 biolink:NamedThing toxoplasmosis, non-human animal Acquired infection of non-human animals by organisms of the genus toxoplasma. phenio_relaxed_subqs.owl UMLS:C0033770 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060889 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007479 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_756.71 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011535 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85033 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:100100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_5187006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2970 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0033806 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4184 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010758 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E20.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011547 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007078 biolink:NamedThing pseudohypoparathyroidism type 1A Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO). phenio_relaxed_subqs.owl MONDO:0008749 biolink:NamedThing pseudohypoparathyroidism type 2 Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response. phenio_relaxed_subqs.owl MONDO:0011301 biolink:NamedThing pseudohypoparathyroidism type 1B Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. phenio_relaxed_subqs.owl MONDO:0012911 biolink:NamedThing pseudohypoparathyroidism type 1C Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha). phenio_relaxed_subqs.owl MONDO:0012912 biolink:NamedThing pseudopseudohypoparathyroidism Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP). phenio_relaxed_subqs.owl NCIT:C99027 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_58976002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:97593 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0033835 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4183 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007860 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011556 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129722 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612463 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237659007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:665 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79445 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0033839 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005932 biolink:NamedThing pseudorabies A highly contagious herpesvirus infection affecting the central nervous system of swine, cattle, dogs, cats, rats, and other animals. phenio_relaxed_subqs.owl OBO:MESH_D011557 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007457 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0033847 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009925 biolink:NamedThing autosomal recessive inherited pseudoxanthoma elasticum An autosomal recessive form of PXE. phenio_relaxed_subqs.owl DOID:2738 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011561 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85036 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:264800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_402782006 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_72744008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:758 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0034013 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007446 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E30.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011629 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015791 biolink:NamedThing peripheral precocious puberty Precocious puberty caused by sex hormones. phenio_relaxed_subqs.owl MONDO:0018561 biolink:NamedThing precocious puberty in female A precocious puberty that involves the female organism. phenio_relaxed_subqs.owl NCIT:C79704 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_400179000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:95708 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0034040 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0044013 biolink:NamedThing puerperal disorder Disorders or diseases associated with puerperium, the six-to-eight-week period immediately after parturition in humans. phenio_relaxed_subqs.owl OBO:MESH_D011644 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018623 biolink:NamedThing postpartum psychosis Postpartum psychosis is a rare psychiatric emergency in which symptoms of high mood and racing thoughts (mania), depression, severe confusion, loss of inhibition, paranoia, hallucinations and delusions set in, beginning suddenly in the first two weeks after childbirth. The symptoms vary and can change quickly. phenio_relaxed_subqs.owl MONDO:0021742 biolink:NamedThing puerperal infection An infection occurring in puerperium, the period of 6-8 weeks after giving birth. phenio_relaxed_subqs.owl MONDO:0043226 biolink:NamedThing postpartum amenorrhea-galactorrhea syndrome phenio_relaxed_subqs.owl MONDO:0044014 biolink:NamedThing postpartum thyroiditis A transient autoimmune Inflammatory disorder of thyroid gland that occurs postpartum due to any partum problem. It is characterized by the presence of high titers of autoantibodies against thyroid peroxidase and thyroglobulin. Clinical signs include the triphasic thyroid hormone pattern: beginning with thyrotoxicosis, followed with hypothyroidism, then return to euthyroid state by 1 year postpartum phenio_relaxed_subqs.owl OBO:SCTID_362973001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0034049 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0025457 biolink:NamedThing pulmonary adenomatosis, ovine A contagious, neoplastic, pulmonary disease of sheep characterized by hyperplasia and hypertrophy of pneumocytes and epithelial cells of the lung. It is caused by jaagsiekte sheep retrovirus. phenio_relaxed_subqs.owl OBO:MESH_D011648 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0034068 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004802 biolink:NamedThing pulmonary eosinophilia A condition characterized by infiltration of the lung with eosinophils due to inflammation or other disease processes. Major eosinophilic lung diseases are the eosinophilic pneumonias caused by infections, allergens, or toxic agents. phenio_relaxed_subqs.owl DOID:9498 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_518.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011657 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019122 biolink:NamedThing idiopathic acute eosinophilic pneumonia Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection. phenio_relaxed_subqs.owl OBO:SCTID_367542003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0034103 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11121 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_K04.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_522.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011671 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_32620007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001139 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0034139 biolink:NamedThing phenio_relaxed_subqs.owl DOID:653 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011686 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017688 biolink:NamedThing disorder of glycolysis phenio_relaxed_subqs.owl MONDO:0043176 biolink:NamedThing phosphoribosylpyrophosphate synthetase deficiency phenio_relaxed_subqs.owl ORPHA:79224 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0034186 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006939 biolink:NamedThing pyelonephritis An inflammatory process affecting the kidney. The cause is most often bacterial, but may also be fungal in nature. Signs and symptoms may include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion. phenio_relaxed_subqs.owl DOID:11400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012020 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_590.80 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011704 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001110 biolink:NamedThing chronic pyelonephritis Persistent pyelonephritis. phenio_relaxed_subqs.owl MONDO:0003529 biolink:NamedThing acute pyelonephritis Sudden onset pyelonephritis. phenio_relaxed_subqs.owl NCIT:C34965 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_45816000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001141 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0034188 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007022 biolink:NamedThing xanthogranulomatous pyelonephritis Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli. phenio_relaxed_subqs.owl DOID:11401 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012021 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011705 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C123038 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_38898003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001244 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0034223 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1425 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35666 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_85884009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0034341 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009949 biolink:NamedThing pyruvate carboxylase deficiency disease Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients. phenio_relaxed_subqs.owl UMLS:C2931141 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203409 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3651 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007512 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015324 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018141 biolink:NamedThing pyruvate carboxylase deficiency, infantile form Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course. phenio_relaxed_subqs.owl MONDO:0018142 biolink:NamedThing pyruvate carboxylase deficiency, severe neonatal type Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy. phenio_relaxed_subqs.owl MONDO:0018143 biolink:NamedThing pyruvate carboxylase deficiency, benign type Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development. phenio_relaxed_subqs.owl NCIT:C85040 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:266150 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_87694001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001142 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0034362 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019186 biolink:NamedThing Q fever A bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness. phenio_relaxed_subqs.owl DOID:11100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007515 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A78 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_083.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011778 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34970 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_186788009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005224 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:781 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0034494 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019173 biolink:NamedThing rabies Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated. phenio_relaxed_subqs.owl DOID:11260 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007516 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A82 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_071 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011818 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C28182 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_14168008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:770 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0034686 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009557 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_026.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011906 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020532 biolink:NamedThing spirillary rat-bite fever Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia. phenio_relaxed_subqs.owl MONDO:0020533 biolink:NamedThing streptobacillary rat-bite fever Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats. phenio_relaxed_subqs.owl NCIT:C34971 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_1685005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001144 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:31205 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0034734 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_I73.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_443.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011928 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C116359 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:179600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_195295006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001145 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0034931 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011441 biolink:NamedThing complex regional pain syndrome type 1 Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb. phenio_relaxed_subqs.owl DOID:1811 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_337.20 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_733.7 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012019 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85042 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604335 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_50642008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001147 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99995 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0035012 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017376 biolink:NamedThing reactive arthritis Reactive arthritis (ReA) is an autoimmune disorder belonging to the group of seronegative spondyloarthropathies and is characterized by the classic triad of arthritis, urethritis and conjunctivitis. phenio_relaxed_subqs.owl UMLS:C0085435 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203069 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6196 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005693 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016918 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128332 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_129133005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007460 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:29207 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0035021 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13034 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A68 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_087.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012061 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001620 biolink:NamedThing louse-borne relapsing fever An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected lice; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated. phenio_relaxed_subqs.owl MONDO:0001621 biolink:NamedThing tick-borne relapsing fever An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected ticks; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated. phenio_relaxed_subqs.owl OBO:SCTID_420079008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:91547 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0035022 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13036 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A68.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_087.1 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34976 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_10301003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0035086 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006946 biolink:NamedThing renal osteodystrophy Abnormalities of bone mineral metabolism associated with chronic kidney disease. phenio_relaxed_subqs.owl DOID:13068 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007551 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_N25.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_588.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012080 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_16726004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001152 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0035112 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005939 biolink:NamedThing Reoviridae infectious disease Infections produced by reoviruses, general or unspecified. phenio_relaxed_subqs.owl OBO:MESH_D012088 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005194 biolink:NamedThing Rotavirus infection Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice. phenio_relaxed_subqs.owl EFO:0007464 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0035222 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0100130 biolink:NamedThing adult acute respiratory distress syndrome A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%. phenio_relaxed_subqs.owl DOID:11394 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012128 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_67782005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:70578 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0035235 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001577 biolink:NamedThing respiratory syncytial virus infectious disease Infection with the respiratory syncytial virus, an RNA virus of the genus Pneumovirus, in the family Paramyxoviridae, which is characterized by the formation of syncytia in tissue culture. It causes minor respiratory infection with rhinitis and cough in adults, but is capable of causing severe bronchitis and bronchopneumonia in young children. phenio_relaxed_subqs.owl DOID:1273 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018357 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0100286 biolink:NamedThing respiratory syncytial virus bronchiolitis Bronciolitis caused by infection with respiratory syncytial virus. phenio_relaxed_subqs.owl NCIT:C3354 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_55735004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001413 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0035288 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007559 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538362 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:312500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0035305 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008375 biolink:NamedThing retinal detachment An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision. phenio_relaxed_subqs.owl DOID:5327 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_361.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_362.40 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012163 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001539 biolink:NamedThing retinal perforation A usually small tearing of the retina occurring when the vitreous separates from the retina. It may lead to retinal detachment. Symptoms include flashes and floaters. phenio_relaxed_subqs.owl MONDO:0005464 biolink:NamedThing rhegmatogenous retinal detachment Retinal detachment secondary to retinal tear or break. phenio_relaxed_subqs.owl NCIT:C26874 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:180050 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:312530 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_42059000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005773 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0035321 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12514 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012167 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_232003005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0035372 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010726 biolink:NamedThing Rett syndrome Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system. phenio_relaxed_subqs.owl DOID:1206 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005696 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015518 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C75488 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:312750 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_68618008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:778 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0035400 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005942 biolink:NamedThing Reye syndrome An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use. phenio_relaxed_subqs.owl DOID:14525 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007570 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_331.81 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012202 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34983 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_74351001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007467 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3096 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0035435 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1575 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012216 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001332 biolink:NamedThing palindromic rheumatism A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results in no joint damage or symptoms. phenio_relaxed_subqs.owl MONDO:0003627 biolink:NamedThing rheumatic pulmonary valve disease A rheumatologic disorder that involves the pulmonary valve. phenio_relaxed_subqs.owl MONDO:0004670 biolink:NamedThing lupus erythematosus An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus. phenio_relaxed_subqs.owl MONDO:0006018 biolink:NamedThing Wissler syndrome A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate. phenio_relaxed_subqs.owl MONDO:0006906 biolink:NamedThing pigmented villonodular synovitis Pigmented villonodular synovitis (PVNS) is a rare benign proliferative disorder of the synovial membrane primarily affecting young adults (with a peak age of onset in the second to fourth decade of life) characterized by proliferative, locally invasive tumor-like lesions, usually involving a single joint, tendon sheath or bursae (most commonly the joints of the knee and hip and rarely others such as the ankle, shoulder and temporomandibular joints). It presents with pain and limitation of motion along with swelling, heat and tenderness over the involved joint, eventually leading to arthritic degeneration and significant locomotor deficit, if left untreated. PVNS can recur in patients even after treatment. phenio_relaxed_subqs.owl MONDO:0008828 biolink:NamedThing camptodactyly-arthropathy-coxa vara-pericarditis syndrome Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis. phenio_relaxed_subqs.owl MONDO:0011429 biolink:NamedThing juvenile idiopathic arthritis Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases). phenio_relaxed_subqs.owl MONDO:0011959 biolink:NamedThing sweet syndrome Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis. phenio_relaxed_subqs.owl MONDO:0016666 biolink:NamedThing unexplained long-lasting fever/inflammatory syndrome phenio_relaxed_subqs.owl MONDO:0016822 biolink:NamedThing myalgia-eosinophilia syndrome associated with tryptophan A rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities. phenio_relaxed_subqs.owl MONDO:0017767 biolink:NamedThing rheumatic fever A post-bacterial multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis. phenio_relaxed_subqs.owl MONDO:0018015 biolink:NamedThing intermittent hydrarthrosis phenio_relaxed_subqs.owl MONDO:0018783 biolink:NamedThing fibroblastic rheumatism phenio_relaxed_subqs.owl MONDO:0019199 biolink:NamedThing interstitial granulomatous dermatitis with arthritis Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes. phenio_relaxed_subqs.owl MONDO:0019340 biolink:NamedThing scleroderma Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc). phenio_relaxed_subqs.owl MONDO:0019409 biolink:NamedThing idiopathic juvenile osteoporosis Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. phenio_relaxed_subqs.owl MONDO:0019751 biolink:NamedThing autoinflammatory syndrome A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease. phenio_relaxed_subqs.owl MONDO:0020477 biolink:NamedThing progeria-associated arthropathy phenio_relaxed_subqs.owl MONDO:0033856 biolink:NamedThing LAMA5-related multisystemic syndrome A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. This is an n-of-1 use case where only one patient or family has been described with this disorder. phenio_relaxed_subqs.owl MONDO:0042967 biolink:NamedThing rheumatic disease of mitral valve A rheumatologic disorder that involves the mitral valve. phenio_relaxed_subqs.owl NCIT:C27204 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_396332003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005755 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0035436 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1586 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005699 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_I00-I02 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012213 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34984 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_58718002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001160 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3099 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0035455 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4483 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_J30 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012220 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006004 biolink:NamedThing vasomotor rhinitis Inflammation in the nasal cavity mucosa that results from the abnormal regulation of the blood flow in the nose. It may be caused by temperature fluctuations, air pollution, strong odors, and tobacco smoke. It results in chronic nasal congestion, sneezing, and running nose. phenio_relaxed_subqs.owl MONDO:0011786 biolink:NamedThing allergic rhinitis Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life. phenio_relaxed_subqs.owl NCIT:C34986 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_70076002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0008521 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0035457 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024332 biolink:NamedThing perennial allergic rhinitis Allergic rhinitis caused by indoor allergens and lasting year round. phenio_relaxed_subqs.owl NCIT:C92189 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_446096008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0035460 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4730 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_J30.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012223 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34988 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_8229003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007533 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0035468 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005945 biolink:NamedThing rhinoscleroma A granulomatous disease caused by klebsiella rhinoscleromatis infection. Despite its name, this disease is not limited to the nose and nasopharynx but may affect any part of the respiratory tract, sometimes with extension to the lip and the skin. phenio_relaxed_subqs.owl DOID:11336 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_040.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012226 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_72409005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007470 biolink:NamedThing phenio_relaxed_subqs.owl NCBITaxon:7227 biolink:NamedThing Drosophila melanogaster phenio_relaxed_subqs.owl UMLS:C0035469 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005946 biolink:NamedThing rhinosporidiosis Chronic, localized granulomatous infection of mucocutaneous tissues, especially the nose, and characterized by hyperplasia and the development of polyps. It is found in humans and other animals and is caused by the mesomycetozoean organism rhinosporidium seeberi. phenio_relaxed_subqs.owl DOID:2409 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B48.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_117.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012227 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_18140003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007471 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0035585 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A75-A79 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_083.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012282 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006922 biolink:NamedThing Anaplasmataceae infectious disease Infections with bacteria of the family anaplasmataceae. phenio_relaxed_subqs.owl MONDO:0006927 biolink:NamedThing Rickettsiaceae infectious disease Infections with bacteria of the family rickettsiaceae. phenio_relaxed_subqs.owl NCIT:C34991 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_37246009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001162 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:102021 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0035597 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019360 biolink:NamedThing rickettsialpox phenio_relaxed_subqs.owl DOID:11103 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_083.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_75096007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:83312 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0035613 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1328 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A92.4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012295 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128419 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_402917003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:319251 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0035637 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012301 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0035639 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0700091 biolink:NamedThing ring chromosome disorder Chromosomal anomaly consisting of the presence of a ring chromosome. A ring chromosome is a chromosome whose arms have fused together to form a ring, often with the loss of the ends of the chromosome. phenio_relaxed_subqs.owl OBO:MESH_D012303 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014708 biolink:NamedThing ring chromosome 14 Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears. phenio_relaxed_subqs.owl MONDO:0015430 biolink:NamedThing ring chromosome 1 Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. phenio_relaxed_subqs.owl MONDO:0015431 biolink:NamedThing ring chromosome 10 Ring chromosome 10 syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described. The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases. phenio_relaxed_subqs.owl MONDO:0015432 biolink:NamedThing ring chromosome 12 Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported. phenio_relaxed_subqs.owl MONDO:0015433 biolink:NamedThing ring chromosome 17 Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region. phenio_relaxed_subqs.owl MONDO:0015434 biolink:NamedThing ring chromosome 18 Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics. phenio_relaxed_subqs.owl MONDO:0015435 biolink:NamedThing ring chromosome 19 Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported. phenio_relaxed_subqs.owl MONDO:0015436 biolink:NamedThing ring chromosome 20 Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioural problems. In rare cases, brain, kidney or heart malformations may be present. phenio_relaxed_subqs.owl MONDO:0015437 biolink:NamedThing ring chromosome 21 Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals. phenio_relaxed_subqs.owl MONDO:0015438 biolink:NamedThing ring chromosome 22 Ring chromosome 22 is a rare condition caused by having an abnormal chromosome 22 that forms a ring. In this chromosome abnormality,a segment on the short (p) arm and a segment on the long (q) arm of 22 are missing. The amount of material lost varies from person to person. The remaining ends of chromosome 22 have joined together to make a ring shape. Chromosome 22 is an acrocentric chromosome, meaning that the centromere is near one end, creating a very small short (p) arm that does not contain genes that are relevant to development. Thus, only the lost genes on the long (q) arm matter. Knowing the breakpoint in the long arm is likely more helpful. Most cases are sporadic (happen by chance) and occur in people with no history of the condition in their family. phenio_relaxed_subqs.owl MONDO:0015439 biolink:NamedThing ring chromosome 4 Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies. phenio_relaxed_subqs.owl MONDO:0015440 biolink:NamedThing ring chromosome 6 Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported. phenio_relaxed_subqs.owl MONDO:0015441 biolink:NamedThing ring chromosome 7 Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis). phenio_relaxed_subqs.owl MONDO:0015443 biolink:NamedThing chromosome 8-derived supernumerary ring/marker Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome. phenio_relaxed_subqs.owl MONDO:0016654 biolink:NamedThing ring chromosome 5 Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges). phenio_relaxed_subqs.owl MONDO:0016853 biolink:NamedThing ring chromosome Y Ring chromosome Y is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed. phenio_relaxed_subqs.owl MONDO:0019903 biolink:NamedThing ring chromosome 2 Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism). phenio_relaxed_subqs.owl MONDO:0019904 biolink:NamedThing ring chromosome 3 Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias. phenio_relaxed_subqs.owl MONDO:0019905 biolink:NamedThing ring chromosome 9 Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies. phenio_relaxed_subqs.owl MONDO:0019906 biolink:NamedThing ring chromosome 11 Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported. phenio_relaxed_subqs.owl MONDO:0019907 biolink:NamedThing ring chromosome 13 Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia. phenio_relaxed_subqs.owl MONDO:0019908 biolink:NamedThing ring chromosome 15 Ring chromosome 15 is a chromosome abnormality that affects growth, learning, and speech. People with ring chromosome 15 often have growth delays before and after birth, resulting in short stature; varying degrees of intellectual disability ; low muscle tone (hypotonia); craniofacial malformations; and limb abnormalities. Other symptoms might include congenital heart defects, kidney problems, congenital dislocation of the hips, and cafe-au-lait spots. Ring chromosome 15 is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together. The features of ring chromosome 15 appear to result from the loss (deletion) of genetic material from the long (q) arm of chromosome 15. Ring chromosome 15 is usually caused by spontaneous (de novo) errors very early in embryonic development. In rare cases, it is passed through families, either from a parent who also has a ring chromosome 15, or from a parent who has a balanced translocation. Treatment for ring chromosome 15 is focused on addressing the symptoms present in each individual and may require a team of medical specialists. phenio_relaxed_subqs.owl MONDO:0019909 biolink:NamedThing ring chromosome 16 Ring chromosome 16 is characterized bypostnatal growthdeficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.To date, less than 10 cases have been reported in the medical literature. phenio_relaxed_subqs.owl MONDO:0019926 biolink:NamedThing X small rings X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures. phenio_relaxed_subqs.owl NCIT:C3360 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0035793 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019359 biolink:NamedThing Rocky mountain spotted fever Rocky Mountain spotted fever refers to an infection caused by the bacterium Rickettsia rickettsia. This particular bacterium is carried by certain species of ticks and spread to humans through the bites of infected ticks. Signs and symptoms of the condition generally develop approximately 2 to 14 days following the tick bite and may include fever, rash, headache, muscle pain, chills, and/or confusion. Some affected people may also experience diarrhea, nausea, vomiting, light sensitivity, hallucinations, and/or excessive thirst. Most cases occur in the spring and summer and are found in children. Risk factors for developing the conditioninclude recent hiking or exposure to ticks in an area where the disease is known to occur. Rocky Mountain spotted fever is typically treated with antibiotics (such as doxycycline or tetracycline). phenio_relaxed_subqs.owl DOID:0050052 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007585 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012373 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128410 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_186772009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:83311 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0035801 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012376 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0025487 biolink:NamedThing murine acquired immunodeficiency syndrome Acquired defect of cellular immunity that occurs in mice infected with mouse leukemia viruses (Mulv). The syndrome shows striking similarities with human aids and is characterized by lymphadenopathy, profound immunosuppression, enhanced susceptibility to opportunistic infections, and B-cell lymphomas. phenio_relaxed_subqs.owl UMLS:C0035828 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1141890 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008222 biolink:NamedThing Andersen-Tawil syndrome Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly. phenio_relaxed_subqs.owl MONDO:0010958 biolink:NamedThing cardiac arrhythmia, ankyrin-B-related phenio_relaxed_subqs.owl MONDO:0010979 biolink:NamedThing Timothy syndrome Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. phenio_relaxed_subqs.owl MONDO:0011377 biolink:NamedThing long QT syndrome 3 An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death. phenio_relaxed_subqs.owl MONDO:0012736 biolink:NamedThing long QT syndrome 9 Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene. phenio_relaxed_subqs.owl MONDO:0012737 biolink:NamedThing long QT syndrome 10 Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene. phenio_relaxed_subqs.owl MONDO:0012738 biolink:NamedThing long QT syndrome 11 Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene. phenio_relaxed_subqs.owl MONDO:0013062 biolink:NamedThing long QT syndrome 12 Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene. phenio_relaxed_subqs.owl MONDO:0013279 biolink:NamedThing long QT syndrome 13 Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene. phenio_relaxed_subqs.owl MONDO:0013367 biolink:NamedThing long QT syndrome 2 An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death. phenio_relaxed_subqs.owl MONDO:0013370 biolink:NamedThing long QT syndrome 6 Any long QT syndrome in which the cause of the disease is a mutation in the KCNE2 gene. phenio_relaxed_subqs.owl MONDO:0013372 biolink:NamedThing long QT syndrome 5 Any long QT syndrome in which the cause of the disease is a mutation in the KCNE1 gene. phenio_relaxed_subqs.owl MONDO:0014548 biolink:NamedThing long QT syndrome 14 Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene. phenio_relaxed_subqs.owl MONDO:0014550 biolink:NamedThing long QT syndrome 15 Any long QT syndrome in which the cause of the disease is a mutation in the CALM2 gene. phenio_relaxed_subqs.owl MONDO:0032756 biolink:NamedThing long qt syndrome 8 phenio_relaxed_subqs.owl MONDO:0032915 biolink:NamedThing long QT syndrome 16 phenio_relaxed_subqs.owl MONDO:0100316 biolink:NamedThing long QT syndrome 1 phenio_relaxed_subqs.owl OBO:OMIMPS_192500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_442917000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101016 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:768 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0035865 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000344 biolink:NamedThing Ross river fever A disease caused by infection with Ross River virus. phenio_relaxed_subqs.owl DOID:0050518 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_602001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0035869 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_18624000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0002622 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0035920 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004656 biolink:NamedThing rubella A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body. phenio_relaxed_subqs.owl DOID:8781 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004742 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B06 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012409 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017361 biolink:NamedThing congenital rubella syndrome An infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects. phenio_relaxed_subqs.owl NCIT:C85051 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_36653000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1002026 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0035921 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004744 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_P35.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_771.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012410 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34992 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_1857005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007218 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:290 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0035934 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019188 biolink:NamedThing Rubinstein-Taybi syndrome A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics. phenio_relaxed_subqs.owl DOID:1933 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007593 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012415 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008393 biolink:NamedThing Rubinstein-Taybi syndrome due to CREBBP mutations Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene. phenio_relaxed_subqs.owl MONDO:0013364 biolink:NamedThing Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene. phenio_relaxed_subqs.owl MONDO:0022752 biolink:NamedThing chromosome 16p13.3 deletion syndrome phenio_relaxed_subqs.owl NCIT:C75466 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_180849 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_45582004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:783 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0036117 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000827 biolink:NamedThing salmonellosis Infections with bacteria of the genus salmonella. phenio_relaxed_subqs.owl UMLS:CN205993 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060859 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_003.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012480 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005619 biolink:NamedThing typhoid fever A bacterial infectious disorder contracted by consumption of food or drink contaminated with Salmonella typhi. This disorder is common in developing countries and can be treated with antibiotics. phenio_relaxed_subqs.owl MONDO:0005950 biolink:NamedThing Salmonella gastroenteritis Poisoning caused by ingestion of food harboring species of salmonella. Conditions of raising, shipping, slaughtering, and marketing of domestic animals contribute to the spread of this bacterium in the food supply. phenio_relaxed_subqs.owl MONDO:0017944 biolink:NamedThing invasive non-typhoidal salmonellosis Invasive non-typhoidal salmonellosis (iNTS) is a rare bacterial infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachnypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomit, abdominal pain) are not common. Occasionally, organ absseses, septic shock and meningitis may be observed. phenio_relaxed_subqs.owl MONDO:8000004 biolink:NamedThing salmonella discitis Discitis caused by infection with Salmonella. phenio_relaxed_subqs.owl OBO:SCTID_302231008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001418 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:795 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0036118 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012481 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0036133 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10972 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_614.2 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001171 biolink:NamedThing acute salpingo-oophoritis Acute form of salpingo-oophoritis. phenio_relaxed_subqs.owl MONDO:0001474 biolink:NamedThing chronic salpingo-oophoritis Chronic form of salpingo-oophoritis. phenio_relaxed_subqs.owl OBO:SCTID_46536000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0036161 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3323 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002521 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007604 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E75.01 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012497 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017721 biolink:NamedThing Sandhoff disease, infantile form phenio_relaxed_subqs.owl MONDO:0017722 biolink:NamedThing Sandhoff disease, juvenile form phenio_relaxed_subqs.owl MONDO:0017723 biolink:NamedThing Sandhoff disease, adult form A Sandhoff disease that occurs in an adult. phenio_relaxed_subqs.owl NCIT:C85052 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:268800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_23849003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:796 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0036202 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019338 biolink:NamedThing sarcoidosis Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs. phenio_relaxed_subqs.owl DOID:11335 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012507 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001706 biolink:NamedThing cerebral sarcoidosis Sarcoidosis of the cerebrum. phenio_relaxed_subqs.owl MONDO:0001707 biolink:NamedThing cardiac sarcoidosis Sarcoidosis affecting the tissues of the heart. phenio_relaxed_subqs.owl MONDO:0001708 biolink:NamedThing pulmonary sarcoidosis Sarcoidosis affecting the lung parenchyma. It is characterized by the presence of non-necrotizing granulomas in the lung tissues. It is manifested with dyspnea, cough, fever, night sweats, fatigue, and weight loss. phenio_relaxed_subqs.owl MONDO:0001709 biolink:NamedThing hypercalcemic sarcoidosis Sarcoidosis with a complication of hypercalcemia. phenio_relaxed_subqs.owl MONDO:0006611 biolink:NamedThing skin sarcoidosis Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation. phenio_relaxed_subqs.owl MONDO:0007011 biolink:NamedThing uveoparotid fever A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea. phenio_relaxed_subqs.owl MONDO:0008523 biolink:NamedThing Blau syndrome Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease. phenio_relaxed_subqs.owl MONDO:0012889 biolink:NamedThing sarcoidosis, susceptibility to, 3 phenio_relaxed_subqs.owl MONDO:0020666 biolink:NamedThing Löfgren syndrome A sarcoidosis characterized by the triad of erythema nodosum, bilateral hilar lymphadenopathy on chest radiograph, and joint pain. phenio_relaxed_subqs.owl MONDO:0045047 biolink:NamedThing neurosarcoidosis A sarcoidosis that involves the nervous system. phenio_relaxed_subqs.owl NCIT:C34995 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_31541009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:797 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0036203 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13402 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_D86.3 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34996 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_55941000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000767 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0036205 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13406 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017565 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34997 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_24369008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0036231 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9640 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_136.5 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012523 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_88905005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007476 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:54368 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0036262 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8295 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B86 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_133.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012532 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34998 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_128869009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0036285 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005952 biolink:NamedThing scarlet fever A streptococcal infection, mainly occurring among children, that is characterized by a red skin rash, sore throat, and fever. phenio_relaxed_subqs.owl DOID:8596 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A38 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_034.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012541 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C94575 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_30242009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007477 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0036323 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1395 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009687 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_120.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012552 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001260 biolink:NamedThing cercarial dermatitis An unusual presentation of schistosomiasis characterized by a pruritic papular rash in the perigenital or periumbilical area due to an allergic reaction to schistosoma eggs deposited in the skin. phenio_relaxed_subqs.owl MONDO:0005874 biolink:NamedThing neuroschistosomiasis Schistosomiasis of the brain, spinal cord, or meninges caused by infections with trematodes of the genus schistosoma (primarily schistosoma japonicum; schistosoma mansoni; and schistosoma haematobium in humans). S. japonicum infections of the nervous system may cause an acute meningoencephalitis or a chronic encephalopathy. S. mansoni and S. haematobium nervous system infections are associated with acute transverse myelitis involving the lower portions of the spinal cord. (From Joynt, Clinical Neurology, 1998, Ch27, pp61-2) phenio_relaxed_subqs.owl MONDO:0006001 biolink:NamedThing urinary schistosomiasis A bladder infection that occurs as a manifetation of a systemic infection with one or more species of the parasitic worms of the Schistosoma type; this can progress to bladder cancer in time. phenio_relaxed_subqs.owl MONDO:0008412 biolink:NamedThing intestinal schistosomiasis An intestinal infection that is caused by Schistosoma japonicum. phenio_relaxed_subqs.owl MONDO:0044344 biolink:NamedThing Schistosoma japonicum infectious disease An infection that is caused by Schistosoma japonicum. phenio_relaxed_subqs.owl MONDO:0044345 biolink:NamedThing Schistosoma mansoni infectious disease An infection that is caused by Schistosoma mansoni. phenio_relaxed_subqs.owl MONDO:0044351 biolink:NamedThing Schistosoma intercalatum infectious disease An disease or disorder caused by infection with Schistosoma intercalatum. phenio_relaxed_subqs.owl NCIT:C35000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_10087007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001475 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1247 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0036391 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009717 biolink:NamedThing Schwartz-Jampel syndrome A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia). phenio_relaxed_subqs.owl OBO:GARD_0000250 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011108 biolink:NamedThing Stüve-Wiedemann syndrome A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality. phenio_relaxed_subqs.owl MONDO:0100435 biolink:NamedThing Schwartz-Jampel syndrome type 1 phenio_relaxed_subqs.owl NCIT:C35008 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_29145002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0036400 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015987 biolink:NamedThing scimitar syndrome Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt. phenio_relaxed_subqs.owl OBO:MESH_D012587 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85056 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_39905002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:185 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0036413 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006606 biolink:NamedThing scleredema adultorum A usually benign and self-limited skin disorder of unknown etiology, characterized by induration of the skin. It may be associated with infection, diabetes mellitus, and hematologic malignancies. Morphologically, there is deposition of mucin in the dermis. phenio_relaxed_subqs.owl DOID:3140 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005975 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012592 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85057 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_95323007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000762 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:352763 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0036420 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019562 biolink:NamedThing localized scleroderma Localized scleroderma is the skin localized form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques or strips. phenio_relaxed_subqs.owl DOID:8472 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007058 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_701.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012594 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0043294 biolink:NamedThing linear scleroderma A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area. phenio_relaxed_subqs.owl NCIT:C72069 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_201048007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90289 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0036472 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019365 biolink:NamedThing scrub typhus Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious. phenio_relaxed_subqs.owl DOID:13371 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_081.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012612 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_271425001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007480 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:83317 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0036474 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009412 biolink:NamedThing scurvy Scurvy is a condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the 'recommended daily intake' of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur. phenio_relaxed_subqs.owl DOID:13724 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010406 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012614 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35010 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:240400 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001169 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0036489 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010017 biolink:NamedThing sea-blue histiocyte syndrome A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly. phenio_relaxed_subqs.owl DOID:4423 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008241 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012618 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85062 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:269600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_37821003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001170 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:158029 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0036689 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021783 biolink:NamedThing streptococcal sore throat Inflammation of the throat due to Streptococcus pyogenes. phenio_relaxed_subqs.owl NCIT:C116003 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_43878008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1002024 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0036850 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1079 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012719 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_4414005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007482 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0036916 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021681 biolink:NamedThing sexually transmitted disease A Disease due to or propagated by sexual contact. phenio_relaxed_subqs.owl OBO:ICD10CM_A50-A64 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_099.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012749 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005993 biolink:NamedThing Trichomonas vaginitis urogenital infection A sexually transmitted parasitic infection caused by Trichomonas vaginalis. Symptoms include vaginal discharge, vaginal odor, vaginal itching, and discomfort during intercourse. phenio_relaxed_subqs.owl MONDO:0021682 biolink:NamedThing viral sexually transmitted disease Viral diseases which are potentially transmitted or propagated by sexual conduct. phenio_relaxed_subqs.owl NCIT:C3365 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_8098009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0036917 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015231 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007000 biolink:NamedThing Treponema infectious disease An disease caused by infection with Treponema. phenio_relaxed_subqs.owl EFO:0003955 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0036918 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015229 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005647 biolink:NamedThing anogenital human papillomavirus infection A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia. phenio_relaxed_subqs.owl UMLS:C0036946 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012757 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003280 biolink:NamedThing swayback Congenital locomotor ataxia of lambs, thought to be associated with copper deficiency. It is characterized clinically by progressive incoordination of the hind limbs and pathologically by disruption of neuron and myelin development in the central nervous system. It is caused by a deficiency of metabolizable copper in the ewe during the last half of her pregnancy. (Dorland, 28th ed; Stedman, 26th ed) phenio_relaxed_subqs.owl UMLS:C0036969 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012766 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007449 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0036996 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015461 biolink:NamedThing short rib-polydactyly syndrome Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial). phenio_relaxed_subqs.owl OBO:MESH_D012779 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018342 biolink:NamedThing Joubert syndrome with Jeune asphyxiating thoracic dystrophy Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes. phenio_relaxed_subqs.owl MONDO:0018770 biolink:NamedThing Jeune syndrome Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. phenio_relaxed_subqs.owl MONDO:0019662 biolink:NamedThing short rib-polydactyly syndrome, Majewski type phenio_relaxed_subqs.owl MONDO:0019664 biolink:NamedThing short rib-polydactyly syndrome, Verma-Naumoff type Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome, characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, anormal clocal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period. phenio_relaxed_subqs.owl NCIT:C85065 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_205484001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1505 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0037018 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002783 biolink:NamedThing Shwartzman phenomenon Hemorrhagic necrosis that was first demonstrated in rabbits with a two-step reaction, an initial local (intradermal) or general (intravenous) injection of a priming endotoxin (endotoxins) followed by a second intravenous endotoxin injection (provoking agent) 24 h later. The acute inflammation damages the small blood vessels. The following intravascular coagulation leads to capillary and venous thrombosis and necrosis. Shwartzman phenomenon can also occur in other species with a single injection of a provoking agent, and during infections or pregnancy. Its susceptibility depends on the status of immune system, coagulation, fibrinolysis, and blood flow. phenio_relaxed_subqs.owl DOID:3825 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007636 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012790 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0037019 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007803 biolink:NamedThing multiple system atrophy Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years. phenio_relaxed_subqs.owl UMLS:C0393571 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4752 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007079 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D019578 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003122 biolink:NamedThing striatonigral degeneration A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements. phenio_relaxed_subqs.owl MONDO:0016418 biolink:NamedThing multiple system atrophy, cerebellar type Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria). phenio_relaxed_subqs.owl MONDO:0018608 biolink:NamedThing pure autonomic failure Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension. phenio_relaxed_subqs.owl MONDO:0020352 biolink:NamedThing multiple system atrophy, parkinsonian type Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability). phenio_relaxed_subqs.owl NCIT:C84909 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001050 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:102 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0037118 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021804 biolink:NamedThing silicotuberculosis Tuberculosis caused by the infection of Mycobacterium tuberculosis in patients with silicosis (that is caused by inhalation of silica dust particles). The risk of a patient with silicosis developing pulmonary tuberculosis and extra-pulmonary tuberculosis is higher than in healthy population. phenio_relaxed_subqs.owl OBO:MESH_D012830 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_233763009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0037199 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050127 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012852 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005964 biolink:NamedThing sphenoid sinusitis An acute or chronic inflammatory process affecting the mucous membrane of the sphenoid sinus. phenio_relaxed_subqs.owl MONDO:0006031 biolink:NamedThing chronic rhinosinusitis Chronic form of sinusitis. phenio_relaxed_subqs.owl NCIT:C35024 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_36971009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007486 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0037205 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017850 biolink:NamedThing sirenomelia Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth. phenio_relaxed_subqs.owl OBO:GARD_0007652 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C118455 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_67254002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3169 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0037231 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14501 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007654 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016111 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85070 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:270200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111303009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007031 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:816 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0037278 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021201 biolink:NamedThing skin infection An inflammatory process affecting the skin, caused by bacteria, viruses, parasites, or fungi. Examples of bacterial infection include carbuncles, furuncles, impetigo, erysipelas, and abscesses. Examples of viral infection include shingles, warts, molluscum contagiosum, and pityriasis rosea. Examples of parasitic infection include scabies and lice. Examples of fungal infection include athlete's foot, yeast infection, and ringworm. phenio_relaxed_subqs.owl MONDO:0004852 biolink:NamedThing gonococcal keratitis phenio_relaxed_subqs.owl MONDO:0005982 biolink:NamedThing tinea infection A skin infection caused by a fungus. phenio_relaxed_subqs.owl MONDO:0021033 biolink:NamedThing herpes zoster dermatitis Painful, localized rash caused by reactivation of latent varicella zoster virus residing in nerve cell bodies, with resulting infection of the skin in the region supplied by the affected nerve. phenio_relaxed_subqs.owl MONDO:0021932 biolink:NamedThing infection by Trypanosoma gambiense Trypanosomiasis caused by infection by Trypanosoma brucei gambiense. phenio_relaxed_subqs.owl MONDO:0024283 biolink:NamedThing Demodex folliculitis A demodicidosis that involves the hair follicle. phenio_relaxed_subqs.owl NCIT:C35025 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_19824006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0037280 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024610 biolink:NamedThing parasitic skin disorder Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites. phenio_relaxed_subqs.owl OBO:MESH_D012876 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024284 biolink:NamedThing demodicidosis of sebaceous gland A demodicidosis that involves the sebaceous gland. phenio_relaxed_subqs.owl UMLS:C0037354 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004651 biolink:NamedThing smallpox A condition that is caused by infection with Variola, and that is characterized by small, raised bumps. phenio_relaxed_subqs.owl DOID:8736 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007444 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B03 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_050.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012899 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000338 biolink:NamedThing variola major infectious disease phenio_relaxed_subqs.owl NCIT:C35027 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_67924001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0037661 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006976 biolink:NamedThing somatostatinoma A rare, usually malignant neuroendocrine tumor arizing from delta cells. This neoplasm produces large amounts of somatostatin, which may result in a syndrome characterized by diarrhea, steatorrhea, weight loss, and gastric hyposecretion. Sixty percent are found in the pancreas and 40% in the duodenum or jejunum. The peak incidence occurs between 40 and 60 years of age; women are affected more than men by 2:1. phenio_relaxed_subqs.owl DOID:4430 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013005 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3379 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_253006001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001187 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:97283 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0037753 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005963 biolink:NamedThing sparganosis A condition resulting from infection with the second stage larvae of the parasite Spirometra. phenio_relaxed_subqs.owl DOID:10080 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B70.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_123.5 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013031 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35030 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_31659000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007488 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0037769 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018097 biolink:NamedThing West syndrome West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development. phenio_relaxed_subqs.owl DOID:0050562 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007887 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_345.60 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010396 biolink:NamedThing developmental and epileptic encephalopathy, 2 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene. phenio_relaxed_subqs.owl MONDO:0010632 biolink:NamedThing developmental and epileptic encephalopathy, 1 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARX gene. phenio_relaxed_subqs.owl MONDO:0013277 biolink:NamedThing developmental and epileptic encephalopathy, 5 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene. phenio_relaxed_subqs.owl MONDO:0013389 biolink:NamedThing developmental and epileptic encephalopathy, 12 An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion. phenio_relaxed_subqs.owl MONDO:0014003 biolink:NamedThing developmental and epileptic encephalopathy, 15 phenio_relaxed_subqs.owl MONDO:0014505 biolink:NamedThing developmental and epileptic encephalopathy, 27 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene. phenio_relaxed_subqs.owl MONDO:0014895 biolink:NamedThing developmental and epileptic encephalopathy, 40 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene. phenio_relaxed_subqs.owl NCIT:C84788 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_28055006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3451 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0037856 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11996 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_608.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_608.20 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013086 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C26885 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:187400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_81996005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0037886 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10794 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015524 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001624 biolink:NamedThing acute sphenoidal sinusitis Acute form of sphenoid sinusitis. phenio_relaxed_subqs.owl NCIT:C35031 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_13266007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007489 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0037899 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019255 biolink:NamedThing sphingolipidosis An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. phenio_relaxed_subqs.owl DOID:1927 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007672 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013106 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009218 biolink:NamedThing Farber lipogranulomatosis A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement. phenio_relaxed_subqs.owl MONDO:0010088 biolink:NamedThing mucosulfatidosis Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus. phenio_relaxed_subqs.owl MONDO:0012719 biolink:NamedThing encephalopathy due to prosaposin deficiency Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses. phenio_relaxed_subqs.owl MONDO:0018129 biolink:NamedThing autosomal recessive cerebellar ataxia with late-onset spasticity Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated. phenio_relaxed_subqs.owl NCIT:C117254 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238028008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79225 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0037974 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007682 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013145 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0038016 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6682 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013168 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0023510 biolink:NamedThing Jaffer-Beighton syndrome phenio_relaxed_subqs.owl NCIT:C35033 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:184200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_274152003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007493 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0038034 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005968 biolink:NamedThing sporotrichosis The commonest and least serious of the deep mycoses, characterized by nodular lesions of the cutaneous and subcutaneous tissues. It is caused by inhalation of contaminated dust or by infection of a wound. phenio_relaxed_subqs.owl DOID:14484 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007692 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B42 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_117.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013174 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0042484 biolink:NamedThing disseminated sporotrichosis phenio_relaxed_subqs.owl OBO:SCTID_42094007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007494 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:826 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0038041 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001195 biolink:NamedThing spotted fever A type of tick-borne disease which presents on the skin caused by bacteria of the genus Rickettsia. phenio_relaxed_subqs.owl DOID:11104 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004998 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A77 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_082.0 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000227 biolink:NamedThing African tick-bite fever phenio_relaxed_subqs.owl MONDO:0000231 biolink:NamedThing Far eastern spotted fever phenio_relaxed_subqs.owl MONDO:0000232 biolink:NamedThing Flinders island spotted fever A spotted fever that has material basis in Rickettsia honei, which is transmitted by cayenne ticks (Amblyomma cajennense). The infection has symptom mild spotted fever, has symptom eschar and has symptom adenopathy. phenio_relaxed_subqs.owl MONDO:0000233 biolink:NamedThing Japanese spotted fever A spotted fever that has material basis in Rickettsia japonica, which is transmitted by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has symptom fever, has symptom eschars, has symptom regional adenopathy, and has symptom rash on extremities. phenio_relaxed_subqs.owl MONDO:0000234 biolink:NamedThing Rickettsia parkeri spotted fever A spotted fever that has material basis in Rickettsia parkeri, which is transmitted by Gulf Coast tick (Amblyomma maculatum). The infection has symptom fever, has symptom headache, has symptom eschar, and has symptom rash. phenio_relaxed_subqs.owl MONDO:0000331 biolink:NamedThing Rickettsia helvetica spotted fever A disease caused by infection with Rickettsia helvetica. phenio_relaxed_subqs.owl MONDO:0001118 biolink:NamedThing Queensland tick typhus A spotted fever that has material basis in Rickettsia australis, which is transmitted by ticks (Ixodes holocyclus). The infection has symptom fever, has symptom headache, has symptom myalgia, has symptom maculopapular rash, and has symptom lymphadenopathy. phenio_relaxed_subqs.owl MONDO:0001154 biolink:NamedThing Siberian tick typhus A spotted fever that has material basis in Rickettsia sibirica, which is transmitted by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has symptom fever, has symptom eschar, has symptom regional adenopathy, and has symptom maculopapular rash. phenio_relaxed_subqs.owl MONDO:0005677 biolink:NamedThing Rickettsia conorii infectious disease phenio_relaxed_subqs.owl MONDO:0019364 biolink:NamedThing pseudotyphus of California Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, ocasionally, eschar. lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise. phenio_relaxed_subqs.owl OBO:SCTID_186771002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:102022 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0038159 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005971 biolink:NamedThing staphyloenterotoxemia Food poisoning that is caused by Staphylococcal infection. phenio_relaxed_subqs.owl DOID:96 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009559 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_005.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013202 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35037 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_84622004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007497 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0038165 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018181 biolink:NamedThing staphylococcal scalded skin syndrome A blistering skin disorder caused by exfoliative toxins produced by Staphylococcus aureus infection. The toxins cause the formation of bullae and diffuse skin desquamation. The lesions may be localized or generalized, far away from the initial site of infection. phenio_relaxed_subqs.owl UMLS:C0678185 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9063 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_L00 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_695.81 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013206 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85077 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_200946001 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_277475006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007473 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:36236 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0038235 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4025 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013231 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_33882007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001191 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0038325 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018229 biolink:NamedThing Stevens-Johnson syndrome Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area. phenio_relaxed_subqs.owl DOID:0050426 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_L51.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_695.12 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_695.13 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013262 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C79484 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608579 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_73442001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0004276 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:36426 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0038358 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10808 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_K25 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013276 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3388 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_397825006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0038395 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021680 biolink:NamedThing streptococcal infection Any of the several infectious disorders caused by members of streptococcus, a genus of gram positive bacteria belonging to the family Streptococcaceae. Streptococcal infections are classified into Groups A, B, C, D and G. phenio_relaxed_subqs.owl OBO:ICD9_041.00 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013290 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001316 biolink:NamedThing streptococcal meningitis An infectious meningitis caused by infection with Streptococcus. phenio_relaxed_subqs.owl MONDO:0020544 biolink:NamedThing streptococcal toxic-shock syndrome Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a Streptococcus pyogenes infection. phenio_relaxed_subqs.owl NCIT:C87062 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_85769006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001476 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0038459 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013319 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0038463 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005974 biolink:NamedThing strongyloidiasis An infection that is caused by nematodes of the genus Strongyloides, most commonly Strongyloides stercoralis, which is a soil-transmitted helminth, and which is characterized by a variety of gastrointestinal, dermatologic, and, occasionally, pulmonary manifestations. The worm's autoinfective life cycle can lead to hyper-infection and life-threatening dissemination in immunocompromised hosts decades after initial infection. phenio_relaxed_subqs.owl UMLS:C0085810 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0348996 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10955 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008195 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013322 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128398 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_187176005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007501 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:76 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0038478 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006980 biolink:NamedThing struma ovarii An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue. The aberrant thyroid tissue shows morphologic changes identical to thyroid adenoma or carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or Meigs syndrome (ascites and pleural effusion). phenio_relaxed_subqs.owl DOID:2640 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013330 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003332 biolink:NamedThing malignant struma ovarii An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue with morphologic changes identical to thyroid carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or with Meigs syndrome (ascites and pleural effusion). phenio_relaxed_subqs.owl MONDO:0003333 biolink:NamedThing benign struma ovarii A mature monodermal teratoma that arises from the ovary and is characterized by the presence of benign, thyroid-type tissues. phenio_relaxed_subqs.owl NCIT:C7468 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001192 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0038522 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009835 biolink:NamedThing subacute sclerosing panencephalitis Subacute sclerosing panencephalitis (SSPE) is a chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex. phenio_relaxed_subqs.owl DOID:8970 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007708 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A81.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013344 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85171 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:260470 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007502 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2806 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0038531 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006983 biolink:NamedThing subclavian steal syndrome An uncommon neurovascular condition seen with exertion of the upper extremity. It is usually caused by atherosclerotic stenosis or occlusion of the subclavian artery proximal to the origin of the vertebral artery. In order to maintain adequate perfusion of the arm during exercise on the affected side, the narrowed subclavian artery siphons off retrograde blood flow from the ipsilateral vertebral artery. This is possible due to lower blood pressure distal to the site of narrowing and collateral circulation through the circle of Willis. Affected individuals may remain asymptomatic until the oxygen demand generated from upper extremity exercise requires a large enough compensatory volume of blood to be diverted from the vertebral artery to provoke vertebrobasilar insufficiency and its accompanying neurological sequelae. Presenting clinical signs may include pain or numbness of the affected arm (with diminished pulses and a brachial systolic blood pressure differential of greater than 20 mmHg as compared to the opposite arm), vertigo, tinnitus, dysarthria, diplopia and syncope. Notably, unlike cerebral infarction, the clinical course does not lead to chronic neurologic disability. Prognosis for recovery of normal anterograde circulation is favorable following endovascular or surgical intervention. phenio_relaxed_subqs.owl DOID:13002 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_435.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013349 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35044 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_15258001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001195 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0038539 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006984 biolink:NamedThing subdural empyema An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the dura mater and the outer surface of the arachnoid. phenio_relaxed_subqs.owl DOID:11389 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013354 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_37660004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001196 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0038828 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002687 biolink:NamedThing superior mesenteric artery syndrome Superior mesenteric artery syndrome (SMAS) is a digestive condition that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and the superior mesenteric artery). This compression causes partial or complete blockage of the duodenum. Symptoms vary based on severity, but can be severely debilitating. Symptoms may include abdominal pain, fullness, nausea, vomiting, and/or weight loss. SMAS typically is due toloss of the mesenteric fat pad (fatty tissue that surrounds the superior mesenteric artery). The most common cause is significant weight loss caused by medical disorders, psychological disorders, or surgery. In younger patients, it most commonly occurs after corrective spinal surgery for scoliosis. Delays in diagnosis may result in significant complications. Depending on the cause and severity, treatment options may include addressing the underlying cause, dietary changes (small feedings or a liquid diet), and/or surgery. Symptoms may not resolve completely after treatment. phenio_relaxed_subqs.owl DOID:3557 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007712 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013478 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85175 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_197006009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001201 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0038868 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019037 biolink:NamedThing progressive supranuclear palsy Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. phenio_relaxed_subqs.owl UMLS:CN205522 biolink:NamedThing phenio_relaxed_subqs.owl DOID:678 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007471 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013494 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010997 biolink:NamedThing supranuclear palsy, progressive, 1 Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia. phenio_relaxed_subqs.owl MONDO:0012278 biolink:NamedThing supranuclear palsy, progressive, 2 phenio_relaxed_subqs.owl MONDO:0012576 biolink:NamedThing supranuclear palsy, progressive, 3 phenio_relaxed_subqs.owl MONDO:0020488 biolink:NamedThing atypical progressive supranuclear palsy syndrome Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA). phenio_relaxed_subqs.owl NCIT:C85028 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_192976002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:683 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0039006 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013553 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0025138 biolink:NamedThing vesicular exanthema of swine A calicivirus infection of swine characterized by hydropic degeneration of the oral and cutaneous epithelia. phenio_relaxed_subqs.owl MONDO:0025494 biolink:NamedThing porcine reproductive and respiratory syndrome A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by porcine respiratory and reproductive syndrome virus. (Radostits et al., Veterinary Medicine, 8th ed, p1048) phenio_relaxed_subqs.owl MONDO:0025506 biolink:NamedThing porcine postweaning multisystemic wasting syndrome A worldwide emerging disease of weaned piglets first recognized in swine herds in western Canada in 1997. This syndrome is characterized by progressive weight loss, rapid (tachypnea) and difficult (dyspnea) breathing, and yellowing of skin. PMWS is caused by porcine circovirus infection, specifically type 2 or PCV-2. phenio_relaxed_subqs.owl UMLS:C0039007 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013554 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0039010 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013555 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0039082 biolink:NamedThing phenio_relaxed_subqs.owl DOID:225 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013577 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000507 biolink:NamedThing inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure. phenio_relaxed_subqs.owl MONDO:0000508 biolink:NamedThing syndromic intellectual disability A intellectual disability that is part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0000849 biolink:NamedThing fibrogenesis imperfecta ossium A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures. phenio_relaxed_subqs.owl MONDO:0001558 biolink:NamedThing Potter sequence A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure. phenio_relaxed_subqs.owl MONDO:0001631 biolink:NamedThing vertebral artery insufficiency A syndrome which occurs as a result of the occlusion of one of the vertebral arteries. It may be caused by atherosclerosis, embolism or hemorrhage. Collateral circulation through the circle of Willis is usually comprised as well. Clinical signs may include vertigo, nystagmus, dysarthria, ataxia and sensorimotor deficits. Clinical course may lead to persistence of neurologic deficits. Prognosis is variable with a substantial risk for recurrent infarction. phenio_relaxed_subqs.owl MONDO:0001823 biolink:NamedThing sick sinus syndrome A constellation of signs and symptoms which may include syncope, fatigue, dizziness, and alternating periods of bradycardia and atrial tachycardia, which is caused by sinoatrial node dysfunction. phenio_relaxed_subqs.owl MONDO:0001858 biolink:NamedThing Tietze syndrome Idiopathic painful nonsuppurative swellings of one or more costal cartilages, especially of the second rib. The anterior chest pain may mimic that of coronary artery disease. phenio_relaxed_subqs.owl MONDO:0001881 biolink:NamedThing toxic shock syndrome A rare acute life-threatening systemic bacterial noncontagious illness caused by exotoxins from bacteria of either the Streptococcus pyogenes or Staphylococcus aureus type. It is characterized by high fever, hypotension, rash, multi-organ dysfunction, and cutaneous desquamation during the early convalescent period. The toxins affect the host immune system, causing an exuberant and pathological host inflammatory response. Laboratory findings include leukocytosis, elevated prothrombin time, hypoalbuminemia, hypocalcemia, and pyuria. phenio_relaxed_subqs.owl MONDO:0001956 biolink:NamedThing capillary leak syndrome A syndrome characterized by leakage of intravascular fluids into the extravascular space. This syndrome is observed in patients who demonstrate a state of generalized leaky capillaries following shock syndromes, low-flow states, ischemia-reperfusion injuries, toxemias, medications, or poisoning. It can lead to generalized edema and multiple organ failure. phenio_relaxed_subqs.owl MONDO:0003754 biolink:NamedThing Brown-Sequard syndrome Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome most commonly occurs in the the thoracic spine (upper and middle back). There are several causes of Brown-Sequard syndrome, including: a spinal cord tumor, trauma (such as a puncture wound to the neck or back), infectious or inflammatory diseases (tuberculosis or multiple sclerosis), and disk herniation. Treatment for this condition varies depending on the underlying cause. phenio_relaxed_subqs.owl MONDO:0003962 biolink:NamedThing Froelich syndrome Froelich syndrome is characterized by obesity and hypogonadism due to a hypothalamic-pituitary disorder. The hypothalamus is a part of the brain where certain functions such as sleep cycles and body temperature are regulated. The pituitary is a gland that makes hormones that affect growth and the functions of other glands in the body. Froehlich syndrome is acquired(i.e., not thought to be inherited or genetic). This syndrome appears to affect males more commonly. The term 'Froelich syndrome' is rarely used today. phenio_relaxed_subqs.owl MONDO:0003963 biolink:NamedThing diffuse infiltrative lymphocytosis syndrome This is usually an oligoclonal CD8+ lymphocytic infiltration of various organs. phenio_relaxed_subqs.owl MONDO:0003965 biolink:NamedThing Capgras syndrome A rare neuropsychiatric disorder whose primary feature is the delusion that relatives or close acquaintances are not the persons that they are known to be. Visual recognition appears intact but familiar persons are thought be imposters, that is, they appear similar or identical to known individuals but are not. Most cases are seen in the context of a psychotic state. However, if manifested post-traumatically, the cause is most likely due to neurologic impairment. This disorder should be contrasted with prosopagnosia, in which an individual may not recognize a familiar person at all. phenio_relaxed_subqs.owl MONDO:0004731 biolink:NamedThing central sleep apnea syndrome A broad classification of disorders which includes 6 subtypes (primary central sleep apnea, central sleep apnea due to Cheyne-Stokes breathing pattern, central sleep apnea due to medical condition not Cheyne-Stokes, central sleep apnea due to high-altitude periodic breathing, central sleep apnea due to drug or substance and primary sleep apnea of infancy) that are each characterized by interruptions in breathing while asleep. It is caused by improper signaling from the brainstem to respiratory muscles and is triggered by either hypoventilation or hyperventilation. In adults, this disorder may arise following a stroke, congestive heart failure, trauma, infection or the use of narcotic medications. It is more common in older males and may present as a co-morbid condition to obesity. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health. phenio_relaxed_subqs.owl MONDO:0005542 biolink:NamedThing acute coronary syndrome Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction. phenio_relaxed_subqs.owl MONDO:0005567 biolink:NamedThing substance withdrawal syndrome A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions. phenio_relaxed_subqs.owl MONDO:0005632 biolink:NamedThing acute chest syndrome A vaso-occlusive crisis of the pulmonary vasculature occurring in patients with sickle cell disease. It is characterized by the presence of a new radiodensity on a chest radiograph accompanied by fever, cough, sputum production, dyspnea, or hypoxia. phenio_relaxed_subqs.owl MONDO:0005663 biolink:NamedThing Barre-Lieou syndrome A neurologic syndrome following injury of the spinal sympathetic nerves of the neck. The injury usually results from arthritis or pinching by the adjacent vertebrae. Symptoms include facial pain, chronic allergies, dizziness, neck pain, ear pain and vertigo. phenio_relaxed_subqs.owl MONDO:0005693 biolink:NamedThing cauda equina syndrome Cauda equina syndrome refers to a group of symptoms that occur when some of the nerves in the cauda equina (the bundle of nerves that spread out from the bottom of the spinal cord) become compressed and/or damaged. Signs and symptoms of this condition include pain, numbness, or tingling in the lower back and/or legs; ' foot drop '; problems with bowel and/or bladder control; and sexual dysfunction. Cauda equina syndrome may be caused by a herniated disk, tumor, infection, fracture, or spinal stenosis. Treatment usually targets the underlying cause of the condition and often includes surgery to remove the material that is pressing on the nerves. Physical therapy, occupational therapy, and/or other services may be required if symptoms persist following surgery. phenio_relaxed_subqs.owl MONDO:0005817 biolink:NamedThing Kluver-Bucy syndrome Kluver Bucy syndrome is a rare behavioral impairment characterized byinappropriate sexual behaviors and mouthing of objects. Other signs and symptoms, includea diminished ability to visually recognize objects,loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes encephalitis and head trauma. Treatment is symptomatic and may include the use of psychotropic medications. phenio_relaxed_subqs.owl MONDO:0005862 biolink:NamedThing multiple chemical sensitivity An acquired disorder characterized by recurrent symptoms, referable to multiple organ systems, occurring in response to demonstrable exposure to many chemically unrelated compounds at doses below those established in the general population to cause harmful effects. (Cullen mr. The worker with multiple chemical sensitivities: an overview. Occup Med 1987;2(4):655-61) phenio_relaxed_subqs.owl MONDO:0005907 biolink:NamedThing persian gulf syndrome Unexplained symptoms reported by veterans of the Persian Gulf War with Iraq in 1991. The symptoms reported include fatigue, skin rash, muscle and joint pain, headaches, loss of memory, shortness of breath, gastrointestinal and respiratory symptoms, and extreme sensitivity to commonly occurring chemicals. (Nature 1994 May 5;369(6475):8) phenio_relaxed_subqs.owl MONDO:0005979 biolink:NamedThing thoracic outlet syndrome A syndrome resulting from the compression of the blood vessels or nerves in the space between the clavicle and first rib (thoracic outlet). It is caused by car accident injuries or repetitive job or sport-related injuries. Signs and symptoms include pain in the shoulders and neck, numbness in the fingers, and weakening grip. phenio_relaxed_subqs.owl MONDO:0006015 biolink:NamedThing Waterhouse-Friderichsen syndrome A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency. phenio_relaxed_subqs.owl MONDO:0006502 biolink:NamedThing acute respiratory distress syndrome Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition. phenio_relaxed_subqs.owl MONDO:0006520 biolink:NamedThing Achenbach syndrome A rare disorder which affects the volar surfaces of fingers. Clinical signs include recurrent, spontaneous or post-traumatic bruising of fingers. The clinical course of the resultant hematoma usually follows a pattern of resolution within days. phenio_relaxed_subqs.owl MONDO:0006650 biolink:NamedThing anterior spinal artery syndrome Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with atherosclerosis of the aorta and may result from dissection of an aortic aneurysm or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50) phenio_relaxed_subqs.owl MONDO:0006827 biolink:NamedThing lateral medullary syndrome A syndrome caused by an infarct in the vertebral or posterior inferior cerebellar artery. It is characterized by sensory defects affecting the same side of the face as the infarct and the opposite side of the trunk as the infarct. Patients experience difficulty swallowing and/or speaking. phenio_relaxed_subqs.owl MONDO:0006994 biolink:NamedThing tarsal tunnel syndrome Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome. phenio_relaxed_subqs.owl MONDO:0006995 biolink:NamedThing tethered spinal cord syndrome A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence. phenio_relaxed_subqs.owl MONDO:0007147 biolink:NamedThing obstructive sleep apnea syndrome Cessation of air flow during sleep due to upper airway obstruction. phenio_relaxed_subqs.owl MONDO:0007216 biolink:NamedThing brachydactyly type A2 Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger. phenio_relaxed_subqs.owl MONDO:0007226 biolink:NamedThing brachydactyly-nystagmus-cerebellar ataxia syndrome Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients. phenio_relaxed_subqs.owl MONDO:0007227 biolink:NamedThing Sillence syndrome Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic. phenio_relaxed_subqs.owl MONDO:0007269 biolink:NamedThing dilated cardiomyopathy 1A Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase. phenio_relaxed_subqs.owl MONDO:0007321 biolink:NamedThing autosomal dominant chondrodysplasia punctata Autosomal dominant form of chondrodysplasia punctata. phenio_relaxed_subqs.owl MONDO:0007432 biolink:NamedThing cerebral arteriopathy with subcortical infarcts and leukoencephalopathy phenio_relaxed_subqs.owl MONDO:0007539 biolink:NamedThing encephalopathy, recurrent, of childhood phenio_relaxed_subqs.owl MONDO:0007631 biolink:NamedThing chromosome 16p12.1 deletion syndrome, 520kb A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects. phenio_relaxed_subqs.owl MONDO:0007635 biolink:NamedThing Frasier syndrome Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma. phenio_relaxed_subqs.owl MONDO:0007646 biolink:NamedThing Gamstorp-Wohlfart syndrome Autosomal recessive axonal neuropathy with neuromyotonia is a rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment. phenio_relaxed_subqs.owl MONDO:0007661 biolink:NamedThing Tourette syndrome A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen. phenio_relaxed_subqs.owl MONDO:0007666 biolink:NamedThing glaucoma-sleep apnea syndrome Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children). phenio_relaxed_subqs.owl MONDO:0007686 biolink:NamedThing gray platelet syndrome Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear. phenio_relaxed_subqs.owl MONDO:0007711 biolink:NamedThing Bencze syndrome Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979. phenio_relaxed_subqs.owl MONDO:0007732 biolink:NamedThing Holt-Oram syndrome Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. phenio_relaxed_subqs.owl MONDO:0007800 biolink:NamedThing chromosome 18p deletion syndrome Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18. phenio_relaxed_subqs.owl MONDO:0007838 biolink:NamedThing Jacobsen syndrome Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. phenio_relaxed_subqs.owl MONDO:0007863 biolink:NamedThing Kleine-Levin syndrome Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances. phenio_relaxed_subqs.owl MONDO:0007880 biolink:NamedThing congenital laryngeal web Congenital laryngeal web is a rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords. phenio_relaxed_subqs.owl MONDO:0008201 biolink:NamedThing Perry syndrome Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression. phenio_relaxed_subqs.owl MONDO:0008268 biolink:NamedThing polydactyly-myopia syndrome Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986. phenio_relaxed_subqs.owl MONDO:0008323 biolink:NamedThing Liddle syndrome Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone. phenio_relaxed_subqs.owl MONDO:0008327 biolink:NamedThing exfoliation syndrome An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma. phenio_relaxed_subqs.owl MONDO:0008428 biolink:NamedThing septooptic dysplasia Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects. phenio_relaxed_subqs.owl MONDO:0008517 biolink:NamedThing syndactyly-polydactyly-ear lobe syndrome phenio_relaxed_subqs.owl MONDO:0008585 biolink:NamedThing HELLP syndrome A life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also include medications needed for the mother or baby, and blood transfusion for severe bleeding problems. phenio_relaxed_subqs.owl MONDO:0008650 biolink:NamedThing posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters. phenio_relaxed_subqs.owl MONDO:0008758 biolink:NamedThing mitochondrial DNA depletion syndrome 4a Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure. phenio_relaxed_subqs.owl MONDO:0008904 biolink:NamedThing camptomelic syndrome, long-limb type phenio_relaxed_subqs.owl MONDO:0009099 biolink:NamedThing nephrogenic diabetes insipidus-intracranial calcification syndrome This syndrome is characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism. phenio_relaxed_subqs.owl MONDO:0009133 biolink:NamedThing cerebellar ataxia, intellectual disability, and dysequilibrium A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia. phenio_relaxed_subqs.owl MONDO:0009156 biolink:NamedThing ectrodactyly-polydactyly syndrome A rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982. phenio_relaxed_subqs.owl MONDO:0009181 biolink:NamedThing epidermolysis bullosa simplex 5B, with muscular dystrophy A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy. phenio_relaxed_subqs.owl MONDO:0009200 biolink:NamedThing eyebrow duplication-syndactyly syndrome Eyebrow duplication-syndactyly syndrome is characterised by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive. phenio_relaxed_subqs.owl MONDO:0009228 biolink:NamedThing gingival fibromatosis-facial dysmorphism syndrome Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. phenio_relaxed_subqs.owl MONDO:0009350 biolink:NamedThing Holzgreve-Wagner-Rehder syndrome A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects. phenio_relaxed_subqs.owl MONDO:0009393 biolink:NamedThing ornithine translocase deficiency Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (triple H syndrome) is a disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or chronic liver dysfunction. phenio_relaxed_subqs.owl MONDO:0009509 biolink:NamedThing Landau-Kleffner syndrome Landau-Kleffner syndrome (LKS) is a rare neurological syndrome characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and recurrent seizures (epilepsy). Children with LKS typically develop normally until signs and symptoms of the syndrome begin to develop between age 2 and 8 years. Males are more often affected by LKS than females. In about 20% of people with LKS, mutations (changes) in the GRIN2A gene have been identified. The syndrome is inherited in an autosomal dominant manner. In other cases, the syndrome may be caused by changes to other unidentified genes. LKS is diagnosed when a doctor sees clinical features that are consistent with the syndrome such as a loss of speech and an electroencephalogram (EEG) that shows specific kinds of seizure activity. Genetic testing can be used to confirm if there is a mutation in GRIN2A, but this testing is not done routinely. Treatment for LKS usually consists of medications such as anticonvulsants and corticosteroids to help prevent seizures. Speech therapy should also be started promptly in order to ensure the best long-term outlook for children with LKS. phenio_relaxed_subqs.owl MONDO:0009624 biolink:NamedThing microcephaly and chorioretinopathy 1 An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy. phenio_relaxed_subqs.owl MONDO:0009664 biolink:NamedThing mulibrey nanism A prenatal onset growth disorder with multiorgan manifestations. phenio_relaxed_subqs.owl MONDO:0009668 biolink:NamedThing lethal multiple pterygium syndrome Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition. phenio_relaxed_subqs.owl MONDO:0009728 biolink:NamedThing nephronophthisis 1 Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure. phenio_relaxed_subqs.owl MONDO:0009833 biolink:NamedThing Shwachman-Diamond syndrome Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation. phenio_relaxed_subqs.owl MONDO:0009838 biolink:NamedThing Parana hard-skin syndrome A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death. phenio_relaxed_subqs.owl MONDO:0009856 biolink:NamedThing Peters plus syndrome An autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism. phenio_relaxed_subqs.owl MONDO:0009904 biolink:NamedThing Gitelman syndrome Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. phenio_relaxed_subqs.owl MONDO:0009926 biolink:NamedThing autosomal recessive multiple pterygium syndrome A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant. phenio_relaxed_subqs.owl MONDO:0009965 biolink:NamedThing Perlman syndrome Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. phenio_relaxed_subqs.owl MONDO:0010030 biolink:NamedThing Sjogren syndrome An autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjögren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjögren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain phenio_relaxed_subqs.owl MONDO:0010080 biolink:NamedThing familial infantile bilateral striatal necrosis The familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. phenio_relaxed_subqs.owl MONDO:0010121 biolink:NamedThing thrombocytopenia-absent radius syndrome Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia. phenio_relaxed_subqs.owl MONDO:0010198 biolink:NamedThing Wernicke-Korsakoff syndrome Wernicke-Korsakoff syndrome is a brain disorder, due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. The term refers to two different syndromes, each representing a different stage of the disease. Wernicke's encephalopathy represents the 'acute' phase and Korsakoff's syndrome represents the 'chronic' phase. However, they are used interchangeable in many sites. Wernicke's encephalopathy is characterized by confusion, abnormal stance and gait (ataxia), and abnormal eye movements (nystagmus). Korsakoff's syndrome is observed in a small number of patients. It is a type of dementia, characterized by memory loss and confabulation (filling in of memory gaps with data the patient can readily recall) and involvement of the heart, vascular, and nervous system. Wernicke-Korsakoff syndrome mainly results from chronic alcohol use, but also from dietary deficiencies, prolonged vomiting, eating disorders, systemic diseases (cancer, AIDS, infections), bariatric surgery, transplants, or the effects of chemotherapy. Studies indicate that there may be some genetic predisposition for the disease.Treatment involves supplementing the diet with thiamine. Wernicke encephalopathy is an acute syndrome and requires emergency treatment to prevent death and neurologic complications. In cases where the diagnosis is not confirmed, patients should still be treated while additional evaluations are completed. phenio_relaxed_subqs.owl MONDO:0010207 biolink:NamedThing woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome phenio_relaxed_subqs.owl MONDO:0010382 biolink:NamedThing fragile X-associated tremor/ataxia syndrome Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia. phenio_relaxed_subqs.owl MONDO:0010568 biolink:NamedThing Aicardi syndrome Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females. phenio_relaxed_subqs.owl MONDO:0010731 biolink:NamedThing Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk. phenio_relaxed_subqs.owl MONDO:0010797 biolink:NamedThing Pearson syndrome Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction. phenio_relaxed_subqs.owl MONDO:0010798 biolink:NamedThing proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterised by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus. phenio_relaxed_subqs.owl MONDO:0010814 biolink:NamedThing chondrodysplasia-pseudohermaphroditism syndrome Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested. phenio_relaxed_subqs.owl MONDO:0010821 biolink:NamedThing familial developmental dysphasia Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal. phenio_relaxed_subqs.owl MONDO:0010879 biolink:NamedThing CODAS syndrome Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies. phenio_relaxed_subqs.owl MONDO:0010886 biolink:NamedThing 2q37 microdeletion syndrome Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism. phenio_relaxed_subqs.owl MONDO:0010901 biolink:NamedThing HEC syndrome HEC syndrome is characterised by communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The aetiology of the syndrome is unknown but a viral or genetic origin has been proposed. phenio_relaxed_subqs.owl MONDO:0010930 biolink:NamedThing anophthalmia plus syndrome Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested. phenio_relaxed_subqs.owl MONDO:0011003 biolink:NamedThing dilated cardiomyopathy 1E Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene. phenio_relaxed_subqs.owl MONDO:0011110 biolink:NamedThing dyssegmental dysplasia-glaucoma syndrome This syndrome is characterised by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children. phenio_relaxed_subqs.owl MONDO:0011147 biolink:NamedThing chromosome 18q deletion syndrome A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts. phenio_relaxed_subqs.owl MONDO:0011178 biolink:NamedThing infantile convulsions and choreoathetosis Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence. phenio_relaxed_subqs.owl MONDO:0011203 biolink:NamedThing Pierre Robin sequence with pectus excavatum and rib and scapular anomalies phenio_relaxed_subqs.owl MONDO:0011320 biolink:NamedThing radioulnar synostosis-microcephaly-scoliosis syndrome An extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit. phenio_relaxed_subqs.owl MONDO:0011636 biolink:NamedThing Diamond-Blackfan anemia 2 phenio_relaxed_subqs.owl MONDO:0011669 biolink:NamedThing hypotonia-cystinuria syndrome A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. phenio_relaxed_subqs.owl MONDO:0011686 biolink:NamedThing DNA ligase IV deficiency LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID). phenio_relaxed_subqs.owl MONDO:0011690 biolink:NamedThing Camurati-Engelmann disease, type 2 Camurati-Engelmann Disease not associated with TGFB1. This is an n-of-1 use case where only one patient or family has been described with this disorder. phenio_relaxed_subqs.owl MONDO:0011758 biolink:NamedThing Hurler syndrome Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy. phenio_relaxed_subqs.owl MONDO:0011759 biolink:NamedThing Hurler-Scheie syndrome Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. phenio_relaxed_subqs.owl MONDO:0011885 biolink:NamedThing tubulointerstitial nephritis and uveitis syndrome An autoimmune disorder comprising tubulointerstitial nephritis and uveitis. phenio_relaxed_subqs.owl MONDO:0012081 biolink:NamedThing 15q11q13 microduplication syndrome The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown. phenio_relaxed_subqs.owl MONDO:0012275 biolink:NamedThing fetal valproate syndrome Fetal valproate syndrome (FVS), is an anticonvulsant drug-related embryofetopathy that can occur when a fetus is exposed to valproic acid (VPA), characterized by distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication). phenio_relaxed_subqs.owl MONDO:0012791 biolink:NamedThing mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA. phenio_relaxed_subqs.owl MONDO:0013038 biolink:NamedThing CLOVES syndrome CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi. phenio_relaxed_subqs.owl MONDO:0013150 biolink:NamedThing parkinsonism-dystonia, infantile Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal. phenio_relaxed_subqs.owl MONDO:0013282 biolink:NamedThing alpha 1-antitrypsin deficiency Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis. phenio_relaxed_subqs.owl MONDO:0013325 biolink:NamedThing COG5-CDG COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia. phenio_relaxed_subqs.owl MONDO:0014247 biolink:NamedThing familial episodic pain syndrome with predominantly lower limb involvement A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age. phenio_relaxed_subqs.owl MONDO:0014335 biolink:NamedThing diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome phenio_relaxed_subqs.owl MONDO:0014369 biolink:NamedThing postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination. phenio_relaxed_subqs.owl MONDO:0014528 biolink:NamedThing chronic atrial and intestinal dysrhythmia A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO). phenio_relaxed_subqs.owl MONDO:0015150 biolink:NamedThing complex hereditary spastic paraplegia A hereditary spastic paraplegia that is part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0015208 biolink:NamedThing syndromic esophageal malformation A esophageal malformation that is part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0015210 biolink:NamedThing syndromic gastroduodenal malformation A gastroduodenal malformation that is part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0015212 biolink:NamedThing syndromic intestinal malformation A intestinal malformation that is part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0015216 biolink:NamedThing syndromic diaphragmatic or abdominal wall malformation A diaphragmatic or abdominal wall malformation that is part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0015222 biolink:NamedThing syndromic respiratory or mediastinal malformation A respiratory or mediastinal malformation that is part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0015228 biolink:NamedThing pentasomy X Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX). phenio_relaxed_subqs.owl MONDO:0015230 biolink:NamedThing anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992. phenio_relaxed_subqs.owl MONDO:0015246 biolink:NamedThing syndromic anorectal malformation A anorectal malformation that is part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0015263 biolink:NamedThing Brugada syndrome A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death. phenio_relaxed_subqs.owl MONDO:0015282 biolink:NamedThing cardiomyopathy-cataract-hip spine disease syndrome Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985. phenio_relaxed_subqs.owl MONDO:0015311 biolink:NamedThing autism-facial port-wine stain syndrome This syndrome is characterised by the presence of a unilateral angioma on the face and autistic developmental problems characterised by language delay and atypical social interactions. phenio_relaxed_subqs.owl MONDO:0015338 biolink:NamedThing syndromic craniosynostosis A craniosynostosis that is part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0015347 biolink:NamedThing multicentric reticulohistiocytosis Multicentric reticulohistiocytosis (MRH) is a rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis. phenio_relaxed_subqs.owl MONDO:0015397 biolink:NamedThing oculo-auriculo-vertebral spectrum phenio_relaxed_subqs.owl MONDO:0015457 biolink:NamedThing corpus callosum agenesis-double urinary collecting system syndrome phenio_relaxed_subqs.owl MONDO:0015620 biolink:NamedThing syndromic urogenital tract malformation A urogenital tract malformation that is part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0015691 biolink:NamedThing hypereosinophilic syndrome Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage. phenio_relaxed_subqs.owl MONDO:0015762 biolink:NamedThing progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. phenio_relaxed_subqs.owl MONDO:0015778 biolink:NamedThing syndromic hypothyroidism A hypothyroidism that is part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0015846 biolink:NamedThing syndromic uterovaginal malformation A uterovaginal malformation that is part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0015892 biolink:NamedThing growth hormone insensitivity syndrome Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency. phenio_relaxed_subqs.owl MONDO:0015905 biolink:NamedThing syndromic dyslipidemia A inherited lipid metabolism disorder that is part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0015912 biolink:NamedThing macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. phenio_relaxed_subqs.owl MONDO:0016008 biolink:NamedThing fetal hydantoin syndrome Fetal hydantoin syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported. phenio_relaxed_subqs.owl MONDO:0016010 biolink:NamedThing vitamin K-antagonist embryofetopathy A teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly. phenio_relaxed_subqs.owl MONDO:0016017 biolink:NamedThing methimazole embryofetopathy Methimazole embryopathy is a teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia. phenio_relaxed_subqs.owl MONDO:0016025 biolink:NamedThing myoclonic-astastic epilepsy Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children. phenio_relaxed_subqs.owl MONDO:0016030 biolink:NamedThing Evans syndrome Evans syndrome is a rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology. phenio_relaxed_subqs.owl MONDO:0016085 biolink:NamedThing Cole-Carpenter syndrome Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia). phenio_relaxed_subqs.owl MONDO:0016120 biolink:NamedThing myotonic syndrome phenio_relaxed_subqs.owl MONDO:0016244 biolink:NamedThing atypical hemolytic-uremic syndrome Atypical hemolytic-uremic syndrome (aHUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction. phenio_relaxed_subqs.owl MONDO:0016456 biolink:NamedThing 5q14.3 microdeletion syndrome The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. phenio_relaxed_subqs.owl MONDO:0016463 biolink:NamedThing syndromic agammaglobulinemia A agammaglobulinemia that is part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0016522 biolink:NamedThing Kousseff syndrome A syndrome characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. phenio_relaxed_subqs.owl MONDO:0016532 biolink:NamedThing Lennox-Gastaut syndrome Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies. phenio_relaxed_subqs.owl MONDO:0016565 biolink:NamedThing syndromic genetic obesity phenio_relaxed_subqs.owl MONDO:0016758 biolink:NamedThing microcephaly-brain defect-spasticity-hypernatremia syndrome Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings reported and there have been no further descriptions in the literature since 1986. phenio_relaxed_subqs.owl MONDO:0016818 biolink:NamedThing Mikati-Najjar-Sahli syndrome Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities). phenio_relaxed_subqs.owl MONDO:0017195 biolink:NamedThing Bruck syndrome Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures. phenio_relaxed_subqs.owl MONDO:0017199 biolink:NamedThing osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterised by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family. phenio_relaxed_subqs.owl MONDO:0017263 biolink:NamedThing inherited ichthyosis syndromic form A inherited ichthyosis that is part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0017278 biolink:NamedThing autoimmune polyendocrinopathy A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues. phenio_relaxed_subqs.owl MONDO:0017286 biolink:NamedThing tempi syndrome TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting. phenio_relaxed_subqs.owl MONDO:0017288 biolink:NamedThing DICER1 syndrome A rare, autosomal dominant inherited syndrome caused by mutations in the DICER1 gene. People with this syndrome are at an increased risk of developing pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumor of the ovary, and multinodular goiter. phenio_relaxed_subqs.owl MONDO:0017372 biolink:NamedThing congenital varicella syndrome Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection. phenio_relaxed_subqs.owl MONDO:0017435 biolink:NamedThing popliteal pterygium syndrome A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora. phenio_relaxed_subqs.owl MONDO:0017583 biolink:NamedThing mirror polydactyly-vertebral segmentation-limbs defects syndrome Mirror polydactyly-vertebral segmentation-limbs defects syndrome is characterised by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene. phenio_relaxed_subqs.owl MONDO:0017980 biolink:NamedThing syngnathia multiple anomalies phenio_relaxed_subqs.owl MONDO:0017991 biolink:NamedThing Takayasu arteritis Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm. phenio_relaxed_subqs.owl MONDO:0018034 biolink:NamedThing thalidomide embryopathy A group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment. phenio_relaxed_subqs.owl MONDO:0018066 biolink:NamedThing trisomy X Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). phenio_relaxed_subqs.owl MONDO:0018092 biolink:NamedThing Vogt-Koyanagi-Harada disease A bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations. phenio_relaxed_subqs.owl MONDO:0018096 biolink:NamedThing Weill-Marchesani syndrome Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma. phenio_relaxed_subqs.owl MONDO:0018249 biolink:NamedThing finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome phenio_relaxed_subqs.owl MONDO:0018609 biolink:NamedThing syndromic hereditary optic neuropathy A hereditary optic neuropathy that is part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0018772 biolink:NamedThing Joubert syndrome Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. phenio_relaxed_subqs.owl MONDO:0018800 biolink:NamedThing Kallmann syndrome Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs). phenio_relaxed_subqs.owl MONDO:0018901 biolink:NamedThing left ventricular noncompaction Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events. phenio_relaxed_subqs.owl MONDO:0018921 biolink:NamedThing Meckel syndrome A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia. phenio_relaxed_subqs.owl MONDO:0018927 biolink:NamedThing SUNCT syndrome SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing). phenio_relaxed_subqs.owl MONDO:0018940 biolink:NamedThing congenital myasthenic syndrome Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness. phenio_relaxed_subqs.owl MONDO:0018954 biolink:NamedThing Loeys-Dietz syndrome Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum. phenio_relaxed_subqs.owl MONDO:0018976 biolink:NamedThing schisis association The combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates. phenio_relaxed_subqs.owl MONDO:0018983 biolink:NamedThing Tolosa-Hunt syndrome Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others. phenio_relaxed_subqs.owl MONDO:0019103 biolink:NamedThing benign exophthalmos syndrome Benign exophthalmos syndrome is characterised by slowly progressive unilateral exophthalmos and ipsilateral mucosal turbinate hypertrophy, without intraorbital or intranasal lesions. phenio_relaxed_subqs.owl MONDO:0019104 biolink:NamedThing Sandifer syndrome Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia. phenio_relaxed_subqs.owl MONDO:0019130 biolink:NamedThing tubular renal disease-cardiomyopathy syndrome A syndrome characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. phenio_relaxed_subqs.owl MONDO:0019282 biolink:NamedThing syndromic hair shaft abnormality phenio_relaxed_subqs.owl MONDO:0019285 biolink:NamedThing syndromic nail anomaly A nail anomaly that is part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0019312 biolink:NamedThing Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity. phenio_relaxed_subqs.owl MONDO:0019390 biolink:NamedThing Susac syndrome Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear. phenio_relaxed_subqs.owl MONDO:0019508 biolink:NamedThing van der Woude syndrome Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate. phenio_relaxed_subqs.owl MONDO:0019520 biolink:NamedThing syndromic lymphedema A lymphedema that is part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0019563 biolink:NamedThing CREST syndrome CREST syndrome is a subtype of limited cutaneous systemic sclerosis (lcSSc) whose name is an acronym for the cardinal clinical features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia. phenio_relaxed_subqs.owl MONDO:0019589 biolink:NamedThing syndromic genetic hearing loss phenio_relaxed_subqs.owl MONDO:0019618 biolink:NamedThing Sheehan syndrome An uncommon cause of hypopituitarism seen after severe postpartum hemorrhaging. Prolonged hypovolemia leads to ischemic necrosis of the pituitary. Clinical signs typically present in the puerperium and include failure to begin lactation, fatigue, hypotension and eventual amenorrhea. Clinical course is usually mild, however extreme cases may progress to adrenal failure. Prognosis is most favorable when hormone replacement is initiated soon after symptom onset. phenio_relaxed_subqs.owl MONDO:0019828 biolink:NamedThing pituitary stalk interruption syndrome Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk. phenio_relaxed_subqs.owl MONDO:0019943 biolink:NamedThing hereditary continuous muscle fiber activity Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia. phenio_relaxed_subqs.owl MONDO:0020157 biolink:NamedThing syndromic palpebral coloboma phenio_relaxed_subqs.owl MONDO:0020165 biolink:NamedThing syndromic epicanthus phenio_relaxed_subqs.owl MONDO:0020208 biolink:NamedThing syndromic myopia A myopia (disease) that is part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0020210 biolink:NamedThing syndromic hyperopia A hyperopia that is part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0020211 biolink:NamedThing syndromic keratoconus A keratoconus (disease) that is part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0020215 biolink:NamedThing syndromic corneal dystrophy A corneal dystrophy (disease) that is part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0020225 biolink:NamedThing syndromic cataract A cataract (disease) that is part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0020240 biolink:NamedThing syndromic retinitis pigmentosa A retinitis pigmentosa that is part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0020291 biolink:NamedThing hypoplastic right heart syndrome Hypoplastic right-heart syndrome (HRHS) is a rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type. Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia. phenio_relaxed_subqs.owl MONDO:0020404 biolink:NamedThing shone complex A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis. phenio_relaxed_subqs.owl MONDO:0020435 biolink:NamedThing atrial septal defect, coronary sinus type phenio_relaxed_subqs.owl MONDO:0020491 biolink:NamedThing subcortical band heterotopia A developmental brain abnormality characterized by atypical migration of neurons during cortical development. phenio_relaxed_subqs.owl MONDO:0021058 biolink:NamedThing neoplastic syndrome A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired. phenio_relaxed_subqs.owl MONDO:0021670 biolink:NamedThing post-infectious syndrome phenio_relaxed_subqs.owl MONDO:0021752 biolink:NamedThing Achard-Thiers syndrome Achard–Thiers syndrome combines the features of adrenogenital syndrome and Cushing syndrome. It occurs mainly in post-menopausal women phenio_relaxed_subqs.owl MONDO:0021761 biolink:NamedThing acral dysostosis dyserythropoiesis syndrome An erythrocytic disorder that is characterized by macrocytosis and megaloblastic changes of the bone marrow cells, with additional morphological defects of hands and feet. phenio_relaxed_subqs.owl MONDO:0021829 biolink:NamedThing agnathia-microstomia-synotia phenio_relaxed_subqs.owl MONDO:0021836 biolink:NamedThing Aksu von Stockhausen syndrome A syndrome characterized by a malformations of the neck due to a branchial arch defect. In the neonatal period the following signs were noted: symmetrical preauricular pits, retroauricular additional rudimentary auricles, a blindly ending coccygeal groove, microstomia and papillomata of the hypopharynx. This is an n-of-1 use case where only one patient or family has been described with this disorder. phenio_relaxed_subqs.owl MONDO:0021845 biolink:NamedThing Aloi Tomasini Isaia syndrome A syndrome characterized by a unilateral linear basal cell nevus, diffuse osteoma cutis, unilateral anodontia (missing teeth), and abnormal bone mineralization. This is an n-of-1 use case where only one patient or family has been described with this disorder. phenio_relaxed_subqs.owl MONDO:0021849 biolink:NamedThing alopecia macular degeneration growth retardation syndrome phenio_relaxed_subqs.owl MONDO:0021895 biolink:NamedThing temporomandibular joint dysfunction syndrome A common disorder noted with jaw movement. It may be caused by malocclusion, repetitive use injury, trauma or arthritis. It is more prevalent among females between their second and fourth decades. Clinical signs include preauricular pain, temporomandibular joint clicking (as the mandibular condyle slips from the articulation made with the capsular disc and temporal bone) and restriction of jaw motion. Clinical course is typically benign but may progress to associated headaches, ear and neck pain, tinnitus and dislocation of temporomandibular joint. Prognosis is favorable as a majority of cases will respond to conservative management. phenio_relaxed_subqs.owl MONDO:0021905 biolink:NamedThing apert-like polydactyly syndrome phenio_relaxed_subqs.owl MONDO:0021915 biolink:NamedThing arakawa syndrome 2 A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly. phenio_relaxed_subqs.owl MONDO:0021918 biolink:NamedThing arena syndrome phenio_relaxed_subqs.owl MONDO:0021921 biolink:NamedThing Arnold stickler bourne syndrome phenio_relaxed_subqs.owl MONDO:0021962 biolink:NamedThing baetz-greenwalt syndrome phenio_relaxed_subqs.owl MONDO:0021964 biolink:NamedThing bagatelle Cassidy syndrome phenio_relaxed_subqs.owl MONDO:0021966 biolink:NamedThing baker Vinters syndrome A very rare syndrome characterized by craniosynostosis (premature fusion of skull bones), hydrocephalus (an abnormal increase of cerebrospinal fluid in the ventricles of the brain) and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles. This is an n-of-1 use case where only one patient or family has been described with this disorder. phenio_relaxed_subqs.owl MONDO:0021969 biolink:NamedThing Banti syndrome A syndrome characterized by hypochromic anemia with leukopenia, splenomegaly, late onset hepatic cirrhosis and death from gastric hemorrhages. phenio_relaxed_subqs.owl MONDO:0022011 biolink:NamedThing bobble-head doll syndrome Bobble-head doll syndrome (BHDS) is a rare neurological condition thatis typically first seen in childhood. The signs and symptoms of BHDS includecharacteristic up and downhead movements that increase during walking and excitement and decrease during concentration.Although the specific cause of this condition is unknown, BHDS is often seen with cysts in the third ventricle of the brain that alsocause hydrocephalus (water on the brain). Treatment for BHDS may involve surgical removal of the cyst causing the condition or using a shunt to drain excess water on the brain. phenio_relaxed_subqs.owl MONDO:0022013 biolink:NamedThing Boerhaave syndrome A syndrome characterized by spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part. phenio_relaxed_subqs.owl MONDO:0022018 biolink:NamedThing Borrone di Rocco Crovato syndrome phenio_relaxed_subqs.owl MONDO:0022070 biolink:NamedThing Cantu sanchez-corona hernandez syndrome Mild mental deficiency, short stature, macrocranium, cardiac anomalies, cutis laxa, peculiar facies, wrinkled palms and soles, small vertebral bodies phenio_relaxed_subqs.owl MONDO:0022071 biolink:NamedThing carbon baby syndrome Carbon baby syndrome, also known as universal acquired melanosis, is a rare form of hyperpigmentation. The skin of affected infants progressively darkens over the first years of life in the absence of other symptoms. The cause of the condition is unknown. phenio_relaxed_subqs.owl MONDO:0022089 biolink:NamedThing Carnevale hernandez castillo syndrome phenio_relaxed_subqs.owl MONDO:0022140 biolink:NamedThing Charles bonnet syndrome Charles Bonnet syndrome (CBS) refers to the presenceof visual hallucinations in individuals with visual acuity loss without havingpsychosis or dementia. The condition is likely caused by the brain continuing to interpret images, even in their absence. Underlying conditions of vision loss associated with Charles Bonnet syndrome are diverse (including conditions such as macular degeneration and stroke) and may affect the eye, optic nerve, or brain. Hallucinations often resolve if the underlying vision deficit is corrected and can also remit in some individuals with static or progressive vision loss. Treatment is individualized. phenio_relaxed_subqs.owl MONDO:0022220 biolink:NamedThing Parinaud syndrome A rare syndrome affecting conjugate vertical eye movement. It is often caused by a dorsal midbrain neoplasm, commonly a pinealoma, but may also be attributable to demyelinating diseases or stroke. Clinical signs include limitation of upward gaze, light-near dissociation of the pupillary response, eyelid retraction (Collier's sign) and convergence-retraction nystagmus. Clinical course is dependent on effective treatment of underlying cause. phenio_relaxed_subqs.owl MONDO:0022337 biolink:NamedThing AIDS dysmorphic syndrome phenio_relaxed_subqs.owl MONDO:0022357 biolink:NamedThing congenital acardia phenio_relaxed_subqs.owl MONDO:0022380 biolink:NamedThing acute lymphoblastic leukemia congenital sporadic aniridia A disease characterized by acute lymphoblastic leukemia with the presence of congenital sporadic aniridia, the absence of an iris, where neither parent has aniridia. phenio_relaxed_subqs.owl MONDO:0022398 biolink:NamedThing aglossia and situs inversus A disease characterized by complete absence of tongue that can also be associated with limb deformities, syndromes and aberrant positioning of the visceral organs. phenio_relaxed_subqs.owl MONDO:0022401 biolink:NamedThing agyria pachygyria polymicrogyria Cortical malformations characterized by no gyri, broad gyri and/or an excessive number of abnormally small gyri that result in an irregular cortical surface with lumpy aspect. phenio_relaxed_subqs.owl MONDO:0022402 biolink:NamedThing agyria-pachygyria type 1 A disorder of neuronal migration that is characterized by abnormal cortex morphology, with pathological features including a variably decreased brain size, enlarged ventricles representing a stage of fetal development rather than hydrocephalus, heterotopia of the inferior olivary bodies that lie between the corpus pontobulbare and their normal location, aberrant or absent corticospinal tract, heterotopia of cerebellar granules and abnormally shaped dentate nuclei. phenio_relaxed_subqs.owl MONDO:0022403 biolink:NamedThing Ahumada Del Castillo syndrome A syndrome characterized by galactorrhea and amenorrhea with symptoms of estrogenic insufficiency and absence of urinary gonadotropins. phenio_relaxed_subqs.owl MONDO:0022413 biolink:NamedThing Albright-like syndrome phenio_relaxed_subqs.owl MONDO:0022414 biolink:NamedThing allain-babin-demarquez syndrome phenio_relaxed_subqs.owl MONDO:0022417 biolink:NamedThing alopecia congenita keratosis palmoplantaris phenio_relaxed_subqs.owl MONDO:0022425 biolink:NamedThing alpha-thalassemia-abnormal morphogenesis phenio_relaxed_subqs.owl MONDO:0022428 biolink:NamedThing aluminosis Aluminosis is characterized as diffuse interstitial fibrosis which is mainly located in the upper and middle lobes of the lung. In advanced stages it is characterized by subpleural bullous emphysema with an increased risk of spontaneous pneumothorax. phenio_relaxed_subqs.owl MONDO:0022435 biolink:NamedThing Mauriac syndrome A complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and Cushingoid features. phenio_relaxed_subqs.owl MONDO:0022456 biolink:NamedThing ankle defects short stature phenio_relaxed_subqs.owl MONDO:0022457 biolink:NamedThing ankyloblepharon filiforme imperforate anus phenio_relaxed_subqs.owl MONDO:0022458 biolink:NamedThing annular constricting bands A syndrome characterized by congenital constriction bands, often deformity of the nails with distally located bands, and commonly a malformation of the hand. phenio_relaxed_subqs.owl MONDO:0022461 biolink:NamedThing anophthalmia cleft palate micrognathia A syndrome characterized by bilateral anophthalmos, hypospadias, bifid scrotum, micrognathia, and cleft palate with normal chromosomes. phenio_relaxed_subqs.owl MONDO:0022462 biolink:NamedThing anophthalmia esophageal atresia cryptorchidism A syndrome characterized by bilateral anophthalmia, esophageal atresia, and cryptorchidism. This is an n-of-1 use case where only one patient or family has been described with this disorder. phenio_relaxed_subqs.owl MONDO:0022465 biolink:NamedThing anotia facial palsy cardiac defect A syndrome characterized by anotia (congenital absence of the pinna) with a normal cochlea and vestibular apparatus, with facial paralysis caused by congenital absence of the entire right facial nerve, and congenital heart disease, which may present as atrioventricular septal defects or variations of tetralogy of Fallot. phenio_relaxed_subqs.owl MONDO:0022470 biolink:NamedThing aortic dissection lentiginosis A syndrome characterized by arterial dissections, multiple lentigines, and cystic medial necrosis. phenio_relaxed_subqs.owl MONDO:0022471 biolink:NamedThing childhood aortic valve stenosis phenio_relaxed_subqs.owl MONDO:0022496 biolink:NamedThing arthrogryposis IUGR thoracic dystrophy A syndrome characterized by severe intrauterine growth retardation, psychomotor delay and recurrent infections, craniofacial dysostosis, a progeroid appearance, arthrogryposis and camptodactylia. phenio_relaxed_subqs.owl MONDO:0022500 biolink:NamedThing arthrogryposis multiplex congenita CNS calcification A syndrome characterized by congenital contractures, scarce facial expressions, central nervous system dysfunction, and early death, as well as extensive deposits of calcium compounds in the nervous system and of skeletal muscle. phenio_relaxed_subqs.owl MONDO:0022504 biolink:NamedThing arthrogryposis spinal muscular atrophy phenio_relaxed_subqs.owl MONDO:0022509 biolink:NamedThing asternia Asternia, also known as a complete congenital sternal cleft, is a condition in which a bone called thesternum does not form properly.The sternumusuallyconnects to the ribs to form the ribcage. Individuals with asternia are missing this bone and may appear to have a rut or trench under the skin in the middle of the chest. Most individuals with asternia have no symptoms, though some may have difficulty breathing. Asternia is sometimes associated with other conditions, such as heart problems. The cause of asternia is currently unknown. Treatment consists of surgery to close the gap between the ribs. phenio_relaxed_subqs.owl MONDO:0022510 biolink:NamedThing atlanto-axial fusion phenio_relaxed_subqs.owl MONDO:0022513 biolink:NamedThing atrophoderma of Pierini and Pasini Atrophoderma of Pierini and Pasini is thought to possibly represent a late stage of morphea a type of localized scleroderma. Signs and symptoms ofatrophoderma of Pierini and Pasini include multiple oval, darkened (hyperpigmented) plaques in which tissue under the skin breaks downso that there is a depression (dent) within the skin. Some findings suggest that atrophoderma of Pierini and Pasini may be associated with B burgdorferi, a bacteria that causesLyme disease, in some cases. phenio_relaxed_subqs.owl MONDO:0022545 biolink:NamedThing Barnicoat Baraitser syndrome phenio_relaxed_subqs.owl MONDO:0022551 biolink:NamedThing Basedow's coma A polygenic and multifactorial disease that develops as a result of a complex interplay between genetic susceptibility and environmental and endogenous factors, which leads to the loss of immune tolerance to thyroid antigens and in particular to the TSH receptor. phenio_relaxed_subqs.owl MONDO:0022553 biolink:NamedThing BD syndrome phenio_relaxed_subqs.owl MONDO:0022555 biolink:NamedThing Beardwell syndrome phenio_relaxed_subqs.owl MONDO:0022568 biolink:NamedThing bidirectional tachycardia phenio_relaxed_subqs.owl MONDO:0022575 biolink:NamedThing biliary hypoplasia A syndromic disease characterised by a small ductal system and reduction in the number of interlobular bile ducts. phenio_relaxed_subqs.owl MONDO:0022576 biolink:NamedThing bilirubin induced brain injury in the newborn phenio_relaxed_subqs.owl MONDO:0022577 biolink:NamedThing Billet bear syndrome A congenital malformation syndrome characterized by partial duplication of the left lower limb and aplasia of the ipsilateral kidney, plus other congenital malformations. phenio_relaxed_subqs.owl MONDO:0022580 biolink:NamedThing blepharo naso facial syndrome van Maldergem type A syndrome characterized by expressionless facies, thickened facial skin, telecanthus with blepharophimosis, lacrimal duct anomalies, unusual nasal shape, and mild excess interdigital webbing. phenio_relaxed_subqs.owl MONDO:0022587 biolink:NamedThing bone dysplasia corpus callosum agenesis phenio_relaxed_subqs.owl MONDO:0022598 biolink:NamedThing brachydactyly absence of distal phalanges phenio_relaxed_subqs.owl MONDO:0022599 biolink:NamedThing brachydactyly anonychia phenio_relaxed_subqs.owl MONDO:0022602 biolink:NamedThing brachydactyly small stature face anomalies phenio_relaxed_subqs.owl MONDO:0022603 biolink:NamedThing brachydactyly tibial hypoplasia phenio_relaxed_subqs.owl MONDO:0022608 biolink:NamedThing brittle bone syndrome lethal type phenio_relaxed_subqs.owl MONDO:0022610 biolink:NamedThing bronchiectasis oligospermia phenio_relaxed_subqs.owl MONDO:0022612 biolink:NamedThing Brunsting-Perry syndrome phenio_relaxed_subqs.owl MONDO:0022613 biolink:NamedThing bruyn scheltens syndrome phenio_relaxed_subqs.owl MONDO:0022615 biolink:NamedThing burn goodship syndrome phenio_relaxed_subqs.owl MONDO:0022633 biolink:NamedThing camptodactyly joint contractures and facial skeletal dysplasia phenio_relaxed_subqs.owl MONDO:0022634 biolink:NamedThing camptodactyly vertebral fusion phenio_relaxed_subqs.owl MONDO:0022639 biolink:NamedThing Cantu sanchez-corona Garcia-Cruz syndrome phenio_relaxed_subqs.owl MONDO:0022644 biolink:NamedThing cardiac hydatid cysts with intracavitary expansion phenio_relaxed_subqs.owl MONDO:0022645 biolink:NamedThing cardioencephalomyopathy phenio_relaxed_subqs.owl MONDO:0022646 biolink:NamedThing cardiofacial syndrome short limbs phenio_relaxed_subqs.owl MONDO:0022647 biolink:NamedThing cardiomelic syndrome stratton Koehler type phenio_relaxed_subqs.owl MONDO:0022648 biolink:NamedThing cardiomyopathy and deafness due to tRNA lysine gene mutation A specific change in the MTTK gene causes a condition characterized by weakened heart muscle (cardiomyopathy) and hearing loss. Affected individuals may also have myopathy and ataxia. This mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration in the MTTK gene results in cardiomyopathy, hearing loss, and other symptoms. phenio_relaxed_subqs.owl MONDO:0022650 biolink:NamedThing cardiomyopathy diabetes deafness phenio_relaxed_subqs.owl MONDO:0022654 biolink:NamedThing cardiomyopathy hypogonadism collagenoma syndrome phenio_relaxed_subqs.owl MONDO:0022656 biolink:NamedThing cardiomyopathy spherocytosis phenio_relaxed_subqs.owl MONDO:0022662 biolink:NamedThing carpo tarsal osteolysis recessive phenio_relaxed_subqs.owl MONDO:0022666 biolink:NamedThing cassavism phenio_relaxed_subqs.owl MONDO:0022675 biolink:NamedThing cataract skeletal anomalies phenio_relaxed_subqs.owl MONDO:0022682 biolink:NamedThing cennamo gangemi syndrome phenio_relaxed_subqs.owl MONDO:0022685 biolink:NamedThing cerebellar agenesis phenio_relaxed_subqs.owl MONDO:0022691 biolink:NamedThing cerebello-olivary atrophy phenio_relaxed_subqs.owl MONDO:0022693 biolink:NamedThing cerebral calcification cerebellar hypoplasia phenio_relaxed_subqs.owl MONDO:0022694 biolink:NamedThing cerebral calcifications opalescent teeth phosphaturia phenio_relaxed_subqs.owl MONDO:0022712 biolink:NamedThing oculo digital syndrome phenio_relaxed_subqs.owl MONDO:0022723 biolink:NamedThing chondrodysplasia phenio_relaxed_subqs.owl MONDO:0022733 biolink:NamedThing choreoacanthocytosis amyotrophic phenio_relaxed_subqs.owl MONDO:0022734 biolink:NamedThing chorioretinopathy dominant form microcephaly phenio_relaxed_subqs.owl MONDO:0022739 biolink:NamedThing Christian demyer franken syndrome phenio_relaxed_subqs.owl MONDO:0022740 biolink:NamedThing Christian Johnson angenieta syndrome phenio_relaxed_subqs.owl MONDO:0022761 biolink:NamedThing chromosome 3 duplication syndrome phenio_relaxed_subqs.owl MONDO:0022765 biolink:NamedThing chronic demyelinizing neuropathy with IgM monoclonal phenio_relaxed_subqs.owl MONDO:0022769 biolink:NamedThing ciliary dyskinesia-bronchiectasis phenio_relaxed_subqs.owl MONDO:0022770 biolink:NamedThing circumscribed cutaneous aplasia of the vertex phenio_relaxed_subqs.owl MONDO:0022771 biolink:NamedThing circumscribed disseminated keratosis Jadassohn lew type phenio_relaxed_subqs.owl MONDO:0022775 biolink:NamedThing cleft lip and palate malrotation cardiopathy phenio_relaxed_subqs.owl MONDO:0022776 biolink:NamedThing cleft lip and/or palate with mucous cysts of lower phenio_relaxed_subqs.owl MONDO:0022777 biolink:NamedThing cleft lip palate dysmorphism kumar type phenio_relaxed_subqs.owl MONDO:0022778 biolink:NamedThing cleft lip palate intellectual disability corneal opacity phenio_relaxed_subqs.owl MONDO:0022779 biolink:NamedThing cleft lip palate oligodontia syndactyly pili torti phenio_relaxed_subqs.owl MONDO:0022780 biolink:NamedThing cleft lip palate pituitary deficiency phenio_relaxed_subqs.owl MONDO:0022781 biolink:NamedThing cleft lip palate-tetraphocomelia phenio_relaxed_subqs.owl MONDO:0022782 biolink:NamedThing cleft lower lip cleft lateral canthi chorioretinal phenio_relaxed_subqs.owl MONDO:0022785 biolink:NamedThing cleft palate cardiac defect ectrodactyly phenio_relaxed_subqs.owl MONDO:0022786 biolink:NamedThing cleft palate colobomata radial synostosis deafness phenio_relaxed_subqs.owl MONDO:0022787 biolink:NamedThing cleft palate heart disease polydactyly absent tibia phenio_relaxed_subqs.owl MONDO:0022790 biolink:NamedThing cleft tongue phenio_relaxed_subqs.owl MONDO:0022791 biolink:NamedThing coarse face hypotonia constipation phenio_relaxed_subqs.owl MONDO:0022798 biolink:NamedThing Cohen lockood wyborney syndrome phenio_relaxed_subqs.owl MONDO:0022802 biolink:NamedThing Collins-Sakati syndrome phenio_relaxed_subqs.owl MONDO:0022803 biolink:NamedThing coloboma porencephaly hydronephrosis phenio_relaxed_subqs.owl MONDO:0022804 biolink:NamedThing colobomata unilobar lung heart defect phenio_relaxed_subqs.owl MONDO:0022805 biolink:NamedThing colonic malakoplakia phenio_relaxed_subqs.owl MONDO:0022809 biolink:NamedThing Colver Steer Godman syndrome phenio_relaxed_subqs.owl MONDO:0022810 biolink:NamedThing Combarros Calleja Leno syndrome phenio_relaxed_subqs.owl MONDO:0022812 biolink:NamedThing complement receptor deficiency A disorder with basis in disruption of a complement receptor. phenio_relaxed_subqs.owl MONDO:0022815 biolink:NamedThing congenital absence of the sternocleidomastoid muscle phenio_relaxed_subqs.owl MONDO:0022817 biolink:NamedThing congenital amputation phenio_relaxed_subqs.owl MONDO:0022818 biolink:NamedThing congenital aneurysms of the great vessels phenio_relaxed_subqs.owl MONDO:0022819 biolink:NamedThing congenital arteriovenous shunt phenio_relaxed_subqs.owl MONDO:0022820 biolink:NamedThing congenital articular rigidity phenio_relaxed_subqs.owl MONDO:0022821 biolink:NamedThing congenital benign spinal muscular atrophy dominant phenio_relaxed_subqs.owl MONDO:0022822 biolink:NamedThing congenital cardiovascular shunt phenio_relaxed_subqs.owl MONDO:0022823 biolink:NamedThing congenital contractures phenio_relaxed_subqs.owl MONDO:0022824 biolink:NamedThing congenital craniosynostosis maternal hyperthyroiditis phenio_relaxed_subqs.owl MONDO:0022825 biolink:NamedThing congenital cystic eye phenio_relaxed_subqs.owl MONDO:0022831 biolink:NamedThing congenital heart disease ptosis hypodontia craniostosis phenio_relaxed_subqs.owl MONDO:0022832 biolink:NamedThing congenital heart disease radio ulnar synostosis intellectual disability phenio_relaxed_subqs.owl MONDO:0022849 biolink:NamedThing congenital stenosis of cervical medullary canal phenio_relaxed_subqs.owl MONDO:0022851 biolink:NamedThing Dennis-Fairhurst-Moore syndrome A severe form of Hallermann-Streiff syndrome, observed in one family. This is an n-of-1 use case where only one patient or family has been described with this disorder. phenio_relaxed_subqs.owl MONDO:0022854 biolink:NamedThing congenital unilateral pulmonary hypoplasia phenio_relaxed_subqs.owl MONDO:0022855 biolink:NamedThing congenital vagal hyperreflexivity phenio_relaxed_subqs.owl MONDO:0022858 biolink:NamedThing continuous spike-wave during slow sleep syndrome phenio_relaxed_subqs.owl MONDO:0022862 biolink:NamedThing cormier rustin munnich syndrome phenio_relaxed_subqs.owl MONDO:0022863 biolink:NamedThing corneal crystals myopathy neuropathy phenio_relaxed_subqs.owl MONDO:0022865 biolink:NamedThing corneal dystrophy ichthyosis microcephaly intellectual disability phenio_relaxed_subqs.owl MONDO:0022866 biolink:NamedThing corneal dystrophy pigmentary anomaly malabsorption phenio_relaxed_subqs.owl MONDO:0022869 biolink:NamedThing coronary arteries congenital malformation phenio_relaxed_subqs.owl MONDO:0022871 biolink:NamedThing corpus callosum agenesis of blepharophimosis robin type phenio_relaxed_subqs.owl MONDO:0022872 biolink:NamedThing corpus callosum dysgenesis X-linked recessive phenio_relaxed_subqs.owl MONDO:0022873 biolink:NamedThing corpus callosum dysgenesis cleft spasm phenio_relaxed_subqs.owl MONDO:0022874 biolink:NamedThing corpus callosum dysgenesis hypopituitarism phenio_relaxed_subqs.owl MONDO:0022875 biolink:NamedThing cortada Koussef Matsumoto syndrome phenio_relaxed_subqs.owl MONDO:0022876 biolink:NamedThing Cortes Lacassie syndrome phenio_relaxed_subqs.owl MONDO:0022880 biolink:NamedThing corticobasal degeneration phenio_relaxed_subqs.owl MONDO:0022883 biolink:NamedThing craniofacial and skeletal defects phenio_relaxed_subqs.owl MONDO:0022884 biolink:NamedThing craniofacial dysostosis arthrogryposis progeroid appearence phenio_relaxed_subqs.owl MONDO:0022887 biolink:NamedThing craniofrontonasal syndrome Teebi type phenio_relaxed_subqs.owl MONDO:0022889 biolink:NamedThing craniostenosis with congenital heart disease intellectual disability phenio_relaxed_subqs.owl MONDO:0022899 biolink:NamedThing crawfurd syndrome phenio_relaxed_subqs.owl MONDO:0022908 biolink:NamedThing cutis gyratum acanthosis nigricans craniosynostosis phenio_relaxed_subqs.owl MONDO:0022909 biolink:NamedThing cutis laxa osteoporosis phenio_relaxed_subqs.owl MONDO:0022913 biolink:NamedThing cutler bass Romshe syndrome phenio_relaxed_subqs.owl MONDO:0022936 biolink:NamedThing de Hauwere Leroy adriaenssens syndrome phenio_relaxed_subqs.owl MONDO:0022937 biolink:NamedThing deafness conductive stapedial ear malformation facial palsy phenio_relaxed_subqs.owl MONDO:0022938 biolink:NamedThing deafness goiter stippled epiphyses phenio_relaxed_subqs.owl MONDO:0022941 biolink:NamedThing deafness hypospadias metacarpal and metatarsal syndrome phenio_relaxed_subqs.owl MONDO:0022942 biolink:NamedThing deafness mesenteric diverticula of small bowel neuropathy phenio_relaxed_subqs.owl MONDO:0022945 biolink:NamedThing deafness peripheral neuropathy arterial disease phenio_relaxed_subqs.owl MONDO:0022946 biolink:NamedThing deafness progressive cataract autosomal dominant phenio_relaxed_subqs.owl MONDO:0022960 biolink:NamedThing dermatocardioskeletal syndrome boronne type phenio_relaxed_subqs.owl MONDO:0022968 biolink:NamedThing dextrocardia with situs inversus Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdominal cavity. Some affected people have no obvious signs or symptoms. However, a small percentage of people also have congenital heart defects, usually transposition of the great vessels. Dextrocardia with situs inversus can also be associated with primary ciliary dyskinesia (also known as Kartagener syndrome). Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus. phenio_relaxed_subqs.owl MONDO:0022971 biolink:NamedThing diabetes persistent mullerian ducts phenio_relaxed_subqs.owl MONDO:0022975 biolink:NamedThing diaphragmatic agenesis radial aplasia omphalocele phenio_relaxed_subqs.owl MONDO:0022977 biolink:NamedThing diaphragmatic hernia exomphalos corpus callosum agenesis phenio_relaxed_subqs.owl MONDO:0022978 biolink:NamedThing diaphragmatic hernia upper limb defects phenio_relaxed_subqs.owl MONDO:0022981 biolink:NamedThing die Smulders droog van dijk syndrome phenio_relaxed_subqs.owl MONDO:0022982 biolink:NamedThing die Smulders Vles Fryns syndrome phenio_relaxed_subqs.owl MONDO:0022989 biolink:NamedThing diomedi bernardi placidi syndrome phenio_relaxed_subqs.owl MONDO:0022990 biolink:NamedThing diphallus rachischisis imperforate anus phenio_relaxed_subqs.owl MONDO:0022999 biolink:NamedThing distichiasis heart congenital anomalies phenio_relaxed_subqs.owl MONDO:0023002 biolink:NamedThing double discordia phenio_relaxed_subqs.owl MONDO:0023005 biolink:NamedThing double uterus-hemivagina-renal agenesis phenio_relaxed_subqs.owl MONDO:0023007 biolink:NamedThing Drachtman Weinblatt Sitarz syndrome A rare genetic disorder, characterized by under-development of bone marrow and neurological disorders such as weakness on one side of the body, agenesis of corpus callosum and hydrocephalus. phenio_relaxed_subqs.owl MONDO:0023013 biolink:NamedThing Duker-Weiss-Siber syndrome phenio_relaxed_subqs.owl MONDO:0023015 biolink:NamedThing duodenal atresia tetralogy of fallot phenio_relaxed_subqs.owl MONDO:0023016 biolink:NamedThing duplication of leg mirror foot phenio_relaxed_subqs.owl MONDO:0023017 biolink:NamedThing duplication of the thumb unilateral biphalangeal phenio_relaxed_subqs.owl MONDO:0023018 biolink:NamedThing dupont sellier chochillon syndrome phenio_relaxed_subqs.owl MONDO:0023019 biolink:NamedThing dwarfism bluish sclerae phenio_relaxed_subqs.owl MONDO:0023020 biolink:NamedThing dwarfism deafness retinitis pigmentosa phenio_relaxed_subqs.owl MONDO:0023021 biolink:NamedThing dwarfism lethal type advanced bone age phenio_relaxed_subqs.owl MONDO:0023022 biolink:NamedThing dwarfism thin bones multiple fractures phenio_relaxed_subqs.owl MONDO:0023030 biolink:NamedThing dysmorphism cleft palate loose skin phenio_relaxed_subqs.owl MONDO:0023035 biolink:NamedThing Eagle syndrome Eagle syndrome is characterized by recurrent pain in the middle part of the throat (oropharynx) and face. 'Classic Eagle syndrome' is typically seen in patients after throat trauma or tonsillectomy. Symptoms include dull and persistent throat pain that may radiate to the ear and worsen with rotation of the head. Other symptoms may include difficulty swallowing, feeling that there is something stuck in the throat, tinnitus, and neck or facial pain. A second form of Eagle syndrome unrelated to tonsillectomy causes compression of the vessel that carries blood to the brain, neck, and face (carotid artery). This form can cause headache. Eagle syndrome is due to a calcified stylohyoid ligament or an elongated styloid process. The styloid process is a pointed part of the temporal bone that serves as an anchor point for several muscles associated with the tongue and larynx. The mainstay treatment for Eagle syndrome is surgery to shorten the styloid process (styloidectomy). Medical management may include the use of pain and anti-inflammatory medications, antidepressants, and/or steroids. The overall success rate for treatment (medical or surgical) is about 80%. phenio_relaxed_subqs.owl MONDO:0023038 biolink:NamedThing eccentrochondrodysplasia phenio_relaxed_subqs.owl MONDO:0023050 biolink:NamedThing ectrodactyly cardiopathy dysmorphism phenio_relaxed_subqs.owl MONDO:0023061 biolink:NamedThing enamel hypoplasia cataract hydrocephaly phenio_relaxed_subqs.owl MONDO:0023062 biolink:NamedThing encephalocele anencephaly phenio_relaxed_subqs.owl MONDO:0023066 biolink:NamedThing enchondromatosis dwarfism deafness phenio_relaxed_subqs.owl MONDO:0023068 biolink:NamedThing engelhard yatziv syndrome phenio_relaxed_subqs.owl MONDO:0023069 biolink:NamedThing enlarged vestibular aqueduct syndrome phenio_relaxed_subqs.owl MONDO:0023079 biolink:NamedThing epidermal nevus vitamin D resistant rickets phenio_relaxed_subqs.owl MONDO:0023083 biolink:NamedThing epimetaphyseal dysplasia cataract phenio_relaxed_subqs.owl MONDO:0023084 biolink:NamedThing epiphyseal dysplasia dysmorphism camptodactyly phenio_relaxed_subqs.owl MONDO:0023091 biolink:NamedThing esophageal atresia coloboma talipes phenio_relaxed_subqs.owl MONDO:0023098 biolink:NamedThing extrasystoles short stature hyperpigmentation microcephaly phenio_relaxed_subqs.owl MONDO:0023100 biolink:NamedThing facial clefting corpus callosum agenesis phenio_relaxed_subqs.owl MONDO:0023101 biolink:NamedThing facio digito genital syndrome recessive form phenio_relaxed_subqs.owl MONDO:0023102 biolink:NamedThing facio skeletal genital syndrome rippberger type phenio_relaxed_subqs.owl MONDO:0023111 biolink:NamedThing familial capillaro-venous leptomeningeal angiomatosis phenio_relaxed_subqs.owl MONDO:0023124 biolink:NamedThing familial pulmonary arterial hypertension leucopenia and atrial septal defect phenio_relaxed_subqs.owl MONDO:0023133 biolink:NamedThing Faye-Petersen-Ward-Carey syndrome phenio_relaxed_subqs.owl MONDO:0023137 biolink:NamedThing feigenbaum Bergeron syndrome phenio_relaxed_subqs.owl MONDO:0023138 biolink:NamedThing Feingold trainer syndrome phenio_relaxed_subqs.owl MONDO:0023140 biolink:NamedThing fenton Wilkinson Toselano syndrome phenio_relaxed_subqs.owl MONDO:0023142 biolink:NamedThing fetal brain disruption sequence phenio_relaxed_subqs.owl MONDO:0023147 biolink:NamedThing fetal parainfluenza virus type 3 syndrome A syndrome caused by HPIV-3. phenio_relaxed_subqs.owl MONDO:0023148 biolink:NamedThing fetal phenothiazine syndrome phenio_relaxed_subqs.owl MONDO:0023154 biolink:NamedThing fibromatosis multiple non ossifying phenio_relaxed_subqs.owl MONDO:0023155 biolink:NamedThing fibula aplasia complex brachydactyly phenio_relaxed_subqs.owl MONDO:0023157 biolink:NamedThing fibular hypoplasia scapulo pelvic dysplasia absent phenio_relaxed_subqs.owl MONDO:0023158 biolink:NamedThing Fitz-Hugh-Curtis syndrome Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge -are oftenpresent as well. FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PIDprogresses toFHCS in some women. Fitz-Hugh-Curtis syndrome is treatedwith antibiotics. phenio_relaxed_subqs.owl MONDO:0023167 biolink:NamedThing focal alopecia congenital megalencephaly phenio_relaxed_subqs.owl MONDO:0023170 biolink:NamedThing focal or multifocal malformations in neuronal migration phenio_relaxed_subqs.owl MONDO:0023171 biolink:NamedThing foix chavany Marie syndrome Foix-Chavany-Marie syndrome (FCMS) is a cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved. phenio_relaxed_subqs.owl MONDO:0023175 biolink:NamedThing Fontaine farriaux blanckaert syndrome phenio_relaxed_subqs.owl MONDO:0023186 biolink:NamedThing Fraser Jequier Chen syndrome phenio_relaxed_subqs.owl MONDO:0023188 biolink:NamedThing Freiberg disease Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of Freiberg's disease is currently unknown. Treatment depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient. phenio_relaxed_subqs.owl MONDO:0023193 biolink:NamedThing Friedman Goodman syndrome phenio_relaxed_subqs.owl MONDO:0023194 biolink:NamedThing frints de Smet Fabry Fryns syndrome phenio_relaxed_subqs.owl MONDO:0023196 biolink:NamedThing frontonasal malformation cloacal exstrophy phenio_relaxed_subqs.owl MONDO:0023197 biolink:NamedThing frontonasal dysplasia Klippel feil syndrome phenio_relaxed_subqs.owl MONDO:0023199 biolink:NamedThing frontonasal dysplasia phocomelic upper limbs phenio_relaxed_subqs.owl MONDO:0023200 biolink:NamedThing Fryns Fabry Remans syndrome phenio_relaxed_subqs.owl MONDO:0023201 biolink:NamedThing Fryns Smeets Thiry syndrome phenio_relaxed_subqs.owl MONDO:0023203 biolink:NamedThing Fuchs atrophia gyrata chorioideae et retinae phenio_relaxed_subqs.owl MONDO:0023204 biolink:NamedThing Fukuda-Miyanomae-Nakata syndrome phenio_relaxed_subqs.owl MONDO:0023208 biolink:NamedThing Fuqua Berkovitz syndrome phenio_relaxed_subqs.owl MONDO:0023212 biolink:NamedThing Garret-Tripp syndrome phenio_relaxed_subqs.owl MONDO:0023214 biolink:NamedThing gas bloat syndrome phenio_relaxed_subqs.owl MONDO:0023221 biolink:NamedThing Gaucher ichthyosis restrictive dermopathy phenio_relaxed_subqs.owl MONDO:0023226 biolink:NamedThing gershinibaruch Leibo syndrome phenio_relaxed_subqs.owl MONDO:0023230 biolink:NamedThing Ghose-Sachdev-Kumar syndrome phenio_relaxed_subqs.owl MONDO:0023240 biolink:NamedThing gigantism advanced bone age hoarse cry phenio_relaxed_subqs.owl MONDO:0023255 biolink:NamedThing glossopalatine ankylosis micrognathia ear anomalies phenio_relaxed_subqs.owl MONDO:0023267 biolink:NamedThing goldstein hutt syndrome phenio_relaxed_subqs.owl MONDO:0023272 biolink:NamedThing goniodysgenesis intellectual disability short stature phenio_relaxed_subqs.owl MONDO:0023288 biolink:NamedThing green sandford davison syndrome phenio_relaxed_subqs.owl MONDO:0023290 biolink:NamedThing grix Blankenship Peterson syndrome phenio_relaxed_subqs.owl MONDO:0023368 biolink:NamedThing Ho-Kaufman-McAlister syndrome Cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet phenio_relaxed_subqs.owl MONDO:0023540 biolink:NamedThing Kashani-Strom-Utley syndrome phenio_relaxed_subqs.owl MONDO:0023541 biolink:NamedThing Kasznica-Carlson-Coppedge syndrome phenio_relaxed_subqs.owl MONDO:0023567 biolink:NamedThing Kozlowski Brown Hardwick syndrome phenio_relaxed_subqs.owl MONDO:0023569 biolink:NamedThing Kozlowski Ouvrier syndrome phenio_relaxed_subqs.owl MONDO:0023573 biolink:NamedThing Kozlowski Warren Fisher syndrome phenio_relaxed_subqs.owl MONDO:0023575 biolink:NamedThing Krauss Herman Holmes syndrome phenio_relaxed_subqs.owl MONDO:0023577 biolink:NamedThing Krieble Bixler syndrome phenio_relaxed_subqs.owl MONDO:0023579 biolink:NamedThing Kuster Majewski Hammerstein syndrome phenio_relaxed_subqs.owl MONDO:0023581 biolink:NamedThing Kuster syndrome phenio_relaxed_subqs.owl MONDO:0023605 biolink:NamedThing Laugier-Hunziker syndrome phenio_relaxed_subqs.owl MONDO:0023607 biolink:NamedThing Laurence-Prosser-Rocker syndrome phenio_relaxed_subqs.owl MONDO:0023609 biolink:NamedThing le Marec-Bracq-Picaud syndrome phenio_relaxed_subqs.owl MONDO:0023628 biolink:NamedThing levator syndrome Levator syndrome is characterized by sporadic pain in the rectum caused by spasm of a muscle near the anus (the levator ani muscle). The muscle spasm causes pain that typically is not related to defecation. The pain usually lasts less than 20 minutes. Pain may be brief and intense or a vague ache high in the rectum. It may occur spontaneously or with sitting and can waken a person from sleep. The pain may feel as if it would be relieved by the passage of gas or a bowel movement. In severe cases, the pain can persist for many hours and can recur frequently. A person may have undergone various unsuccessful rectal operations to relieve these symptoms. phenio_relaxed_subqs.owl MONDO:0023809 biolink:NamedThing Milner-Khallouf-Gibson syndrome phenio_relaxed_subqs.owl MONDO:0024171 biolink:NamedThing radio-digito-facial dysplasia phenio_relaxed_subqs.owl MONDO:0024234 biolink:NamedThing Seckel like syndrome majoor-krakauer type phenio_relaxed_subqs.owl MONDO:0024263 biolink:NamedThing neonatal aspiration syndrome Aspiration of meconium, blood, amniotic fluid or gastric contents around the time of delivery resulting in clinical symptoms from airway obstruction, parenchymal injury, and ventilation-perfusion mismatch. This may lead to persistent pulmonary hypertension in the newborn. phenio_relaxed_subqs.owl MONDO:0024418 biolink:NamedThing muscular fibrosis multifocal obstructed vessels phenio_relaxed_subqs.owl MONDO:0024421 biolink:NamedThing short stature contractures hypotonia phenio_relaxed_subqs.owl MONDO:0024429 biolink:NamedThing Alice in Wonderland syndrome A disorienting neuropsychological condition that affects perception. People experience size distortion such as micropsia, macropsia, pelopsia, or teleopsia. Size distortion may occur of other sensory modalities. phenio_relaxed_subqs.owl MONDO:0034204 biolink:NamedThing syndromic congenital sodium diarrhea phenio_relaxed_subqs.owl MONDO:0034895 biolink:NamedThing congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period. phenio_relaxed_subqs.owl MONDO:0035018 biolink:NamedThing frontonasal dysplasia-bifid nose-upper limb anomalies syndrome A rare syndromic frontonasal dysplasia characterized by distinctive facial dysmorphic features including hypertelorism, almond-shaped palpebral fissures, nasal deformity with creased ridge, depressed or absent tip, and asymmetry and partial absence of nasal bones, and downturned corners of the mouth. Additional reported manifestations are limb anomalies (e. g. Poland anomaly, transverse limb agenesis, and anomalies of the hands and feet, such as camptodactyly, oligodactyly, clinodactyly, and syndactyly), frontonasal encephalocele, choanal atresia, congenital renal/cardiac malformations, and corpus callosum agenesis. phenio_relaxed_subqs.owl MONDO:0035586 biolink:NamedThing Cramp-fasciculation syndrome phenio_relaxed_subqs.owl MONDO:0035682 biolink:NamedThing fibrous dysplasia/McCune-Albright syndrome phenio_relaxed_subqs.owl MONDO:0035689 biolink:NamedThing syndrome of reduced sensitivity to thyroid hormone phenio_relaxed_subqs.owl MONDO:0035706 biolink:NamedThing SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome phenio_relaxed_subqs.owl MONDO:0035707 biolink:NamedThing blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome phenio_relaxed_subqs.owl MONDO:0035819 biolink:NamedThing cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome phenio_relaxed_subqs.owl MONDO:0035824 biolink:NamedThing KLHL7-related cold-induced sweating-like syndrome phenio_relaxed_subqs.owl MONDO:0042498 biolink:NamedThing Ruzicka-Goerz-Anton syndrome phenio_relaxed_subqs.owl MONDO:0042600 biolink:NamedThing Sammartino-Decreccio syndrome phenio_relaxed_subqs.owl MONDO:0042601 biolink:NamedThing Samson-Gardner syndrome phenio_relaxed_subqs.owl MONDO:0042602 biolink:NamedThing Samson-Viljoen syndrome phenio_relaxed_subqs.owl MONDO:0042603 biolink:NamedThing Sanderson-Fraser syndrome phenio_relaxed_subqs.owl MONDO:0042604 biolink:NamedThing Sandhaus-Ben-Ami syndrome phenio_relaxed_subqs.owl MONDO:0042705 biolink:NamedThing prostatic malacoplakia associated with prostatic abscess phenio_relaxed_subqs.owl MONDO:0042717 biolink:NamedThing Saul-Wilkes-Stevenson syndrome phenio_relaxed_subqs.owl MONDO:0042724 biolink:NamedThing macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations phenio_relaxed_subqs.owl MONDO:0042726 biolink:NamedThing macrogyria, pseudobulbar palsy and intellectual disability phenio_relaxed_subqs.owl MONDO:0042902 biolink:NamedThing Say-Carpenter syndrome phenio_relaxed_subqs.owl MONDO:0042911 biolink:NamedThing Schwartz-Cohen-addad-Lambert syndrome phenio_relaxed_subqs.owl MONDO:0042912 biolink:NamedThing Schlegelberger-Grote syndrome phenio_relaxed_subqs.owl MONDO:0042913 biolink:NamedThing Schrander-stumpel-Theunissen-Hulsmans syndrome phenio_relaxed_subqs.owl MONDO:0042915 biolink:NamedThing Schmitt-Gillenwater-Kelly syndrome phenio_relaxed_subqs.owl MONDO:0042924 biolink:NamedThing Vagneur-Triolle-Ripert syndrome phenio_relaxed_subqs.owl MONDO:0042956 biolink:NamedThing Saal-Bulas syndrome phenio_relaxed_subqs.owl MONDO:0042960 biolink:NamedThing Sackey-Sakati-Aur syndrome phenio_relaxed_subqs.owl MONDO:0043073 biolink:NamedThing Zadik-Barak-Levin syndrome phenio_relaxed_subqs.owl MONDO:0043087 biolink:NamedThing thickened earlobes with conductive deafness from incus-stapes abnormalities phenio_relaxed_subqs.owl MONDO:0043108 biolink:NamedThing infantile striato thalamic degeneration phenio_relaxed_subqs.owl MONDO:0043114 biolink:NamedThing Landy-Donnai syndrome phenio_relaxed_subqs.owl MONDO:0043129 biolink:NamedThing merlob grunebaum reisner syndrome phenio_relaxed_subqs.owl MONDO:0043170 biolink:NamedThing Pavone Fiumara Rizzo syndrome phenio_relaxed_subqs.owl MONDO:0043172 biolink:NamedThing pfeiffer rockelein syndrome phenio_relaxed_subqs.owl MONDO:0043179 biolink:NamedThing piepkorn karp hickok syndrome phenio_relaxed_subqs.owl MONDO:0043183 biolink:NamedThing podder-tolmie syndrome phenio_relaxed_subqs.owl MONDO:0043185 biolink:NamedThing pointer syndrome phenio_relaxed_subqs.owl MONDO:0043193 biolink:NamedThing richieri-costa guion-almeida cohen syndrome phenio_relaxed_subqs.owl MONDO:0043195 biolink:NamedThing Rubinstein Taybi like syndrome phenio_relaxed_subqs.owl MONDO:0043197 biolink:NamedThing ruvalcaba churesigaew myhre syndrome phenio_relaxed_subqs.owl MONDO:0043199 biolink:NamedThing short limb dwarf lethal colavita kozlowski type phenio_relaxed_subqs.owl MONDO:0043287 biolink:NamedThing superior vena cava syndrome Obstruction of the blood flow in the superior vena cava caused by a malignant neoplasm, thrombosis, or aneurysm. It is a medical emergency requiring immediate treatment. Signs and symptoms include swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea, and headache. phenio_relaxed_subqs.owl MONDO:0043320 biolink:NamedThing piriformis syndrome A condition referring to irritation or compression of the proximal sciatic nerve, secondary to contraction of the piriformis muscle. It results in pain in the hip or the back of the leg mimicking disk-related sciatica. phenio_relaxed_subqs.owl MONDO:0043358 biolink:NamedThing engraftment syndrome A toxicity of hematopoietic stem cell transplantation that manifests as fever, rash and pulmonary deterioration which becomes evident at marrow engraftment. It occurs unexpectedly and is occasionally fatal. It can occur after an autogeneic or an allogeneic hematopoietic cell transplantation. phenio_relaxed_subqs.owl MONDO:0043726 biolink:NamedThing multiple organ dysfunction syndrome The development of potentially reversible physiologic derangement involving two or more organ systems not involved in the disorder that resulted in intensive care unit (ICU) admission, and arising in the wake of a potentially life-threatening physiologic insult. phenio_relaxed_subqs.owl MONDO:0044033 biolink:NamedThing posterior leukoencephalopathy syndrome An acute or subacute reversible condition characterized by headaches, mental status changes, visual disturbances, and seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment. phenio_relaxed_subqs.owl MONDO:0044079 biolink:NamedThing cardio-renal syndrome A disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ. phenio_relaxed_subqs.owl MONDO:0044876 biolink:NamedThing drug hypersensitivity syndrome A potentially life-threatening hypersensitivity reaction to a pharmacologic substance that is characterized by rash, lymphadenopathy, fever, hematologic abnormalities and involvement of one or more internal organs. phenio_relaxed_subqs.owl MONDO:0054573 biolink:NamedThing Lopes-Maciel-Rodan syndrome phenio_relaxed_subqs.owl MONDO:0054591 biolink:NamedThing Stankiewicz-Isidor syndrome A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems. phenio_relaxed_subqs.owl MONDO:0054636 biolink:NamedThing Skraban-Deardorff syndrome phenio_relaxed_subqs.owl MONDO:0060759 biolink:NamedThing neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures phenio_relaxed_subqs.owl MONDO:0100071 biolink:NamedThing cardiocutaneous syndrome Cardiocutaneous syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern and autosomal recessive, which may lead to earlier and/or more severe phenotypic presentation. phenio_relaxed_subqs.owl MONDO:0100080 biolink:NamedThing cardioectodermal syndrome Cardioectodermal syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern, or in an autosomal recessive inheritance pattern which may result in an earlier and/or more severe phenotypic presentation. phenio_relaxed_subqs.owl MONDO:0100094 biolink:NamedThing cannabinoid hyperemesis syndrome A syndrome of cyclic vomiting associated with cannabis use. Fourteen diagnostic characteristics have been identified, and the frequency of major characteristics is as follows: history of regular cannabis for any duration of time (100%), cyclic nausea and vomiting (100%), resolution of symptoms after stopping cannabis (96.8%), compulsive hot baths with symptom relief (92.3%), male predominance (72.9%), abdominal pain (85.1%), and at least weekly cannabis use (97.4%). Supportive care with intravenous fluids, dopamine antagonists, topical capsaicin cream, and avoidance of narcotic medications has shown some benefit in the acute setting. Cannabis cessation appears to be the best treatment. phenio_relaxed_subqs.owl MONDO:0100099 biolink:NamedThing retrograde cricopharyngeus dysfunction A syndrome characterized by the inability to belch, abdominal bloating and discomfort/nausea, or chest pain, especially after eating, socially awkward gurgling noises from the chest and lower neck as though the esophagus is churning and straining to eject the air, excessive flatulence, social inhibition, and difficulty vomiting (common but not universal). Botulinum toxin (BT) injection into the cricopharyngeus muscle (CPM) is done for both diagnosis and treatment of R-CPD. phenio_relaxed_subqs.owl MONDO:0100109 biolink:NamedThing Zinner syndrome A rare condition comprising a triad of unilateral renal agenesis, ipsilateral seminal vesicle obstruction and ipsilateral ejaculatory duct obstruction. phenio_relaxed_subqs.owl MONDO:0100253 biolink:NamedThing Roberts-SC phocomelia syndrome A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities. phenio_relaxed_subqs.owl MONDO:0800026 biolink:NamedThing central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients. phenio_relaxed_subqs.owl MONDO:8000010 biolink:NamedThing antiphospholipid syndrome A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease. phenio_relaxed_subqs.owl NCIT:C28193 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0039106 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2702 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9898 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007396 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_M12.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_719.20 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013586 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_95412009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001106 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:66627 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0039130 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004911 biolink:NamedThing cardiovascular syphilis A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries. phenio_relaxed_subqs.owl DOID:9880 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_093.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_83883001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0039131 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005714 biolink:NamedThing congenital syphilis A life-threatening bacterial infection of the newborn caused by Treponema pallidum. It is transmitted to the infant from a mother with syphilis through the placenta during pregnancy. Signs and symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia. phenio_relaxed_subqs.owl DOID:9856 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A50 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_090.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013590 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000333 biolink:NamedThing early congenital syphilis A congenital syphilis that is manifested between 0 and 2 years old. phenio_relaxed_subqs.owl MONDO:0005821 biolink:NamedThing late congenital syphilis phenio_relaxed_subqs.owl NCIT:C84649 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_35742006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007219 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:499009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0039133 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005822 biolink:NamedThing latent syphilis A stage of syphilis characterized by the serologic evidence of infection by Treponema pallidum without evidence of accompanying signs or symptoms related to the disease. phenio_relaxed_subqs.owl DOID:9531 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_097.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013592 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0040922 biolink:NamedThing latent early syphilis phenio_relaxed_subqs.owl MONDO:0040923 biolink:NamedThing late latent syphilis Latent syphilis when infection was acquired more than twelve months previously. phenio_relaxed_subqs.owl NCIT:C35056 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_444150000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007340 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0039223 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10027 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008730 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A52.11 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_094.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013606 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35057 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_316841006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007505 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0039263 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2508 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007730 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013625 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34391 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35062 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:207600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_239937004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001857 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3287 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0039292 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008783 biolink:NamedThing Tangier disease Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults. phenio_relaxed_subqs.owl DOID:1388 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007731 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013631 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85182 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:205400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723579009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:31150 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0039319 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12526 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007733 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_G57.5 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_355.5 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013641 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85183 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_47374004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001208 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0039373 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3320 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007737 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E75.02 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013661 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017724 biolink:NamedThing Tay-Sachs disease, b variant, infantile form phenio_relaxed_subqs.owl MONDO:0017725 biolink:NamedThing Tay-Sachs disease, b variant, juvenile form phenio_relaxed_subqs.owl MONDO:0017726 biolink:NamedThing Tay-Sachs disease, b variant, adult form phenio_relaxed_subqs.owl MONDO:0017728 biolink:NamedThing Tay-Sachs disease, B1 variant phenio_relaxed_subqs.owl NCIT:C85184 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:272800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111385000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:845 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0039445 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019180 biolink:NamedThing hereditary hemorrhagic telangiectasia Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting. phenio_relaxed_subqs.owl DOID:1270 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006626 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_I78.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_448.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013683 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008535 biolink:NamedThing telangiectasia, hereditary hemorrhagic, type 1 phenio_relaxed_subqs.owl MONDO:0010880 biolink:NamedThing telangiectasia, hereditary hemorrhagic, type 2 Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene. phenio_relaxed_subqs.owl MONDO:0010996 biolink:NamedThing hereditary hemorrhagic telangiectasia type 3 phenio_relaxed_subqs.owl MONDO:0012532 biolink:NamedThing hereditary hemorrhagic telangiectasia type 4 phenio_relaxed_subqs.owl MONDO:0014217 biolink:NamedThing telangiectasia, hereditary hemorrhagic, type 5 Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene. phenio_relaxed_subqs.owl NCIT:C35064 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_187300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_21877004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:774 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0039496 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013706 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35066 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0039503 biolink:NamedThing phenio_relaxed_subqs.owl DOID:971 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D052256 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001042 biolink:NamedThing patellar tendinitis A tendinitis that involves the patella. phenio_relaxed_subqs.owl MONDO:0001127 biolink:NamedThing tibialis tendinitis A tendinitis that involves the tibialis. phenio_relaxed_subqs.owl MONDO:0001594 biolink:NamedThing Achilles bursitis An bursitis involving a pathogenic inflammatory response in the calcaneal tendon. phenio_relaxed_subqs.owl MONDO:0001903 biolink:NamedThing calcific tendinitis phenio_relaxed_subqs.owl MONDO:0100012 biolink:NamedThing paratenonitis Inflammation of the outer layer of the tendon (paratenon) alone, whether or not the paratenon is lined by synovium. phenio_relaxed_subqs.owl NCIT:C97141 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_34840004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0039520 biolink:NamedThing phenio_relaxed_subqs.owl DOID:970 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013717 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001905 biolink:NamedThing bicipital tenosynovitis phenio_relaxed_subqs.owl MONDO:0002517 biolink:NamedThing tenosynovitis of foot and ankle phenio_relaxed_subqs.owl OBO:SCTID_67801009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001435 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0039584 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2519 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013733 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001136 biolink:NamedThing chylocele of tunica vaginalis phenio_relaxed_subqs.owl MONDO:0001415 biolink:NamedThing atrophy of testis Loss of testicular volume. phenio_relaxed_subqs.owl MONDO:0003279 biolink:NamedThing testicular infarct Ischemic necrosis of the testis usually caused by torsion of the spermatic cord, trauma, or severe epididymo-orchitis. phenio_relaxed_subqs.owl MONDO:0005437 biolink:NamedThing testicular dysgenesis syndrome A syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis. phenio_relaxed_subqs.owl MONDO:0021348 biolink:NamedThing neoplasm of testis A neoplasm (disease) that involves the testis. phenio_relaxed_subqs.owl NCIT:C26890 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_64910008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0039585 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019154 biolink:NamedThing androgen insensitivity syndrome Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). phenio_relaxed_subqs.owl DOID:4674 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005803 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_259.51 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013734 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010720 biolink:NamedThing partial androgen insensitivity syndrome Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. phenio_relaxed_subqs.owl MONDO:0021023 biolink:NamedThing complete androgen insensitivity syndrome Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens. phenio_relaxed_subqs.owl NCIT:C27226 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300068 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_12313004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:754 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0039614 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005526 biolink:NamedThing tetanus A serious infectious disorder that follows wound contamination by the Gram-positive bacterium Clostridium tetani. The bacteria produce a neurotoxin called tetanospasmin, which causes muscle spasm in the jaw and other anatomic sites. phenio_relaxed_subqs.owl DOID:11338 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005144 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013742 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001737 biolink:NamedThing tetanus neonatorum A syndrome of generalized rigidity with muscle spasms and seizures in the neonatal period resulting from Clostridium tetani toxin production. phenio_relaxed_subqs.owl NCIT:C85185 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_276202003 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_76902006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005593 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3299 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0039685 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6419 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002245 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_Q21.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_745.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013771 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84505 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:187500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_86299006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3303 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0039753 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005978 biolink:NamedThing theileriasis Infection of cattle, sheep, or goats with protozoa of the genus theileria. This infection results in an acute or chronic febrile condition. phenio_relaxed_subqs.owl DOID:3733 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013801 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_68771000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007506 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0039984 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3103 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013901 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015061 biolink:NamedThing neurogenic thoracic outlet syndrome Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS. phenio_relaxed_subqs.owl MONDO:0018164 biolink:NamedThing arterial thoracic outlet syndrome Arterial thoracic outlet syndrome (ATOS) is a form of thoracic outlet syndrome (TOS) that presents as unilateral upper extremity ischemia. phenio_relaxed_subqs.owl MONDO:0018165 biolink:NamedThing venous thoracic outlet syndrome Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS) that manifests as unilateral (rarely bilateral) arm pain and cyanosis. phenio_relaxed_subqs.owl NCIT:C85188 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_128210009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007507 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:97330 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040021 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008889 biolink:NamedThing thromboangiitis obliterans Buerger disease, also known as thromboangiitis obliterans (TAO), is a rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco. phenio_relaxed_subqs.owl DOID:12918 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005969 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_443.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013919 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35070 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:211480 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_52403007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001211 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:36258 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040127 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006996 biolink:NamedThing thyroid crisis Acute onset of severe, life-threatening hyperthyroidism caused by a sudden release of excessive thyroid hormone. phenio_relaxed_subqs.owl DOID:12837 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013958 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C112836 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_29028009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001212 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040128 biolink:NamedThing phenio_relaxed_subqs.owl DOID:50 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E00-E07 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_246.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013959 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001525 biolink:NamedThing thyrocalcitonin secretion disease phenio_relaxed_subqs.owl MONDO:0004425 biolink:NamedThing hyperthyroidism Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor. phenio_relaxed_subqs.owl MONDO:0004564 biolink:NamedThing thyroid malformation An anatomic abnormality of the thyroid gland. phenio_relaxed_subqs.owl MONDO:0005397 biolink:NamedThing goiter Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing. phenio_relaxed_subqs.owl MONDO:0005420 biolink:NamedThing hypothyroidism Abnormally low levels of thyroid hormone. phenio_relaxed_subqs.owl MONDO:0006120 biolink:NamedThing C-cell hyperplasia Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism). phenio_relaxed_subqs.owl MONDO:0006666 biolink:NamedThing atrophy of thyroid Tissue degeneration and diminished size of the thyroid gland. phenio_relaxed_subqs.owl MONDO:0015074 biolink:NamedThing thyroid tumor A benign or malignant neoplasm affecting the thyroid gland. phenio_relaxed_subqs.owl NCIT:C26893 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_14304000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000627 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040147 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7166 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_245.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013966 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001947 biolink:NamedThing suppurative thyroiditis Acute inflammatory disease of the thyroid gland due to infections by bacteria; fungi; or other microorganisms. Symptoms include tender swelling, fever, and often with leukocytosis. phenio_relaxed_subqs.owl MONDO:0004135 biolink:NamedThing subacute lymphocytic thyroiditis Thyroiditis associated with painless enlargement of the thyroid gland. It occurs more frequently in females and is characterized by alterations between hyperthyroidism and hypothyroidism and the eventual return to normal thyroid gland function. phenio_relaxed_subqs.owl MONDO:0005623 biolink:NamedThing autoimmune thyroid disease Inflammatory disease of the thyroid gland due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-cells and thyroid autoantibodies. The clinical signs can range from hypothyroidism to thyrotoxicosis depending on the type of autoimmune thyroiditis. phenio_relaxed_subqs.owl MONDO:0006982 biolink:NamedThing subacute thyroiditis Self-limited inflammation of the thyroid gland characterized by the presence of multinucleated giant cells. Patients present with neck pain, often associated with fever and dysphagia. The clinical course includes an initial phase of hyperthyroidism, followed by a phase of hypothyroidism, and eventually a return to normal thyroid function. phenio_relaxed_subqs.owl NCIT:C26894 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_82119001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040149 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7165 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E06.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013968 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35828 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_428041004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001194 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040150 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14350 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013969 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129724 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_25476006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001431 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040156 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010138 biolink:NamedThing thyrotoxicosis A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis. phenio_relaxed_subqs.owl DOID:7997 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013971 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001555 biolink:NamedThing neonatal thyrotoxicosis A hypermetabolic syndrome characterized by tachycardia, palpitations, tremor, weight loss, and moist skin that is caused by the elevation of thyroid hormone levels in the serum of the newborn infant or thyroid-axis receptor activation, most commonly due to transplacental passage of thyroid stimulating globulins. phenio_relaxed_subqs.owl NCIT:C61469 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_90739004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009190 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040196 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4109 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013984 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005981 biolink:NamedThing tick paralysis Paralysis caused by a neurotropic toxin secreted by the salivary glands of ticks. phenio_relaxed_subqs.owl EFO:0007508 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040197 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11285 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007771 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013985 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_74225001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007509 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040213 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14021 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_733.6 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013991 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C168333 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_30128009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040247 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12404 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000303 biolink:NamedThing conidiobolomycosis phenio_relaxed_subqs.owl MONDO:0005915 biolink:NamedThing pityriasis versicolor A yeast infection usually manifested as a superficial skin infection. It may also present as a systemic infection in patients who are receiving total parenteral nutrition. phenio_relaxed_subqs.owl MONDO:0005983 biolink:NamedThing tinea favosa A severe, chronic fungal skin infection, usually of the scalp, characterized by the development of thick, yellow cup-shaped crusts and scarring over hair follicles. phenio_relaxed_subqs.owl MONDO:0021660 biolink:NamedThing deep seated dermatophytosis A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars. phenio_relaxed_subqs.owl NCIT:C112181 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007510 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040249 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13902 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B36.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_111.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_35586003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040252 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0546826 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12179 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B35.4 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000245 biolink:NamedThing tinea imbricata A tinea corporis that results in fungal infection located in skin, has material basis in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition. phenio_relaxed_subqs.owl OBO:SCTID_84849002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040254 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4336 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014007 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35072 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_85375000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007511 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040255 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050116 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B35.5 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_240699006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040259 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12403 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B35.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_110.4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014008 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_6020002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007512 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040261 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0157690 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0157691 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0157696 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0157698 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0157701 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4082762 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13074 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B35.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014009 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C112214 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040262 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9060 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B36.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_111.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014010 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C82981 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_56454009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007439 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040361 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005985 biolink:NamedThing Togaviridae infectious disease Virus diseases caused by the togaviridae. phenio_relaxed_subqs.owl OBO:GARD_0007776 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014036 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005643 biolink:NamedThing Alphavirus infectious disease Virus diseases caused by members of the alphavirus genus of the family togaviridae. phenio_relaxed_subqs.owl EFO:0007513 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040381 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0392060 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205421 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1278 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007777 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020333 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85193 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_95794005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:64686 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040522 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005987 biolink:NamedThing toxascariasis Infections with nematodes of the genus toxascaris. phenio_relaxed_subqs.owl DOID:3107 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017227 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007515 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040553 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005988 biolink:NamedThing toxocariasis A parasitic infection caused by worms found in domestic animals. In humans nematode larvae enter the portal system from the small intestine and disseminate in visceral organs causing inflammatory reactions. Signs and symptoms include eosinophilia, hepatomegaly, splenomegaly, and lung infections. phenio_relaxed_subqs.owl DOID:9790 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007788 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_128.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014120 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024893 biolink:NamedThing toxocara canis infection (canine roundworms) phenio_relaxed_subqs.owl MONDO:0024954 biolink:NamedThing larva migrans, visceral A condition produced in humans by the prolonged migration of animal nematode larvae in extraintestinal tissues other than skin; characterized by persistent hypereosinophilia, hepatomegaly, and frequently pneumonitis, commonly caused by Toxocara canis and Toxocara cati. phenio_relaxed_subqs.owl NCIT:C34758 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_406619001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007516 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3343 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040558 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9965 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B58 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_130.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014123 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005697 biolink:NamedThing cerebral toxoplasmosis Infections of the brain caused by the protozoan toxoplasma gondii that primarily arise in individuals with immunologic deficiency syndromes (see also aids-related opportunistic infections). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include seizures, altered mentation, headache, focal neurologic deficits, and intracranial hypertension. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3) phenio_relaxed_subqs.owl MONDO:0005715 biolink:NamedThing congenital toxoplasmosis Toxoplasma infection that is present from birth. phenio_relaxed_subqs.owl NCIT:C3418 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_187192000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007517 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040559 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014124 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040560 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13336 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010326 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_P37.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014125 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C50503 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_73893000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007220 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:858 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040584 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0149513 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0264322 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9392 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_J04.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014136 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C78643 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_62994001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007518 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040592 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001249 biolink:NamedThing trachoma A chronic infection of the conjunctiva and cornea caused by chlamydia trachomatis. phenio_relaxed_subqs.owl DOID:11265 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010374 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_076.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014141 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_2576002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040830 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11101 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A79.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_083.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014205 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_82214002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007519 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:64694 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040921 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002154 biolink:NamedThing trichomoniasis An infection that is caused by Trichomonas. phenio_relaxed_subqs.owl DOID:1947 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A59 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_131.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014245 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0030705 biolink:NamedThing Trichomonas prostatitis Infection of the prostate gland caused by Trichomonas vaginalis. phenio_relaxed_subqs.owl MONDO:0030707 biolink:NamedThing Trichomonas balanoposthitis phenio_relaxed_subqs.owl MONDO:0030708 biolink:NamedThing Trichomonas cervicitis An cervicitis (disease) caused by infection with Trichomonas vaginalis. phenio_relaxed_subqs.owl MONDO:0030906 biolink:NamedThing Trichomonas tenax infectious disease An disease or disorder caused by infection with Trichomonas tenax. phenio_relaxed_subqs.owl NCIT:C35720 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_56335008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040947 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005994 biolink:NamedThing trichostrongyloidiasis Infection by roundworms of the superfamily trichostrongyloidea, including the genera trichostrongylus; ostertagia; Cooperia, haemonchus; Nematodirus, Hyostrongylus, and dictyocaulus. phenio_relaxed_subqs.owl DOID:1255 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014252 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005995 biolink:NamedThing trichostrongylosis Infestation with nematode worms of the genus trichostrongylus. Humans become infected by swallowing larvae, usually with contaminated food or drink, although the larvae may penetrate human skin. phenio_relaxed_subqs.owl EFO:0007522 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040948 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1254 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B81.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_127.6 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014253 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_33710003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007523 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0040954 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005996 biolink:NamedThing trichuriasis An infection that is caused by the nematode Trichuris trichiura, a soil-transmitted helminth, which is transmitted via food and/or water contaminated with the eggs of the worm. Symptoms are usually mild and include abdominal pain, diarrhea, fatigue, and possibly anemia secondary to blood loss in diarrhea. phenio_relaxed_subqs.owl DOID:1252 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010720 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B79 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_127.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014257 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128399 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_3752003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007524 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041170 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8399 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014323 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007526 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041188 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019168 biolink:NamedThing pyomyositis Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation. phenio_relaxed_subqs.owl UMLS:C1704275 biolink:NamedThing phenio_relaxed_subqs.owl DOID:876 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004614 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_040.81 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D052880 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128382 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_65110003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001409 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:764 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041227 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000940 biolink:NamedThing trypanosomiasis Infection with protozoa of the genus trypanosoma. phenio_relaxed_subqs.owl DOID:10113 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B56 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_086.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014352 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001444 biolink:NamedThing Chagas disease A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias. phenio_relaxed_subqs.owl MONDO:0005459 biolink:NamedThing human African trypanosomiasis A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death. phenio_relaxed_subqs.owl OBO:SCTID_78940002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041228 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10112 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007826 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_086.5 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014353 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021941 biolink:NamedThing infection by Trypanosoma rhodesiense An infection with Trypanosoma brucei rhodesiense. phenio_relaxed_subqs.owl NCIT:C84541 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_27031003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005225 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3385 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041230 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014354 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041232 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008540 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35084 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_75809006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041233 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35085 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_42872003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041234 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153125 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0348781 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0348782 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12140 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B57 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014355 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84629 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_77506005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0008559 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3386 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041295 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021943 biolink:NamedThing tuberculoma A tumor-like mass resulting from the enlargement of a tuberculous lesion. phenio_relaxed_subqs.owl OBO:MESH_D014375 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_15202009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041296 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0151332 biolink:NamedThing phenio_relaxed_subqs.owl DOID:399 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007827 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A15-A19 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014376 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000271 biolink:NamedThing tuberculous salpingitis An urogenital tuberculosis involving a pathogenic inflammatory response in the fallopian tube. phenio_relaxed_subqs.owl MONDO:0000368 biolink:NamedThing extrapulmonary tuberculosis A tuberculosis that occurs at body sites other than the lung. phenio_relaxed_subqs.owl MONDO:0000369 biolink:NamedThing abdominal tuberculosis An extrapulmonary tuberculosis that is located in gastrointestinal tract, located in peritoneum, located in omentum, located in mesentery, located in liver, located in spleen or located in pancreas. phenio_relaxed_subqs.owl MONDO:0000813 biolink:NamedThing cardiac tuberculosis Pathological conditions of the cardiovascular system caused by infection of mycobacterium tuberculosis. Tuberculosis involvement may include the heart; the blood vessels; or the pericardium. phenio_relaxed_subqs.owl MONDO:0001537 biolink:NamedThing tuberculous epididymitis An urogenital tuberculosis involving a pathogenic inflammatory response in the epididymis. phenio_relaxed_subqs.owl MONDO:0001678 biolink:NamedThing intestinal tuberculosis A tuberculosis that involves the intestine. phenio_relaxed_subqs.owl MONDO:0004189 biolink:NamedThing esophageal tuberculosis A tuberculosis that involves the esophagus. phenio_relaxed_subqs.owl MONDO:0004272 biolink:NamedThing urinary bladder tuberculosis A tuberculosis that involves the urinary bladder. phenio_relaxed_subqs.owl MONDO:0004517 biolink:NamedThing ureter tuberculosis A tuberculosis that involves the ureter. phenio_relaxed_subqs.owl MONDO:0005696 biolink:NamedThing central nervous system tuberculosis A well-circumscribed mass composed of tuberculous granulation tissue that may occur in the cerebral hemispheres, cerebellum, brain stem, or perimeningeal spaces. Multiple lesions are quite common. Management of intracranial manifestations vary with lesion site. Intracranial tuberculomas may be associated with seizures, focal neurologic deficits, and intracranial hypertension. Spinal cord tuberculomas may be associated with localized or radicular pain, weakness, sensory loss, and incontinence. Tuberculomas may arise as opportunistic infections, but also occur in immunocompetent individuals. phenio_relaxed_subqs.owl MONDO:0005768 biolink:NamedThing gastrointestinal tuberculosis Tuberculosis that involves any region of the gastrointestinal tract, mostly in the distal ileum and the cecum. In most cases, mycobacterium tuberculosis is the pathogen. Clinical features include abdominal pain; fever; and palpable mass in the ileocecal area. phenio_relaxed_subqs.owl MONDO:0005787 biolink:NamedThing hepatic tuberculosis Infection of the liver with species of mycobacterium, most often mycobacterium tuberculosis. It is characterized by localized small tuberculous miliary lesions or tumor-like mass (tuberculoma), and abnormalities in liver function tests. phenio_relaxed_subqs.owl MONDO:0005819 biolink:NamedThing laryngeal tuberculosis Extrapulmonary tuberculosis involving the larynx. Signs and symptoms include hoarseness, cough, and odynophagia. The condition is rare. phenio_relaxed_subqs.owl MONDO:0005831 biolink:NamedThing lymph node tuberculosis Tuberculosis of the lymph node. phenio_relaxed_subqs.owl MONDO:0005887 biolink:NamedThing oral tuberculosis Tuberculosis of the mouth, tongue, and salivary glands. phenio_relaxed_subqs.owl MONDO:0005922 biolink:NamedThing pleural tuberculosis Inflammation of the pleura secondary to an infection with Mycobacterium tuberculosis. phenio_relaxed_subqs.owl MONDO:0005938 biolink:NamedThing renal tuberculosis Infection of the kidney due to mycobacteria. phenio_relaxed_subqs.owl MONDO:0005962 biolink:NamedThing skeletal tuberculosis Tuberculosis of the bones or joints. phenio_relaxed_subqs.owl MONDO:0005967 biolink:NamedThing splenic tuberculosis Infection of the spleen with species of mycobacterium. phenio_relaxed_subqs.owl MONDO:0006002 biolink:NamedThing urogenital tuberculosis A general term for mycobacterium infections of any part of the urogenital system in either the male or the female. phenio_relaxed_subqs.owl MONDO:0006042 biolink:NamedThing meningeal tuberculosis A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis. phenio_relaxed_subqs.owl MONDO:0006052 biolink:NamedThing pulmonary tuberculosis A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss. phenio_relaxed_subqs.owl MONDO:0006845 biolink:NamedThing male genital tuberculosis Mycobacterium infections of the male reproductive tract (genitalia, male). phenio_relaxed_subqs.owl MONDO:0006876 biolink:NamedThing ocular tuberculosis Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid. phenio_relaxed_subqs.owl MONDO:0021948 biolink:NamedThing cutaneous tuberculosis phenio_relaxed_subqs.owl MONDO:0040753 biolink:NamedThing latent tuberculosis infection Mycobacterium tuberculosis infection that does not induce infectious expression of the disease in the affected person, although it can cause continuous immune response generated towards TB antigens; person having LTBI are asymptomatic and acting as a reservoir of active tuberculosis tuberculosis cases and Mycobacterium tuberculosis and run a 5-10% risk of reactivating tuberculosis throughout their lives. phenio_relaxed_subqs.owl MONDO:0041806 biolink:NamedThing drug-resistant tuberculosis Tuberculosis disease caused by Mycobacterium tuberculosis isolate that is resistant to one or more of the antitubercular medications. phenio_relaxed_subqs.owl MONDO:0043836 biolink:NamedThing tuberculosis, spinal Tuberculosis of the vertebrae. phenio_relaxed_subqs.owl MONDO:0100481 biolink:NamedThing active tuberculosis Tuberculosis caused by primary infection of or reactivation of latent Mycobacterium tuberculosis. Active tuberculosis characterized by clinical manifestation and active symptoms compatible with tuberculosis, and is distinct from latent tuberculosis infection that occurs without signs or symptoms of active disease. phenio_relaxed_subqs.owl NCIT:C3423 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_56717001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3389 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041306 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014379 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001440 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041307 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014380 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001441 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041308 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060570 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014381 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001442 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041309 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_66986005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001443 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041310 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014383 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000917 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041312 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152717 biolink:NamedThing phenio_relaxed_subqs.owl DOID:404 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014385 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006000 biolink:NamedThing tuberculous peritonitis A form of peritonitis seen in patients with tuberculosis, characterized by lesion either as a miliary form or as a pelvic mass on the peritoneal surfaces. Most patients have ascites, abdominal swelling, abdominal pain, and other systemic symptoms such as fever; weight loss; and anemia. phenio_relaxed_subqs.owl OBO:SCTID_186225008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007280 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041313 biolink:NamedThing phenio_relaxed_subqs.owl DOID:407 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014386 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_186273003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007302 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041315 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1583 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_012.30 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014387 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C26895 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_70341005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007337 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041317 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014389 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_240379005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001030 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041318 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007828 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014390 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84888 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_58437007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000039 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:499004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041321 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005848 biolink:NamedThing miliary tuberculosis I would say the hematogenous widespread dissemination of tuberculosis in the body. The term derives from the chest X-ray image of the tiny (1-5 mm) tuberculosis lesions which are seen through out the lung parenchyma. phenio_relaxed_subqs.owl UMLS:C0152915 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9861 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A19 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_018.90 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014391 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35086 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_47604008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007368 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041322 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070344 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_017.30 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014392 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_49107007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001070 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041323 biolink:NamedThing phenio_relaxed_subqs.owl DOID:402 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014393 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_235067001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007407 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041324 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1639 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014394 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_17653001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007487 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041325 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9801 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A18.31 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_014.00 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014395 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_44572005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007529 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041327 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2957 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_011.90 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014397 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021953 biolink:NamedThing tuberculous fibrosis of lung Scarring of the lung parenchyma caused by pulmonary tuberculosis. phenio_relaxed_subqs.owl NCIT:C26899 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_154283005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000049 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041328 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9733 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_016.00 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014398 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C123020 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_44323002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007463 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041333 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2149 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_016.90 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014401 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_4445009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007531 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041336 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35088 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_90117007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041351 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018077 biolink:NamedThing tularemia Tularemia is an infection caused by the bacterium Francisella tularensis. It is more common in rodents and rabbits but has been found in other animals including domestic cats, sheep, birds, and hamsters. Humans can become infected in several different ways: by handling infected animals, through tick or deer fly bites, by drinking contaminated water, or by inhaling contaminated dust or aerosols. Person-to-person transmission has not been reported. The type of tularemia and the particular signs and symptoms vary depending on how the bacteria enter the body. However, fever is seen in most cases. Though tularemia can be life-threatening, most infections can be treated with antibiotics. phenio_relaxed_subqs.owl DOID:2123 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000396 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A21 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_021.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014406 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000320 biolink:NamedThing glandular tularemia A tularemia that involves the lymph node. phenio_relaxed_subqs.owl MONDO:0000321 biolink:NamedThing typhoidal tularemia A tularemia that results in bacteremia and has symptom fever, has symptom chills, has symptom myalgia, has symptom malaise, and has symptom weight loss. phenio_relaxed_subqs.owl MONDO:0001413 biolink:NamedThing ulceroglandular tularemia A tularemia that results in painful regional lymphadenopathy and an ulcerated skin lesion. phenio_relaxed_subqs.owl MONDO:0001665 biolink:NamedThing oculoglandular tularemia A tularemia that results in inflammation of eye and swelling of lymph glands in front of the ear. phenio_relaxed_subqs.owl MONDO:0001916 biolink:NamedThing gastrointestinal tularemia A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting. phenio_relaxed_subqs.owl MONDO:0002212 biolink:NamedThing pneumonic tularemia A tularemia that is located in lungs. The bacteria are transmitted by breathing dusts or aerosols containing the organisms. The infection has symptom cough, has symptom chest has symptom pain, and has symptom difficulty breathing. phenio_relaxed_subqs.owl NCIT:C85208 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_19265001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001444 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3392 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041364 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015275 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3425 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_277605001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001479 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041408 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019499 biolink:NamedThing Turner syndrome Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome. phenio_relaxed_subqs.owl DOID:3491 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002458 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002459 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002540 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007831 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_758.7 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014424 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020466 biolink:NamedThing monosomy X phenio_relaxed_subqs.owl MONDO:0020472 biolink:NamedThing Turner syndrome due to structural X chromosome anomalies phenio_relaxed_subqs.owl NCIT:C26900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_38804009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:881 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041466 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13258 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009564 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_002.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014435 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35089 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_4834000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0006789 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99745 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041471 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001246 biolink:NamedThing typhus A group of infectious diseases that include epidemic typhus, scrub typhus and murine typhus. phenio_relaxed_subqs.owl UMLS:C0041472 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11256 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007833 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000330 biolink:NamedThing endemic typhus A bacterial infection caused by Rickettsia typhi. phenio_relaxed_subqs.owl MONDO:0019362 biolink:NamedThing epidemic louse-borne typhus A gram-negative bacterial infection caused by Rickettsia prowazekii. It is spread by lice infected with the bacteria. Signs and symptoms include sudden headache, generalized muscle pain, malaise, and macular skin lesions. The infection may affect the central nervous system causing encephalitis. phenio_relaxed_subqs.owl OBO:SCTID_240613006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:102023 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041582 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0043839 biolink:NamedThing ulcer disease A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue. phenio_relaxed_subqs.owl OBO:MESH_D014456 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004577 biolink:NamedThing corneal ulcer Area of epithelial tissue loss from corneal surface; associated with inflammatory cells in the cornea and anterior chamber. phenio_relaxed_subqs.owl MONDO:0044782 biolink:NamedThing esophageal ulcer An ulcerated lesion in the esophageal wall. phenio_relaxed_subqs.owl NCIT:C3426 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_429040005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0041825 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5782 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_384.9 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001443 biolink:NamedThing tympanosclerosis The formation of dense connective tissue in the tympanic membrane that does not necessarily cause or lead to loss of hearing. phenio_relaxed_subqs.owl MONDO:0001547 biolink:NamedThing atrophic nonflaccid tympanic membrane phenio_relaxed_subqs.owl MONDO:0001803 biolink:NamedThing myringitis bullosa hemorrhagica A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection. phenio_relaxed_subqs.owl MONDO:0003647 biolink:NamedThing atrophic flaccid tympanic membrane phenio_relaxed_subqs.owl OBO:SCTID_21426000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0042133 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007886 biolink:NamedThing uterine corpus leiomyoma A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. phenio_relaxed_subqs.owl UMLS:C2242776 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13223 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_218.9 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001664 biolink:NamedThing submucous uterine fibroid phenio_relaxed_subqs.owl MONDO:0001745 biolink:NamedThing subserous uterine fibroid phenio_relaxed_subqs.owl MONDO:0001841 biolink:NamedThing uterine corpus epithelioid leiomyoma A morphologic variant of uterine corpus leiomyoma characterized by the presence of round or polygonal epithelioid smooth muscle cells forming clusters. phenio_relaxed_subqs.owl MONDO:0001842 biolink:NamedThing uterine corpus dissecting leiomyoma A rare morphologic variant of uterine corpus leiomyoma. Macroscopically, it is characterized by large, fungating, and multinodular neoplasm masses arising from the uterine corpus, and extending into the broad ligament or the peritoneal cavity. Microscopically, it shows neoplastic smooth muscle cells infiltrating the myometrium. The neoplastic cells are arranged in a micronodular pattern. Hydropic changes and increased vascularity are also present. phenio_relaxed_subqs.owl MONDO:0001843 biolink:NamedThing uterus interstitial leiomyoma phenio_relaxed_subqs.owl MONDO:0001844 biolink:NamedThing uterine corpus myxoid leiomyoma A morphologic variant of uterine corpus leiomyoma characterized by extensive myxoid degeneration of the neoplasm connective tissue stroma. phenio_relaxed_subqs.owl MONDO:0001845 biolink:NamedThing uterine corpus lipoleiomyoma A rare morphologic variant of uterine corpus leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm. phenio_relaxed_subqs.owl MONDO:0001846 biolink:NamedThing uterine corpus bizarre leiomyoma A morphologic variant of uterine corpus leiomyoma characterized by significant cytologic atypia. The atypical cells are large with pleomophic hyperchromatic nuclei. phenio_relaxed_subqs.owl MONDO:0003704 biolink:NamedThing uterine corpus diffuse leiomyomatosis An unusual condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body of the uterus. phenio_relaxed_subqs.owl MONDO:0004161 biolink:NamedThing uterine corpus apoplectic leiomyoma A morphologic variant of uterine corpus leiomyoma characterized by zones of hemorrhagic infarction surrounded by hypercellular areas. It usually develops in women of childbearing years, particularly those that are pregnant, post-partum, or taking oral contraceptives. phenio_relaxed_subqs.owl MONDO:0004162 biolink:NamedThing uterine corpus cellular leiomyoma A morphologic variant of leiomyoma arising from the uterine corpus. It is characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern. phenio_relaxed_subqs.owl NCIT:C3434 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:150699 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_ULM biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_95315005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000731 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0042170 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12297 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007862 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_363.22 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_364.24 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014607 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85218 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_193497004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3437 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0042171 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13404 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014608 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_4416007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001232 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0042214 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002595 biolink:NamedThing vaccinia The cutaneous and occasional systemic reactions associated with vaccination using smallpox (variola) vaccine. phenio_relaxed_subqs.owl DOID:3298 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014615 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111852003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0042384 biolink:NamedThing phenio_relaxed_subqs.owl DOID:865 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009565 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014657 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001290 biolink:NamedThing allergic cutaneous vasculitis Inflammation of the small vessels of the skin that is mediated by the immune system. phenio_relaxed_subqs.owl MONDO:0003346 biolink:NamedThing central nervous system vasculitis Vasculitis affecting the blood vessels of the brain and/or spinal cord. phenio_relaxed_subqs.owl MONDO:0006794 biolink:NamedThing hypersensitivity vasculitis A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer. phenio_relaxed_subqs.owl MONDO:0008640 biolink:NamedThing vasculitis, lymphocytic, nodular Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease can present with a variety of symptoms, depending on the size, location, and severity of the affected area. In a minority of patients, cutaneous vasculitis can be part of a more severe vasculitis affecting other organs in the body - this is known as systemic vasculitis. phenio_relaxed_subqs.owl MONDO:0015488 biolink:NamedThing predominantly large-vessel vasculitis phenio_relaxed_subqs.owl MONDO:0015489 biolink:NamedThing predominantly medium-vessel vasculitis phenio_relaxed_subqs.owl MONDO:0015490 biolink:NamedThing predominantly small-vessel vasculitis phenio_relaxed_subqs.owl MONDO:0018640 biolink:NamedThing secondary vasculitis phenio_relaxed_subqs.owl MONDO:0018837 biolink:NamedThing postinfectious vasculitis Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses. phenio_relaxed_subqs.owl MONDO:0020576 biolink:NamedThing cutaneous vasculitis Inflammation of the blood vessel wall characterized by palpable purpura. phenio_relaxed_subqs.owl MONDO:0025514 biolink:NamedThing livedoid vasculopathy Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur.Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia. phenio_relaxed_subqs.owl MONDO:0030703 biolink:NamedThing autoimmune vasculitis An autoimmune form of vasculitis. phenio_relaxed_subqs.owl NCIT:C26912 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_31996006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0006803 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:52759 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0042454 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008180 biolink:NamedThing congenital velopharyngeal incompetence Failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (adenoidectomy; cleft palate) or an incompetent palatopharyngeal sphincter. It is characterized by hypernasal speech. phenio_relaxed_subqs.owl OBO:GARD_0005470 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014681 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:167500 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2291 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0042465 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014685 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0042470 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050196 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_359673001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:319234 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0042548 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001795 biolink:NamedThing plantar wart A wart in the plantar surface of the foot. It is caused by human papillomavirus. phenio_relaxed_subqs.owl DOID:13775 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B07.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_078.12 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C26913 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_63440008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1002023 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0042560 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13095 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_435.1 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35123 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_34781003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0042584 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014720 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0042594 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3426 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015837 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004900 biolink:NamedThing peripheral vertigo phenio_relaxed_subqs.owl UMLS:C0042636 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014735 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0043297 biolink:NamedThing vibrio vulnificus infectious disease An disease or disorder caused by infection with Vibrio vulnificus. phenio_relaxed_subqs.owl EFO:1001235 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0042721 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006011 biolink:NamedThing viral hepatitis An acute or chronic inflammation of the liver parenchyma caused by viruses. Representative examples include hepatitis A, B, and C, cytomegalovirus hepatitis, and herpes simplex hepatitis. phenio_relaxed_subqs.owl DOID:1884 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B15-B19 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_573.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006525 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005788 biolink:NamedThing hepatitis E virus infection Acute inflammation of the liver in humans; caused by hepatitis E virus, a non-enveloped single-stranded rna virus. Similar to hepatitis A, its incubation period is 15-60 days and is enterically transmitted, usually by fecal-oral transmission. phenio_relaxed_subqs.owl MONDO:0005789 biolink:NamedThing hepatitis D virus infection Inflammation of the liver in humans caused by hepatitis delta virus, a defective rna virus that can only infect hepatitis B patients. For its viral coating, hepatitis delta virus requires the hepatitis B surface antigens produced by these patients. Hepatitis D can occur either concomitantly with (coinfection) or subsequent to (superinfection) hepatitis B infection. Similar to hepatitis B, it is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact. phenio_relaxed_subqs.owl MONDO:0025085 biolink:NamedThing hepatitis, viral, animal Inflammation of the liver in animals due to viral infection. phenio_relaxed_subqs.owl NCIT:C35124 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_3738000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0004196 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0042842 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007016 biolink:NamedThing vitamin A deficiency Deficiency of vitamin A due to malnutrition, malabsorption, or dietary lack. It is manifested with reduced night vision, night blindness, and xerophthalmia. phenio_relaxed_subqs.owl OBO:ICD9_264.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014802 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85220 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_72000004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001237 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0042847 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014806 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131684 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_190634004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0042850 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0042976 biolink:NamedThing vitamin B deficiency A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat. phenio_relaxed_subqs.owl OBO:MESH_D014804 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004574 biolink:NamedThing pyridoxine deficiency anemia Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia. phenio_relaxed_subqs.owl NCIT:C35129 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_47903000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0042870 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0100471 biolink:NamedThing vitamin D deficiency Abnormally low level of 25-hydroxyvitamin D in the blood. phenio_relaxed_subqs.owl DOID:10574 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E55 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_268 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014808 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C114830 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_34713006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0003762 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0042880 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001244 biolink:NamedThing vitamin K deficiency hemorrhagic disease Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding. phenio_relaxed_subqs.owl UMLS:C0272348 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11249 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E56.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_269.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014813 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C99108 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_52675005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0042904 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9723 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_360.04 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_48142003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0042974 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019565 biolink:NamedThing hereditary von Willebrand disease Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N). phenio_relaxed_subqs.owl DOID:12531 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007867 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C531844 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008332 biolink:NamedThing pseudo-von Willebrand disease Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia. phenio_relaxed_subqs.owl MONDO:0008668 biolink:NamedThing von Willebrand disease 1 Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF). phenio_relaxed_subqs.owl MONDO:0010191 biolink:NamedThing von Willebrand disease 3 Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII). phenio_relaxed_subqs.owl MONDO:0010756 biolink:NamedThing Von Willebrand disease, X-linked form phenio_relaxed_subqs.owl MONDO:0013304 biolink:NamedThing von Willebrand disease 2 Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF). phenio_relaxed_subqs.owl OBO:SCTID_234446004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:903 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0043019 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3522 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009263 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014854 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84807 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_78569004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001011 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0043037 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001209 biolink:NamedThing common wart A wart caused by human papillomavirus. It can appear anywhere on the skin. phenio_relaxed_subqs.owl DOID:11165 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_078.10 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014860 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27087 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_57019003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0043049 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0022007 biolink:NamedThing water intoxication A condition resulting from the excessive retention of water with sodium depletion. phenio_relaxed_subqs.owl OBO:MESH_D014869 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_71785001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0043068 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9931 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009449 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A39.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_036.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014884 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85225 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_36102002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007544 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100067 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0043119 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010196 biolink:NamedThing Werner syndrome Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders. phenio_relaxed_subqs.owl DOID:5688 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007885 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014898 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3447 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:277700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_51626007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:902 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0043121 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007020 biolink:NamedThing Wernicke encephalopathy An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. thiamine deficiency and chronic alcoholism are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to korsakoff syndrome. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3) phenio_relaxed_subqs.owl DOID:2384 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E51.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014899 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_21007002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001241 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:97354 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0043152 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D050072 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_82642007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0043153 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014912 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0043167 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1116 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008692 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014917 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85231 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_27836007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000650 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1489 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0043194 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9169 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007895 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_D82.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014923 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3448 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:301000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_36070007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:906 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0043195 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3047 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014924 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007547 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0043207 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018105 biolink:NamedThing Wolfram syndrome Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2). phenio_relaxed_subqs.owl UMLS:CN184630 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10632 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007898 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014929 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009101 biolink:NamedThing Wolfram syndrome 1 Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene. phenio_relaxed_subqs.owl MONDO:0010800 biolink:NamedThing Wolfram syndrome, mitochondrial form phenio_relaxed_subqs.owl MONDO:0011502 biolink:NamedThing Wolfram syndrome 2 Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene. phenio_relaxed_subqs.owl NCIT:C35133 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_70694009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3463 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0043208 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019148 biolink:NamedThing Wolman disease Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues. phenio_relaxed_subqs.owl UMLS:CN438428 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14497 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007899 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015223 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010205 biolink:NamedThing Wolman disease with hypolipoproteinemia and acanthocytosis phenio_relaxed_subqs.owl NCIT:C61271 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_82500001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:75233 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0043325 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002615 biolink:NamedThing xanthomatosis A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells. phenio_relaxed_subqs.owl DOID:3345 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_63103006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0043346 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050427 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007910 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_Q82.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014983 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008690 biolink:NamedThing xeroderma pigmentosum, autosomal dominant, mild phenio_relaxed_subqs.owl MONDO:0010210 biolink:NamedThing xeroderma pigmentosum group A Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene. phenio_relaxed_subqs.owl MONDO:0010211 biolink:NamedThing xeroderma pigmentosum group C An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair. phenio_relaxed_subqs.owl MONDO:0010212 biolink:NamedThing xeroderma pigmentosum group D Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene. phenio_relaxed_subqs.owl MONDO:0010213 biolink:NamedThing xeroderma pigmentosum group E An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer. phenio_relaxed_subqs.owl MONDO:0010214 biolink:NamedThing xeroderma pigmentosum variant type Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer. phenio_relaxed_subqs.owl MONDO:0010215 biolink:NamedThing xeroderma pigmentosum group F Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene. phenio_relaxed_subqs.owl MONDO:0010216 biolink:NamedThing xeroderma pigmentosum group G Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene. phenio_relaxed_subqs.owl MONDO:0012531 biolink:NamedThing xeroderma pigmentosum group B Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene. phenio_relaxed_subqs.owl NCIT:C3452 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_44600005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:910 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0043349 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3665609 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10138 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014985 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34503 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_363677007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0043388 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006019 biolink:NamedThing yaws An endemic, infectious, nonvenereal disease in humans that presents mainly in children younger than 15 years. The disease occurs primarily in warm, humid, tropical areas of Africa, Asia, South America, and Oceania, among poor rural populations where conditions of overcrowding and poor sanitation prevail. Infection with Treponema pertenue, a subspecies of Treponema pallidum, causes the disease. phenio_relaxed_subqs.owl DOID:10371 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007913 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A66 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_102.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015001 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001066 biolink:NamedThing late yaws Late yaws is the tertiary, non-contagious stage of yaws, endemic tropical treponemal nonvenereal infection. Late yaws is characterized by destructive and deforming lesions of the skin, bones, and joints. phenio_relaxed_subqs.owl MONDO:0001067 biolink:NamedThing early yaws Early yaws includes primary and secondary stages of yaws, endemic tropical treponemal nonvenereal infection: development of initial lesion at inoculation site followed by widespread dissemination of treponemes and generalized secondary granulomatous lesions that may relapse repeatedly. phenio_relaxed_subqs.owl MONDO:0040925 biolink:NamedThing latent yaws phenio_relaxed_subqs.owl MONDO:0042452 biolink:NamedThing tertiary lesion of yaws phenio_relaxed_subqs.owl NCIT:C41353 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_70647001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007548 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0043395 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020502 biolink:NamedThing yellow fever Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure. phenio_relaxed_subqs.owl UMLS:C0043397 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0043398 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9682 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007914 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015004 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35547 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99829 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0043410 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007024 biolink:NamedThing Yersinia pseudotuberculosis infectious disease Infections with bacteria of the species yersinia pseudotuberculosis. phenio_relaxed_subqs.owl OBO:MESH_D015012 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0041535 biolink:NamedThing mesenteric lymphadenitis due to Yersinia infection An mesenteric lymphadenitis caused by infection with Yersinia pseudotuberculosis. phenio_relaxed_subqs.owl MONDO:0041536 biolink:NamedThing Far-East scarlet-like fever A severe inflammatory disease that occurs sporadically and in outbreaks in Russia and Japan, caused by Yersinia pseudotubuclosis infection, an organism that typically causes self-limiting gastroenteritis in Europe. phenio_relaxed_subqs.owl OBO:SCTID_36753006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001246 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0043459 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019609 biolink:NamedThing Zellweger spectrum disorders The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction. phenio_relaxed_subqs.owl DOID:905 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007917 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E71.510 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015211 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013945 biolink:NamedThing peroxisome biogenesis disorder 9B phenio_relaxed_subqs.owl MONDO:0100259 biolink:NamedThing peroxisome biogenesis disorder due to PEX1 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene. phenio_relaxed_subqs.owl MONDO:0100260 biolink:NamedThing peroxisome biogenesis disorder due to PEX2 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX2 gene. phenio_relaxed_subqs.owl MONDO:0100261 biolink:NamedThing peroxisome biogenesis disorder due to PEX3 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX3 gene. phenio_relaxed_subqs.owl MONDO:0100262 biolink:NamedThing peroxisome biogenesis disorder due to PEX5 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX5 gene. phenio_relaxed_subqs.owl MONDO:0100263 biolink:NamedThing peroxisome biogenesis disorder due to PEX6 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX6 gene. phenio_relaxed_subqs.owl MONDO:0100264 biolink:NamedThing peroxisome biogenesis disorder due to PEX10 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX10 gene. phenio_relaxed_subqs.owl MONDO:0100266 biolink:NamedThing peroxisome biogenesis disorder due to PEX12 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX12 gene. phenio_relaxed_subqs.owl MONDO:0100267 biolink:NamedThing peroxisome biogenesis disorder due to PEX13 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX13 gene. phenio_relaxed_subqs.owl MONDO:0100268 biolink:NamedThing peroxisome biogenesis disorder due to PEX14 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX14 gene. phenio_relaxed_subqs.owl MONDO:0100269 biolink:NamedThing peroxisome biogenesis disorder due to PEX16 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX16 gene. phenio_relaxed_subqs.owl MONDO:0100270 biolink:NamedThing peroxisome biogenesis disorder due to PEX19 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX19 gene. phenio_relaxed_subqs.owl MONDO:0100271 biolink:NamedThing peroxisome biogenesis disorder due to PEX26 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX26 gene. phenio_relaxed_subqs.owl MONDO:0100279 biolink:NamedThing peroxisome biogenesis disorder due to PEX11B defect Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX11B gene. phenio_relaxed_subqs.owl NCIT:C85239 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_88469006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:912 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0043515 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050782 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007918 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015043 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3453 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_53132006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007549 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:913 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0043528 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0025481 biolink:NamedThing zoonosis An infectious disease of non-human animals that may be transmitted to humans or may be transmitted from humans to non-human animals, caused by a pathogen (an infectious agent, including bacteria, viruses, parasites, prions, etc). phenio_relaxed_subqs.owl OBO:MESH_D015047 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35803 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0043541 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8485 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010224 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B46 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_117.7 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009091 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020096 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000302 biolink:NamedThing basidiobolomycosis A disease caused by infection with Basidiobolus. phenio_relaxed_subqs.owl NCIT:C77212 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_59277005 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_76627001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007380 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:73263 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0078918 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018910 biolink:NamedThing oculocutaneous albinism Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7. phenio_relaxed_subqs.owl DOID:0050632 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010958 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016115 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008745 biolink:NamedThing oculocutaneous albinism type 1A Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves. phenio_relaxed_subqs.owl MONDO:0008746 biolink:NamedThing oculocutaneous albinism type 2 Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm. phenio_relaxed_subqs.owl MONDO:0008747 biolink:NamedThing oculocutaneous albinism type 3 Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population. phenio_relaxed_subqs.owl MONDO:0011683 biolink:NamedThing oculocutaneous albinism type 4 Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. phenio_relaxed_subqs.owl MONDO:0014070 biolink:NamedThing oculocutaneous albinism type 7 Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination. phenio_relaxed_subqs.owl MONDO:0014127 biolink:NamedThing oculocutaneous albinism type 5 Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered. phenio_relaxed_subqs.owl MONDO:0018135 biolink:NamedThing oculocutaneous albinism type 1 Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS). phenio_relaxed_subqs.owl MONDO:0018264 biolink:NamedThing oculocutaneous albinism type 6 A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity. phenio_relaxed_subqs.owl MONDO:0030899 biolink:NamedThing oculocutaneous albinism type 8 phenio_relaxed_subqs.owl MONDO:0040654 biolink:NamedThing autosomal dominant oculocutaneous albinism Autosomal dominant form of oculocutaneous albinism. phenio_relaxed_subqs.owl NCIT:C84941 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_203100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_63844009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:55 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0079298 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017610 biolink:NamedThing epidermolysis bullosa simplex Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma. phenio_relaxed_subqs.owl DOID:4644 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010752 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_Q81.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016110 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007550 biolink:NamedThing epidermolysis bullosa simplex 1A, generalized severe A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration. phenio_relaxed_subqs.owl MONDO:0007551 biolink:NamedThing epidermolysis bullosa simplex 1C, localized A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather. phenio_relaxed_subqs.owl MONDO:0007554 biolink:NamedThing epidermolysis bullosa simplex 1B, generalized intermediate Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction. phenio_relaxed_subqs.owl MONDO:0007555 biolink:NamedThing pidermolysis bullosa simplex 5A, Ogna type A basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering. phenio_relaxed_subqs.owl MONDO:0007556 biolink:NamedThing epidermolysis bullosa simplex 2F, with mottled pigmentation A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation. phenio_relaxed_subqs.owl MONDO:0010976 biolink:NamedThing epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering. phenio_relaxed_subqs.owl MONDO:0012190 biolink:NamedThing nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome phenio_relaxed_subqs.owl MONDO:0012258 biolink:NamedThing epidermolysis bullosa simplex 2E, with migratory circinate erythema A basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. phenio_relaxed_subqs.owl MONDO:0012807 biolink:NamedThing epidermolysis bullosa simplex 5C, with pyloric atresia A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia. phenio_relaxed_subqs.owl MONDO:0014014 biolink:NamedThing epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive phenio_relaxed_subqs.owl MONDO:0014180 biolink:NamedThing epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency phenio_relaxed_subqs.owl MONDO:0014661 biolink:NamedThing epidermolysis bullosa simplex with nail dystrophy phenio_relaxed_subqs.owl MONDO:0015006 biolink:NamedThing epidermolysis bullosa simplex 6, generalized, with scarring and hair loss phenio_relaxed_subqs.owl MONDO:0015550 biolink:NamedThing suprabasal epidermolysis bullosa simplex A form of epidermolysis bullosa simplex in which blistering occurs above the basal keratinocytes. phenio_relaxed_subqs.owl MONDO:0016514 biolink:NamedThing epidermolysis bullosa simplex with anodontia/hypodontia phenio_relaxed_subqs.owl MONDO:0030489 biolink:NamedThing epidermolysis bullosa simplex 2A, generalized severe phenio_relaxed_subqs.owl MONDO:0030525 biolink:NamedThing epidermolysis bullosa simplex 2B, generalized intermediate phenio_relaxed_subqs.owl MONDO:0030527 biolink:NamedThing epidermolysis bullosa simplex 2C, localized phenio_relaxed_subqs.owl MONDO:0030535 biolink:NamedThing epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive phenio_relaxed_subqs.owl MONDO:0035684 biolink:NamedThing epidermolysis bullosa simplex without extracutaneous involvement phenio_relaxed_subqs.owl MONDO:0035685 biolink:NamedThing epidermolysis bullosa simplex with extracutaneous involvement phenio_relaxed_subqs.owl NCIT:C84692 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_131760 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_67144006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:304 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0079301 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017612 biolink:NamedThing junctional epidermolysis bullosa Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation. phenio_relaxed_subqs.owl DOID:3209 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002152 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016109 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009177 biolink:NamedThing late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome phenio_relaxed_subqs.owl MONDO:0009180 biolink:NamedThing junctional epidermolysis bullosa, non-Herlitz type Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia. phenio_relaxed_subqs.owl MONDO:0009182 biolink:NamedThing junctional epidermolysis bullosa Herlitz type Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes. phenio_relaxed_subqs.owl MONDO:0009183 biolink:NamedThing junctional epidermolysis bullosa with pyloric atresia Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract. phenio_relaxed_subqs.owl MONDO:0009513 biolink:NamedThing laryngo-onycho-cutaneous syndrome LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. phenio_relaxed_subqs.owl MONDO:0013881 biolink:NamedThing congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair. phenio_relaxed_subqs.owl MONDO:0019308 biolink:NamedThing junctional epidermolysis bullosa inversa Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina. phenio_relaxed_subqs.owl MONDO:0019309 biolink:NamedThing late-onset junctional epidermolysis bullosa Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood. phenio_relaxed_subqs.owl NCIT:C90598 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_226650 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_79855003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:305 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0079335 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016181 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0079541 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016296 biolink:NamedThing holoprosencephaly Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity. phenio_relaxed_subqs.owl DOID:4621 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006665 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_Q04.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016142 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007733 biolink:NamedThing holoprosencephaly 3 Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene. phenio_relaxed_subqs.owl MONDO:0007734 biolink:NamedThing holoprosencephaly 4 A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis. phenio_relaxed_subqs.owl MONDO:0007999 biolink:NamedThing holoprosencephaly 2 A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene. phenio_relaxed_subqs.owl MONDO:0009349 biolink:NamedThing holoprosencephaly 1 The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22. phenio_relaxed_subqs.owl MONDO:0011616 biolink:NamedThing holoprosencephaly 6 A holoprosencephaly that has material basis in variation in the chromosome region 2q37.1-q37.3. phenio_relaxed_subqs.owl MONDO:0012267 biolink:NamedThing holoprosencephaly 8 A holoprosencephaly that has material basis in variation in the chromosome region 14q13. phenio_relaxed_subqs.owl MONDO:0012322 biolink:NamedThing holoprosencephaly 5 Holoprosencephaly associated with mutations in the ZIC2 gene. phenio_relaxed_subqs.owl MONDO:0012562 biolink:NamedThing holoprosencephaly 7 Any holoprosencephaly in which the cause of the disease is a mutation in the PTCH1 gene. phenio_relaxed_subqs.owl MONDO:0012563 biolink:NamedThing holoprosencephaly 9 Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene. phenio_relaxed_subqs.owl MONDO:0012927 biolink:NamedThing chromosome 1q41-q42 deletion syndrome 1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease. phenio_relaxed_subqs.owl MONDO:0013642 biolink:NamedThing holoprosencephaly 11 Any holoprosencephaly in which the cause of the disease is a mutation in the CDON gene. phenio_relaxed_subqs.owl MONDO:0016355 biolink:NamedThing semilobar holoprosencephaly Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly. phenio_relaxed_subqs.owl MONDO:0017218 biolink:NamedThing septopreoptic holoprosencephaly Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion. phenio_relaxed_subqs.owl MONDO:0019756 biolink:NamedThing lobar holoprosencephaly Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally. phenio_relaxed_subqs.owl MONDO:0019757 biolink:NamedThing alobar holoprosencephaly Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure. phenio_relaxed_subqs.owl MONDO:0019758 biolink:NamedThing midline interhemispheric variant of holoprosencephaly Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter. phenio_relaxed_subqs.owl MONDO:0026763 biolink:NamedThing holoprosencephaly 13, X-linked phenio_relaxed_subqs.owl MONDO:0032787 biolink:NamedThing holoprosencephaly 12 with or without pancreatic agenesis phenio_relaxed_subqs.owl NCIT:C74988 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_236100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_30915001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2162 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0079584 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007810 biolink:NamedThing autosomal dominant ichthyosis vulgaris Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern. phenio_relaxed_subqs.owl DOID:1702 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001897 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_Q80.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016112 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0100474 biolink:NamedThing mild ichthyosis vulgaris An instance of ichthyosis vulgaris in which the disease presentation is mild in severity. Heterozygote FLG mutation carriers often have mild manifestations. phenio_relaxed_subqs.owl MONDO:0100475 biolink:NamedThing severe ichthyosis vulgaris An instance of ichthyosis vulgaris in which the disease presentation is severe in severity. Homozygous FLG mutation carriers often have more severe manifestations. phenio_relaxed_subqs.owl OMIM:146700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254157005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:462 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0079588 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010622 biolink:NamedThing recessive X-linked ichthyosis A genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin. phenio_relaxed_subqs.owl DOID:1700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007904 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010223 biolink:NamedThing ichthyosis, X-linked, without steroid sulfatase deficiency phenio_relaxed_subqs.owl NCIT:C84779 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:308100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_3944006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:461 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0079680 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0022034 biolink:NamedThing lentivirus infection Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection. phenio_relaxed_subqs.owl OBO:MESH_D016180 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005163 biolink:NamedThing simian immunodeficiency virus infection An infection affecting monkeys, chimpanzees, and other non human primates caused by a HIV-like virus. phenio_relaxed_subqs.owl EFO:1001357 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0080024 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008244 biolink:NamedThing piebaldism Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes. phenio_relaxed_subqs.owl DOID:3263 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004344 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016116 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85009 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:172800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_6479008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2884 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0080040 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4952 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004454 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016262 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_31097004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007454 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2942 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0080151 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0025484 biolink:NamedThing simian acquired immunodeficiency syndrome Acquired defect of cellular immunity that occurs naturally in macaques infected with srv serotypes, experimentally in monkeys inoculated with srv or mason-pfizer monkey virus; (mpmv), or in monkeys infected with simian immunodeficiency virus. phenio_relaxed_subqs.owl OBO:MESH_D016097 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0080323 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016182 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007542 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085077 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000521 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016463 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85177 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608068 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_84625002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3243 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085078 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205533 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3211 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016464 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008705 biolink:NamedThing lysosomal acid phosphatase deficiency phenio_relaxed_subqs.owl MONDO:0009296 biolink:NamedThing glycoprotein storage disease phenio_relaxed_subqs.owl MONDO:0009940 biolink:NamedThing pycnodysostosis Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery. phenio_relaxed_subqs.owl MONDO:0013342 biolink:NamedThing hereditary spastic paraplegia 48 Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported. phenio_relaxed_subqs.owl MONDO:0017731 biolink:NamedThing glycoproteinosis phenio_relaxed_subqs.owl MONDO:0017736 biolink:NamedThing disorder of sialic acid metabolism phenio_relaxed_subqs.owl MONDO:0017738 biolink:NamedThing lysosomal glycogen storage disease phenio_relaxed_subqs.owl MONDO:0019246 biolink:NamedThing inborn disorder of lysosomal amino acid transport phenio_relaxed_subqs.owl NCIT:C61250 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_23585005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:68366 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085083 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5425 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016471 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608115 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_129635004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:64739 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085110 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015974 biolink:NamedThing severe combined immunodeficiency Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells. phenio_relaxed_subqs.owl DOID:627 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007628 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016511 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000572 biolink:NamedThing recombinase activating gene 1 deficiency A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. phenio_relaxed_subqs.owl MONDO:0000573 biolink:NamedThing recombinase activating gene 2 deficiency A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. phenio_relaxed_subqs.owl MONDO:0005511 biolink:NamedThing janus kinase-3 deficiency Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency. phenio_relaxed_subqs.owl MONDO:0011132 biolink:NamedThing T-cell immunodeficiency, congenital alopecia, and nail dystrophy A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12. phenio_relaxed_subqs.owl MONDO:0012426 biolink:NamedThing immunodeficiency 25 Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene. phenio_relaxed_subqs.owl MONDO:0014280 biolink:NamedThing immunodeficiency 19 Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene. phenio_relaxed_subqs.owl MONDO:0017855 biolink:NamedThing T-B- severe combined immunodeficiency T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types. phenio_relaxed_subqs.owl MONDO:0022620 biolink:NamedThing CD4 deficiency phenio_relaxed_subqs.owl MONDO:0029134 biolink:NamedThing severe combined immunodeficiency due to CARMIL2 deficiency phenio_relaxed_subqs.owl MONDO:0034054 biolink:NamedThing severe combined immunodeficiency due to CD70 deficiency phenio_relaxed_subqs.owl MONDO:0044200 biolink:NamedThing T-B+ severe combined immunodeficiency T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. phenio_relaxed_subqs.owl MONDO:0044201 biolink:NamedThing T+ B+ severe combined immunodeficiency phenio_relaxed_subqs.owl NCIT:C3472 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_31323000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:183660 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085131 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3322 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010891 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016537 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009260 biolink:NamedThing GM1 gangliosidosis type 1 GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations. phenio_relaxed_subqs.owl MONDO:0009261 biolink:NamedThing GM1 gangliosidosis type 2 GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age. phenio_relaxed_subqs.owl MONDO:0009262 biolink:NamedThing GM1 gangliosidosis type 3 GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction. phenio_relaxed_subqs.owl NCIT:C84739 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_124465002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:354 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085132 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12803 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007096 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016538 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84903 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:253220 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_43916004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:584 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085164 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016582 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085166 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005316 biolink:NamedThing bacterial vaginosis Infection caused by bacterial overgrowth in the vagina. Most affected women are asymptomatic. When symptoms occur, they include foul-smelling vaginal discharge, vaginal itching, and burning. Risk factors include sexual activity with multiple partners and the use of vaginal douches and intrauterine devices. Up to a third of cases resolve without treatment. Antibiotic treatment is recommended when symptoms are present and for women that are pregnant at the time of infection. phenio_relaxed_subqs.owl DOID:3385 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016585 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C116973 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_419760006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0003932 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085207 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11714 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016640 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34942 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_11687002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0004593 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085215 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5426 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E28.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016649 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010349 biolink:NamedThing ovarian dysgenesis 2 Any primary ovarian failure in which the cause of the disease is a mutation in the BMP15 gene. phenio_relaxed_subqs.owl MONDO:0019851 biolink:NamedThing acquired primary ovarian failure An instance of primary ovarian failure that is acquired during the lifetime of the individual. phenio_relaxed_subqs.owl MONDO:0019852 biolink:NamedThing inherited primary ovarian failure An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0044338 biolink:NamedThing autoimmune primary ovarian failure An autoimmune form of primary ovarian failure. phenio_relaxed_subqs.owl NCIT:C113352 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_370999003 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_65846009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0004266 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:619 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085253 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019355 biolink:NamedThing adult-onset Still disease A rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash. phenio_relaxed_subqs.owl UMLS:CN206037 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14256 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000436 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016706 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_239920006 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_68190001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007135 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:829 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085273 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006544 biolink:NamedThing erythema infectiosum A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern. phenio_relaxed_subqs.owl DOID:8743 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_057.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016731 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84695 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_34730008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000693 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085278 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2988 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_D68.61 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016736 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005204 biolink:NamedThing primary antiphospholipid syndrome An antiphospholipid syndrome that occurs as an isolated disorder. phenio_relaxed_subqs.owl MONDO:0018737 biolink:NamedThing catastrophic antiphospholipid syndrome phenio_relaxed_subqs.owl MONDO:0021008 biolink:NamedThing secondary antiphospholipid syndrome An antiphospholipid syndrome that occurs alongside another autoimmune disorder. phenio_relaxed_subqs.owl MONDO:8000014 biolink:NamedThing familial antiphospholipid syndrome Autosomal dominant form of antiphospholipid syndrome. phenio_relaxed_subqs.owl NCIT:C61283 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_26843008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:80 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085280 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007318 biolink:NamedThing Alagille syndrome Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys. phenio_relaxed_subqs.owl DOID:9245 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000804 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016738 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012439 biolink:NamedThing Alagille syndrome due to a NOTCH2 point mutation phenio_relaxed_subqs.owl MONDO:0016861 biolink:NamedThing Alagille syndrome due to 20p12 microdeletion phenio_relaxed_subqs.owl MONDO:0016862 biolink:NamedThing Alagille syndrome due to a JAG1 point mutation phenio_relaxed_subqs.owl NCIT:C35139 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_118450 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_31742004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:52 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085292 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13366 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005023 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_333.91 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016750 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018581 biolink:NamedThing progressive encephalomyelitis with rigidity and myoclonus phenio_relaxed_subqs.owl MONDO:0018625 biolink:NamedThing classic stiff person syndrome phenio_relaxed_subqs.owl MONDO:0018629 biolink:NamedThing focal stiff limb syndrome phenio_relaxed_subqs.owl NCIT:C85170 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:184850 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_5217008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007498 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3198 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085293 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4411 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009541 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016751 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_7111000119109 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007303 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085306 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016766 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085308 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005704 biolink:NamedThing Ciliophora infectious disease Infections with protozoa of the phylum ciliophora. phenio_relaxed_subqs.owl OBO:MESH_D016770 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007209 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085388 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2607948 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1638 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_186217006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007199 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085389 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006923 biolink:NamedThing Bacillaceae infectious disease Infections with bacteria of the family bacillaceae. phenio_relaxed_subqs.owl OBO:MESH_D016863 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001124 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085390 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3012 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006902 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016864 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007903 biolink:NamedThing Li-Fraumeni syndrome 1 Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the TP53 gene. phenio_relaxed_subqs.owl MONDO:0012233 biolink:NamedThing Li-Fraumeni syndrome 2 Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the CHEK2 gene. phenio_relaxed_subqs.owl NCIT:C3476 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_151623 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_428850001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:524 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085392 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006705 biolink:NamedThing Bacteroidaceae infectious disease Infections with bacteria of the family BACTEROIDACEAE. phenio_relaxed_subqs.owl OBO:MESH_D016866 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000872 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085399 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016003 biolink:NamedThing ehrlichiosis Human ehrlichiosis and anaplasmosis describe a group of acute febrile tick-borne diseases characterized by an overlapping clinical picture that includes fever, headache, myalgias, arthralgias, skin eruptions, gastrointestinal symptoms and neurological manifestations. Diseases in this group include human monocytotropic ehrlichiosis (HME), human granulocytotropic anaplasmosis (HGA), and human ehrlichiosis ewingii (HEE). phenio_relaxed_subqs.owl DOID:10242 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002092 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016873 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000225 biolink:NamedThing human monocytic ehrlichiosis A form of ehrlichiosis associated with Ehrlichia chaffeensis, an obligate intracellular pathogen affecting monocytes and macrophages. phenio_relaxed_subqs.owl MONDO:0000332 biolink:NamedThing sennetsu fever An ehlrichiosis caused by Neorickettsia sennetsu. phenio_relaxed_subqs.owl MONDO:0005118 biolink:NamedThing human granulocytic ehrlichiosis A tick-borne, infectious disease caused by Anaplasma phagocytophilum, an obligate intracellular bacterium that is typically transmitted to humans by ticks of the Ixodes ricinus species complex. phenio_relaxed_subqs.owl OBO:SCTID_240626005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1902 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085404 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017364 biolink:NamedThing POEMS syndrome POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels. phenio_relaxed_subqs.owl DOID:14039 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007411 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016878 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C80303 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_79268002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001115 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2905 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085407 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4271 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003655 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016881 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005743 biolink:NamedThing encephalitozoonosis Infection with fungi of the genus encephalitozoon. Lesions commonly occur in the brain and kidney tubules. Other sites of infection in mammals are the liver; adrenal glands; optic nerves; retina; and myocardium. phenio_relaxed_subqs.owl NCIT:C84891 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_699676006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007366 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2552 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085409 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4316913 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14040 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E31.0 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009411 biolink:NamedThing autoimmune polyendocrine syndrome type 1 Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure. phenio_relaxed_subqs.owl MONDO:0010012 biolink:NamedThing autoimmune polyendocrinopathy type 2 Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis. phenio_relaxed_subqs.owl MONDO:0013599 biolink:NamedThing autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia. phenio_relaxed_subqs.owl MONDO:0016422 biolink:NamedThing autoimmune polyendocrinopathy type 3 Autoimmune polyendocrinopathy type 3 is a rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease. phenio_relaxed_subqs.owl MONDO:0016423 biolink:NamedThing autoimmune polyendocrinopathy type 4 phenio_relaxed_subqs.owl NCIT:C129726 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84576 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_41864002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:282196 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085412 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4270 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016890 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_12825006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007250 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085434 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060345 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016917 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3477 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_58213005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085437 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9470 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005881 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_320.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016920 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000889 biolink:NamedThing haemophilus meningitis Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults. phenio_relaxed_subqs.owl MONDO:0002000 biolink:NamedThing anaerobic meningitis phenio_relaxed_subqs.owl MONDO:0006753 biolink:NamedThing Escherichia coli meningitis A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as opportunistic infections in association with immunologic deficiency syndromes. In premature neonates the clinical presentation may be limited to anorexia; vomiting; lethargy; or respiratory distress. Full-term infants may have as additional features fever; seizures; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400) phenio_relaxed_subqs.owl MONDO:0041825 biolink:NamedThing bacterial meningitis caused by gram-negative bacteria phenio_relaxed_subqs.owl NCIT:C118297 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_95883001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000831 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085438 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006764 biolink:NamedThing fungal meningitis Meningitis caused by fungal agents which may occur as opportunistic infections or arise in immunocompetent hosts. phenio_relaxed_subqs.owl DOID:11608 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016921 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001471 biolink:NamedThing histoplasmosis meningitis An infectious meningitis caused by infection with Histoplasma capsulatum. phenio_relaxed_subqs.owl OBO:SCTID_24321005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000942 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085548 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009889 biolink:NamedThing autosomal recessive polycystic kidney disease Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement. phenio_relaxed_subqs.owl DOID:0110861 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008378 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_753.14 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0033004 biolink:NamedThing polycystic kidney disease 4 A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene. phenio_relaxed_subqs.owl MONDO:0033281 biolink:NamedThing polycystic kidney disease 5 Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene. phenio_relaxed_subqs.owl NCIT:C84579 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_28770003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:731 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085568 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050456 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D054312 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84604 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_15845006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001281 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085574 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1166 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007304 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_M12.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_719.30 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538103 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_50442003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085614 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050821 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_426.11 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C62015 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_270492004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085652 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018824 biolink:NamedThing pyoderma gangrenosum Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate. phenio_relaxed_subqs.owl DOID:8553 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007510 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_L88 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_686.01 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017511 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0035235 biolink:NamedThing classic pyoderma gangrenosum A rare subtype of pyoderma gangrenosum disease characterized by rapidly progressive, single or multiple, painful, aseptic ulcers which present overhanging, violaceous and undermined borders, surrounding induration and erythema, and granulation tissue (occasionally necrotic tissue and/or a purulent exudate) at the base, mainly affecting the legs (but other body surfaces may also be involved), leading to chronic ulcerations and often regressing with cribriform mutilating scars. The disease presents a chronic relapsing course and systemic features (e.g. fever, malaise, arthralgia, myalgia) may be associated. phenio_relaxed_subqs.owl MONDO:0035236 biolink:NamedThing pustular pyoderma gangrenosum A rare subtype of pyoderma gangrenosum characterized by multiple painful, sterile pustules with a surrounding erythematous halo, predominantly occurring on the trunk and extensor surfaces of the limbs, and potentially persisting for months. Histopathology shows a dermal neutrophilic infiltrate and subcorneal neutrophilic micropustules. The condition is commonly associated with inflammatory bowel disease. phenio_relaxed_subqs.owl MONDO:0035237 biolink:NamedThing bullous pyoderma gangrenosum A rare subtype of pyoderma gangrenosum disease characterized by grouped vesicles that rapidly spread and coalesce to form large bullae, which evolve into ulcerations that have an erythematous peripheral halo and central necrosis, mainly affecting the upper limbs and face. Lymphoproliferative diseases are frequently associated, thus prognosis is often compromised. phenio_relaxed_subqs.owl MONDO:0035238 biolink:NamedThing vegetative pyoderma gangrenosum A rare subtype of pyoderma gangrenosum disease characterized by a solitary, erythematous, ulcerated plaque, which lacks the violaceous border typically present in classic pyoderma gangrenosum, usually affecting individuals who are otherwise healthy. Histologically, the lesion presents a central layer containing neutrophilic inflamation, surrounded by a palisade of histiocytes, which are rimmed by a lymphocytic infiltrate. In comparison with the other variants of pyoderma gangrenosum, this subtype usually shows a good response to less aggressive treatments and underlying systemic disorders are less frequently associated. It is considered the most benign and uncommon clinical variant of pyoderma gangrenosum. phenio_relaxed_subqs.owl OBO:SCTID_74578003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0006835 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:48104 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085653 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0022096 biolink:NamedThing pyogenic granuloma A disorder of the skin, the oral mucosa, and the gingiva, that usually presents as a solitary polypoid capillary hemangioma often resulting from trauma. It is manifested as an inflammatory response with similar characteristics to those of a granuloma. phenio_relaxed_subqs.owl OBO:GARD_0010963 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017789 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_200722003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085681 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050459 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D054559 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_20165001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085682 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050336 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017674 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C37977 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_4996001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085697 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1076 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C123216 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_63302006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0085859 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050167 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005558 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008466 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129727 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:240300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_11244009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3453 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0086431 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111389 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012560 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C122782 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607015 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_73123008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93476 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0086588 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006848 biolink:NamedThing marasmus The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses. phenio_relaxed_subqs.owl DOID:12328 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E41 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_261 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_29740003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001033 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0086647 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111395 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002649 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007071 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84897 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:252900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_41572006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79269 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0086648 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111394 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007072 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84898 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:252920 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_59990008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79270 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0086649 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111393 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007073 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84899 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:252930 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_75238000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79271 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0086650 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111402 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007074 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84900 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:252940 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_15892005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79272 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0086652 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111392 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003786 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84902 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:253010 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238044004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309310 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0149507 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006881 biolink:NamedThing orbital cellulitis Inflammation of the eye tissues posterior to the orbital septum, and generally secondary to an infection spread from adjacent sinuses. Signs and symptoms of the affected eye include sudden loss of vision, erythema, edema, decreased eye movement, and pain. Treatment is conducted via intravenous antibiotics, observation, and surgical intervention when necessary. phenio_relaxed_subqs.owl DOID:11234 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_376.01 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D054517 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C99000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_194005002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001076 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0149521 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_577.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D050500 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017227 biolink:NamedThing autoimmune pancreatitis type 1 Type 1 autoimmune pancreatitis is a form of autoimmune pancreatitis seen in elderly males (>60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease. phenio_relaxed_subqs.owl NCIT:C84637 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_235494005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000342 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0149523 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001650 biolink:NamedThing acute cystitis An acute infection of the bladder. It is usually caused by bacteria. Signs and symptoms include increased frequency of urination, pain or burning during urination, fever, cloudy or bloody urine, and suprapubic pain. phenio_relaxed_subqs.owl DOID:13148 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_N30.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_595.0 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001777 biolink:NamedThing acute gonococcal cystitis Acute form of gonococcal cystitis. phenio_relaxed_subqs.owl NCIT:C26934 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_68226007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0149530 biolink:NamedThing phenio_relaxed_subqs.owl DOID:990 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006164 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_Q24.6 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_746.86 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535758 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:234700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_46619002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:60041 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0149678 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005111 biolink:NamedThing Epstein-Barr virus infection An infection that is caused by Epstein-Barr virus. phenio_relaxed_subqs.owl OBO:MESH_D020031 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C38759 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000769 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0149756 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D036981 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_202882003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001909 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0149841 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019008 biolink:NamedThing benign recurrent intrahepatic cholestasis Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC). phenio_relaxed_subqs.owl DOID:0070230 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012185 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009469 biolink:NamedThing benign recurrent intrahepatic cholestasis type 1 Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity. phenio_relaxed_subqs.owl MONDO:0011559 biolink:NamedThing benign recurrent intrahepatic cholestasis type 2 phenio_relaxed_subqs.owl OBO:OMIMPS_243300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_31155007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:65682 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0149881 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9401 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_N45.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_604.90 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_197983000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0149887 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D060048 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:182260 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0149910 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_M12.4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_711286009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:329967 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0149911 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562390 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3496 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_47709007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0149948 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001051 biolink:NamedThing acute otitis externa Acute form of otitis externa. phenio_relaxed_subqs.owl DOID:10518 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002240 biolink:NamedThing acute perichondritis of pinna Acute form of perichondritis of auricle. phenio_relaxed_subqs.owl OBO:SCTID_30250000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0149951 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008168 biolink:NamedThing ovarian fibroma A benign neoplasm arising from soft tissue of the ovary. It is characterized by the presence of spindle-shaped fibroblasts. phenio_relaxed_subqs.owl OBO:MESH_C562391 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3498 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:166970 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254865006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314473 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0149985 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002897 biolink:NamedThing secondary syphilis The secondary stage of syphilis typically that is characterized by generalized rash (including palms and soles), mucocutaneous lesions, and lymphadenopathy. It usually begins one to two months after the primary stage. phenio_relaxed_subqs.owl UMLS:C0343676 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4157 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_091.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536773 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128413 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_240557004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0151463 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060323 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_28432003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0151467 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019801 biolink:NamedThing acute adrenal insufficiency Acute adrenal insufficiency (AAI) is a rare but severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made. phenio_relaxed_subqs.owl MONDO:0017871 biolink:NamedThing bilateral massive adrenal hemorrhage phenio_relaxed_subqs.owl NCIT:C112840 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_24867002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:95409 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0151482 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001860 biolink:NamedThing folic acid deficiency anemia phenio_relaxed_subqs.owl DOID:14026 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_281.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_85649008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0151517 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050823 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_426.0 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C50501 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_27885002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0151638 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090066 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536855 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:227850 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_236469003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0151779 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153535 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153536 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8923 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000929 biolink:NamedThing balloon cell malignant melanoma A rare variant of melanoma with a vertical growth phase. It presents as a nodular or polypoid skin lesion. It is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. The prognosis is similar to that of other melanomas matched for depth of invasion. phenio_relaxed_subqs.owl MONDO:0000930 biolink:NamedThing nodular malignant melanoma An aggressive form of melanoma, frequently metastasizing to the lymph nodes. It presents as a papular or nodular raised skin lesion. It comprises approximately 10-15% of melanomas. Morphologically, it often displays an epithelioid appearance. phenio_relaxed_subqs.owl MONDO:0003865 biolink:NamedThing acral lentiginous melanoma A form of melanoma occurring most often on the plantar, palmar, subungual, and periungual skin. It presents as a pigmented macular lesion with irregular borders. Morphologically, it consists of atypical spindled and dendritic melanocytes. The epidermis is often hyperplastic and there is pagetoid infiltration of the epidermis by anaplastic cells. phenio_relaxed_subqs.owl MONDO:0005208 biolink:NamedThing amelanotic skin melanoma A amelanotic melanoma that involves the zone of skin. phenio_relaxed_subqs.owl MONDO:0020638 biolink:NamedThing superficial spreading melanoma A type of melanoma that typically occurs in light-skinned individuals ranging in age from young adults to the elderly. Risk factors include extensive sun exposure during childhood, a family history of melanoma, and the presence of dysplastic nevi. phenio_relaxed_subqs.owl MONDO:0023619 biolink:NamedThing lentigo maligna melanoma Lentigo maligna melanoma (LMM) is a type of skin cancer that usually develops in older, fair-skinnedadults. The average age of diagnosis is65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible. phenio_relaxed_subqs.owl MONDO:0044785 biolink:NamedThing desmoplastic melanoma A melanoma of the skin characterized by a proliferation of atypical spindled melanocytes in the dermis, in a background of abundant collagen. It usually presents as an amelanotic raised nodular lesion. phenio_relaxed_subqs.owl NCIT:C3510 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_SKCM biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_93655004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000389 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152020 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006769 biolink:NamedThing gastroparesis Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine. phenio_relaxed_subqs.owl DOID:11914 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_K31.84 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018589 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_196753007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000948 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152026 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11563 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_362.18 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D031300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_77628002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001156 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152061 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13035 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A68.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_087.0 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128426 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_14683004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152063 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207435 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13238 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_026.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_52138004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99905 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152066 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13026 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B48.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_116.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D060368 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_47306003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001805 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152067 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004677 biolink:NamedThing tinea nigra A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions. phenio_relaxed_subqs.owl DOID:8912 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B36.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_183342005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152069 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0948954 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12148 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000207 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_122.7 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536591 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_21009004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:284 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152071 biolink:NamedThing phenio_relaxed_subqs.owl DOID:882 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_121.6 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128389 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_22905009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152073 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000367 biolink:NamedThing taeniasis A parasitic infection caused by tapeworms of the genus Taenia. Humans are infected by eating undercooked or raw meat of infected animals. It is usually an asymptomatic infection and patients may become aware of the infection by noticing segments of the tapeworm in their feces. If symptoms are present, they include nausea, abdominal pain, indigestion, constipation, or diarrhea. phenio_relaxed_subqs.owl DOID:0050596 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B68 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_123.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013622 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85180 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_69163003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001433 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152077 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001460 biolink:NamedThing dyshormonogenic goiter phenio_relaxed_subqs.owl DOID:12175 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_246.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_190304001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152095 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018068 biolink:NamedThing trisomy 13 Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation. phenio_relaxed_subqs.owl UMLS:CN204386 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11665 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007341 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_758.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536305 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0700033 biolink:NamedThing complete trisomy 13 Trisomy 13 in which the presence of an extra copy of chromosome 13 is present in all the cells of the organism. phenio_relaxed_subqs.owl MONDO:0700034 biolink:NamedThing mosaic trisomy 13 Trisomy 13 in which the presence of an extra copy of chromosome 13 is present only in some of the cells of the organism. phenio_relaxed_subqs.owl NCIT:C101223 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C36529 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_21111006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3378 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152096 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018071 biolink:NamedThing trisomy 18 Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations. phenio_relaxed_subqs.owl DOID:1085 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006321 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_758.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C580500 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0700031 biolink:NamedThing mosaic trisomy 18 Trisomy 18 in which the presence of an extra copy of chromosome 18 is present only in some of the cells of the organism. phenio_relaxed_subqs.owl MONDO:0700032 biolink:NamedThing complete trisomy 18 Trisomy 18 in which the presence of an extra copy of chromosome 18 is present in all the cells of the organism. phenio_relaxed_subqs.owl NCIT:C36626 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_51500006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3380 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152101 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9955 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006739 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_Q23.4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_746.7 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018636 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009433 biolink:NamedThing hypoplastic left heart syndrome 1 Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the GJA1 gene. phenio_relaxed_subqs.owl MONDO:0013752 biolink:NamedThing hypoplastic left heart syndrome 2 Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene. phenio_relaxed_subqs.owl NCIT:C98894 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_241550 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_62067003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2248 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152109 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009672 biolink:NamedThing spinal muscular atrophy, type III Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. phenio_relaxed_subqs.owl UMLS:C0700595 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12376 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000198 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_335.11 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C118847 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:253400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_54280009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:83419 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152128 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060001 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_292.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D013375 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005433 biolink:NamedThing alcohol withdrawal phenio_relaxed_subqs.owl NCIT:C35046 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_363101005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152166 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001079 biolink:NamedThing pancreatic steatorrhea phenio_relaxed_subqs.owl DOID:10610 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_K90.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_579.4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_54576000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152222 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C54102 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_37991008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152445 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9717 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_K82.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_575.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_47312008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152456 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10254 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_K82.4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_575.6 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_61565001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152516 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000916 biolink:NamedThing intestinal infectious disease An infectious disease involving a pathogenic inflammatory response in the intestinal mucosa. phenio_relaxed_subqs.owl UMLS:C0178238 biolink:NamedThing phenio_relaxed_subqs.owl DOID:100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A00-A09 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_266071000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152793 biolink:NamedThing phenio_relaxed_subqs.owl DOID:754 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_016.10 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_32268008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152800 biolink:NamedThing phenio_relaxed_subqs.owl DOID:827 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_016.20 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_81359005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152814 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1251 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_016.40 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_83652003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152902 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7332 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_017.80 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_15284007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152936 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3481 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A20.7 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_020.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_9012003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007481 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152941 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11990 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A21.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_021.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_37722001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152944 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13226 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A21.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_021.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_73363000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152945 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13386 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A22.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_022.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C571911 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111798006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152952 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_26117009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0152998 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4986 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A80.4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_045.20 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_14535005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153042 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8607 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_054.6 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128402 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_43891009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153064 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019380 biolink:NamedThing western equine encephalitis An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders. phenio_relaxed_subqs.owl DOID:10843 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007888 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A83.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_062.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020241 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85227 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_47523006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007546 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:83593 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153065 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005736 biolink:NamedThing eastern equine encephalitis Eastern equine encephalitis (EEE) is an acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality. phenio_relaxed_subqs.owl DOID:10841 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010821 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A83.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020242 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007242 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:83594 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153066 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001137 biolink:NamedThing Murray valley encephalitis An disease caused by infection with Murray Valley encephalitis virus. phenio_relaxed_subqs.owl DOID:10842 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A83.4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_66454007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153112 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_078.7 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_73730005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007151 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153121 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14325 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_084.5 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_21070001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153139 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002896 biolink:NamedThing primary syphilis The subclinical or symptomatic stage of syphilis, occurring at an average of three weeks after contact with an infected individual. It manifests with one or more painless, indurated ulcers (chancres) of the skin or mucous membranes at the site of inoculation. These lesions heal spontaneously within a few weeks. phenio_relaxed_subqs.owl UMLS:C2931317 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4156 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536772 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128412 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_186846005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153166 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000936 biolink:NamedThing syphilitic meningitis An infectious meningitis caused by infection with Treponema. phenio_relaxed_subqs.owl DOID:10073 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008731 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_094.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536775 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_301086002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153167 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10035 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A52.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_094.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_37754005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153188 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004497 biolink:NamedThing tertiary syphilis A stage of syphilis that occurs fifteen to thirty years after the initial infection; it can include gumma formation and cardiovascular or central nervous system involvement (neurosyphilis). phenio_relaxed_subqs.owl DOID:8200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_095.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_097.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536774 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000363 biolink:NamedThing gummatous syphilis A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ. phenio_relaxed_subqs.owl NCIT:C128414 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_72083004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153191 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13690 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_098.11 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_24868007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153192 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001838 biolink:NamedThing acute gonococcal prostatitis Acute form of gonococcal prostatitis. phenio_relaxed_subqs.owl DOID:13943 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_098.12 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111806005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153193 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001125 biolink:NamedThing acute gonococcal epididymo-orchitis Acute form of gonococcal epididymo-orchitis. phenio_relaxed_subqs.owl DOID:10802 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_098.13 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_30168008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153194 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000222 biolink:NamedThing seminal vesicle acute gonorrhea Acute form of gonococcal seminal vesiculitis. phenio_relaxed_subqs.owl DOID:0050004 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_65049003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153195 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001080 biolink:NamedThing acute gonococcal cervicitis Acute form of gonococcal cervicitis. phenio_relaxed_subqs.owl DOID:10615 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_098.15 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_20943002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153205 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001025 biolink:NamedThing seminal vesicle chronic gonorrhea Chronic form of gonococcal seminal vesiculitis. phenio_relaxed_subqs.owl DOID:10399 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_098.34 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_23975003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153206 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002029 biolink:NamedThing chronic gonorrhea of cervix Chronic form of gonococcal cervicitis. phenio_relaxed_subqs.owl DOID:1512 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_098.35 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_76802005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153208 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001575 biolink:NamedThing chronic gonococcal salpingitis Chronic form of gonococcal salpingitis. phenio_relaxed_subqs.owl DOID:12718 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_53529004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153212 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004774 biolink:NamedThing gonococcal iridocyclitis An iridocyclitis (disease) caused by infection with Neisseria gonorrhoeae. phenio_relaxed_subqs.owl DOID:9384 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A54.32 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_9091006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153213 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9698 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_098.42 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111807001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153214 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9697 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A54.33 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_40149008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153216 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001720 biolink:NamedThing gonococcal synovitis An synovitis (disease) caused by infection with Neisseria gonorrhoeae. phenio_relaxed_subqs.owl OBO:SCTID_44743006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153218 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13453 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_098.52 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_46699001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153219 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13127 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_098.53 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_53664003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153240 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_186973005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153246 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13369 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B35.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_110.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_48971001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153249 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12711 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B36.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_111.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_33666009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007171 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153278 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11316 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_115.92 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_187058000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153279 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10234 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_115.93 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_187059008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153285 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001215 biolink:NamedThing allescheriosis A primary systemic mycosis that results in systemic fungal infection, has material basis in Pseudallescheria boydii, which results in formation of abscesses. phenio_relaxed_subqs.owl DOID:11186 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_117.6 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_80936003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153290 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018408 biolink:NamedThing cystic echinococcosis phenio_relaxed_subqs.owl UMLS:C0153291 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4303092 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1495 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002764 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721822004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153315 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_131.03 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35176 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_71590000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153393 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015459 biolink:NamedThing nasopharyngeal carcinoma A carcinoma arising from the nasopharyngeal epithelium. It includes the following types: keratinizing squamous cell carcinoma, nonkeratinizing carcinoma (differentiated and undifferentiated), basaloid squamous cell carcinoma, and papillary adenocarcinoma. phenio_relaxed_subqs.owl UMLS:C0153394 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153395 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153396 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931822 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3647449 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3665551 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199582 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9261 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_147.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538339 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D00007727 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008067 biolink:NamedThing nasopharyngeal carcinoma, susceptibility to, 2 phenio_relaxed_subqs.owl MONDO:0011775 biolink:NamedThing nasopharyngeal carcinoma, susceptibility to, 1 Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the TP53 gene. phenio_relaxed_subqs.owl MONDO:0021297 biolink:NamedThing carcinoma in situ of nasopharynx A in situ carcinoma that involves the nasopharynx. phenio_relaxed_subqs.owl MONDO:0021537 biolink:NamedThing undifferentiated carcinoma of nasopharynx A undifferentiated carcinoma that involves the nasopharynx. phenio_relaxed_subqs.owl NCIT:C3871 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_NPC biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_363398003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:150 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153452 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3121 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009328 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_156.0 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002857 biolink:NamedThing gallbladder sarcoma A malignant soft tissue neoplasm that arises from the gallbladder. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma. phenio_relaxed_subqs.owl MONDO:0003220 biolink:NamedThing gallbladder carcinoma A carcinoma that arises from epithelial cells of the gall bladder phenio_relaxed_subqs.owl MONDO:0003303 biolink:NamedThing neurofibroma of gallbladder A non-metastasizing encapsulated neoplasm arising from nerves in the gallbladder. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells. phenio_relaxed_subqs.owl MONDO:0004474 biolink:NamedThing gallbladder lymphoma A lymphoma that arises from the gallbladder, with the bulk of the tumor located at this site. phenio_relaxed_subqs.owl NCIT:C7481 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_GBC biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_363353009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0004606 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153477 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001763 biolink:NamedThing ethmoid sinus cancer A malignant neoplasm involving the ethmoid sinus. phenio_relaxed_subqs.owl DOID:1363 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_C31.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_160.3 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002416 biolink:NamedThing ethmoid sinus squamous cell carcinoma A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. phenio_relaxed_subqs.owl MONDO:0002418 biolink:NamedThing ethmoid sinus adenocarcinoma A carcinoma that arises from glandular epithelial cells of the epithelial cell phenio_relaxed_subqs.owl MONDO:0006201 biolink:NamedThing ethmoid sinus adenoid cystic carcinoma An adenoid cystic carcinoma that affects the ethmoid sinus. phenio_relaxed_subqs.owl NCIT:C3541 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_363426009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153478 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001756 biolink:NamedThing frontal sinus cancer A malignant neoplasm involving the frontal sinus. phenio_relaxed_subqs.owl DOID:1360 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_C31.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_160.4 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002301 biolink:NamedThing frontal sinus squamous cell carcinoma A squamous cell carcinoma that arises from the mucosal epithelial surface of the frontal sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. phenio_relaxed_subqs.owl NCIT:C3542 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_363427000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153479 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001994 biolink:NamedThing sphenoidal sinus cancer A malignant neoplasm involving the sphenoidal sinus. phenio_relaxed_subqs.owl DOID:14546 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_C31.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_160.5 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001995 biolink:NamedThing sphenoid sinus squamous cell carcinoma A squamous cell carcinoma that arises from the mucosal epithelial surface of the sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. phenio_relaxed_subqs.owl NCIT:C3543 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_363428005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153572 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002178 biolink:NamedThing placenta cancer A malignant neoplasm involving the placenta. phenio_relaxed_subqs.owl DOID:2021 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006374 biolink:NamedThing placental choriocarcinoma Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur. phenio_relaxed_subqs.owl NCIT:C3555 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_126920004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153595 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001480 biolink:NamedThing malignant tumor of undescended testis phenio_relaxed_subqs.owl DOID:12276 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_186.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_188219004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153656 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8731 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_C75.4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_194.5 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3574 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_447883002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153972 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10206 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_214.4 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3606 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_93162007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153993 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13222 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_D25.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_218.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_95279007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153994 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13955 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_D25.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_218.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_93616000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0153995 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13560 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_218.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_95280005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0154007 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021447 biolink:NamedThing benign neoplasm of testis A benign neoplasm that involves the testis. phenio_relaxed_subqs.owl OBO:ICD9_222.0 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020813 biolink:NamedThing benign testicular sertoli cell tumor A non-metastasizing sex cord-stromal tumor that arises from the testis. Morphologically, it is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. phenio_relaxed_subqs.owl NCIT:C3612 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_92428008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0154038 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006107 biolink:NamedThing benign thyroid gland neoplasm A benign neoplasm arising from the thyroid gland. phenio_relaxed_subqs.owl OBO:ICD9_226 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005032 biolink:NamedThing follicular thyroid adenoma A benign, encapsulated tumor, arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics. phenio_relaxed_subqs.owl NCIT:C3628 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_92439006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000122 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0154040 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021511 biolink:NamedThing benign neoplasm of adrenal gland A benign neoplasm that involves the adrenal gland. phenio_relaxed_subqs.owl OBO:ICD9_227.0 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003924 biolink:NamedThing adrenal cortex adenoma A benign neoplasm that can arise from any of the adrenal cortical layers. It can be associated with the overproduction of glucocorticoids (Cushing's syndrome), androgenic or estrogenic steroids (adrenogenital syndrome), or mineralocorticoids (Conn's syndrome). (Sternberg Diagnostic Surgical Pathology, 3rd ed.) phenio_relaxed_subqs.owl MONDO:0006075 biolink:NamedThing adrenal gland myelolipoma A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues. phenio_relaxed_subqs.owl MONDO:0008233 biolink:NamedThing pheochromocytoma phenio_relaxed_subqs.owl MONDO:0021468 biolink:NamedThing benign neoplasm of adrenal medulla A benign neoplasm that involves the adrenal medulla. phenio_relaxed_subqs.owl NCIT:C3629 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_91967007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0154041 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021463 biolink:NamedThing benign neoplasm of parathyroid gland A benign neoplasm that involves the parathyroid gland. phenio_relaxed_subqs.owl DOID:60008 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_D35.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_227.1 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006890 biolink:NamedThing parathyroid gland adenoma A benign tumor arising from the parenchymal cells of the parathyroid glands. In the vast majority of cases, the tumor involves a single parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. It is usually surrounded by a well-defined capsule. Capsular invasion, vascular invasion, and perineural invasion are absent. phenio_relaxed_subqs.owl NCIT:C3630 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_92272009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0154050 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2517 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_D18.02 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_228.02 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003428 biolink:NamedThing brain hemangioma A hemangioma arising from the brain. phenio_relaxed_subqs.owl MONDO:0003901 biolink:NamedThing cerebellar hemangioblastoma A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26). phenio_relaxed_subqs.owl MONDO:0003902 biolink:NamedThing brain stem hemangioblastoma A hemangioblastoma that involves the brainstem. phenio_relaxed_subqs.owl NCIT:C3633 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_93468003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0154051 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_228.03 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003343 biolink:NamedThing retinal hemangioblastoma A hemangioblastoma that arises from the retina. It is typically a sign of von Hippel-Lindau disease. It may also be seen as an isolated entity without systemic involvement. phenio_relaxed_subqs.owl NCIT:C3634 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_93470007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0154052 biolink:NamedThing phenio_relaxed_subqs.owl DOID:254 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_D18.03 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_228.04 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3635 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_189197001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0154157 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002002 biolink:NamedThing postsurgical hypothyroidism phenio_relaxed_subqs.owl DOID:1458 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_244.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_27059002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0154159 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003271 biolink:NamedThing iodine hypothyroidism phenio_relaxed_subqs.owl DOID:5083 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_244.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_190279008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0154190 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002239 biolink:NamedThing post-surgical hypoinsulinemia phenio_relaxed_subqs.owl DOID:2181 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_251.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_190437000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0154191 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001962 biolink:NamedThing abnormality of glucagon secretion phenio_relaxed_subqs.owl DOID:14427 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_251.4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_11178005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0154206 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001473 biolink:NamedThing medulloadrenal hyperfunction phenio_relaxed_subqs.owl DOID:12257 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_255.6 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111565003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0154209 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001946 biolink:NamedThing hyperestrogenism Abnormally high level of estrogen. phenio_relaxed_subqs.owl DOID:14336 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E28.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10WHO_E28.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_256.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_37295009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0154246 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004739 biolink:NamedThing urea cycle disorder A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body. phenio_relaxed_subqs.owl DOID:9267 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007837 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_270.6 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D056806 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008814 biolink:NamedThing hyperargininemia Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment. phenio_relaxed_subqs.owl MONDO:0008815 biolink:NamedThing argininosuccinic aciduria Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction. phenio_relaxed_subqs.owl MONDO:0008861 biolink:NamedThing 3-methylcrotonyl-CoA carboxylase 1 deficiency Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene. phenio_relaxed_subqs.owl MONDO:0009376 biolink:NamedThing carbamoyl phosphate synthetase I deficiency disease Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia. phenio_relaxed_subqs.owl MONDO:0009377 biolink:NamedThing hyperammonemia due to N-acetylglutamate synthase deficiency N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia. phenio_relaxed_subqs.owl MONDO:0010703 biolink:NamedThing ornithine carbamoyltransferase deficiency Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications. phenio_relaxed_subqs.owl MONDO:0011717 biolink:NamedThing hyperinsulinism-hyperammonemia syndrome Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur. phenio_relaxed_subqs.owl MONDO:0014332 biolink:NamedThing hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency phenio_relaxed_subqs.owl MONDO:0015991 biolink:NamedThing citrullinemia Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency). phenio_relaxed_subqs.owl NCIT:C84785 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_36444000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79167 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0154251 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3146 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_272.9 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000193 biolink:NamedThing cortisone reductase deficiency A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility. phenio_relaxed_subqs.owl MONDO:0001822 biolink:NamedThing hypolipoproteinemia Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins). phenio_relaxed_subqs.owl MONDO:0005523 biolink:NamedThing steroid inherited metabolic disorder Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero. phenio_relaxed_subqs.owl MONDO:0008751 biolink:NamedThing corticosterone methyloxidase type 1 deficiency phenio_relaxed_subqs.owl MONDO:0009923 biolink:NamedThing 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis. phenio_relaxed_subqs.owl MONDO:0010810 biolink:NamedThing vitamin D hydroxylation-deficient rickets, type 1B An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets. phenio_relaxed_subqs.owl MONDO:0012172 biolink:NamedThing mitochondrial trifunctional protein deficiency Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.. phenio_relaxed_subqs.owl MONDO:0014421 biolink:NamedThing glucocorticoid resistance phenio_relaxed_subqs.owl MONDO:0017709 biolink:NamedThing disorder of lipid absorption and transport phenio_relaxed_subqs.owl MONDO:0017748 biolink:NamedThing inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation phenio_relaxed_subqs.owl MONDO:0017986 biolink:NamedThing disorder of plasmalogens biosynthesis phenio_relaxed_subqs.owl MONDO:0018117 biolink:NamedThing disorder of phospholipids, sphingolipids and fatty acids biosynthesis phenio_relaxed_subqs.owl MONDO:0029140 biolink:NamedThing glycosylphosphatidylinositol biosynthesis defect 18 phenio_relaxed_subqs.owl MONDO:0030037 biolink:NamedThing neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures phenio_relaxed_subqs.owl MONDO:0040500 biolink:NamedThing glycosylphosphatidylinositol biosynthesis defect 16 phenio_relaxed_subqs.owl MONDO:0060627 biolink:NamedThing glycosylphosphatidylinositol biosynthesis defect 15 phenio_relaxed_subqs.owl MONDO:0060724 biolink:NamedThing glycosylphosphatidylinositol biosynthesis defect 17 phenio_relaxed_subqs.owl MONDO:0100062 biolink:NamedThing developmental and epileptic encephalopathy A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity. phenio_relaxed_subqs.owl NCIT:C97092 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_267431006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0154254 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002272 biolink:NamedThing polyclonal hypergammaglobulinemia A laboratory test result indicating abnormally high proliferation of gamma globulins in the blood originating from multiple cell lines. phenio_relaxed_subqs.owl DOID:2344 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_D89.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_273.0 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35885 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_190808009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0154548 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024316 biolink:NamedThing physiological malfunction arising from mental factor A dysfunction in biological function that is due to a psychological process. phenio_relaxed_subqs.owl NCIT:C35186 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0154639 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11574 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_G00.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_320.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_4510004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0154648 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001424 biolink:NamedThing sarcoid meningitis Meningitis that arises from sarcoidosis. phenio_relaxed_subqs.owl DOID:12055 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_D86.81 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_321.4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_192673008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0154682 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018155 biolink:NamedThing lateral sclerosis Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production. phenio_relaxed_subqs.owl DOID:230 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010684 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_335.24 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011663 biolink:NamedThing juvenile primary lateral sclerosis Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production. phenio_relaxed_subqs.owl MONDO:0012708 biolink:NamedThing primary lateral sclerosis, adult, 1 phenio_relaxed_subqs.owl NCIT:C129933 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_81211007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:35689 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0154697 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016215 biolink:NamedThing spastic quadriplegic cerebral palsy A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities. phenio_relaxed_subqs.owl DOID:10970 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010447 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013033 biolink:NamedThing cerebral palsy, spastic quadriplegic, 2 Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene. phenio_relaxed_subqs.owl MONDO:0014862 biolink:NamedThing cerebral palsy, spastic quadriplegic, 3 Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene. phenio_relaxed_subqs.owl MONDO:0033613 biolink:NamedThing neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities phenio_relaxed_subqs.owl NCIT:C116904 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_603513 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_612900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_192965001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:210141 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0154830 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13207 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_362.02 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84457 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_59276001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0154832 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010269 biolink:NamedThing Coats disease Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children. phenio_relaxed_subqs.owl DOID:7765 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006121 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D058456 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300216 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_360455002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:190 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0154898 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9820 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_392049002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0154911 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017210 biolink:NamedThing infectious anterior uveitis An infectious disease involving a pathogenic inflammatory response in the anterior uvea. phenio_relaxed_subqs.owl DOID:9389 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001036 biolink:NamedThing hypopyon An accumulation of pus in the anterior chamber of the eye. phenio_relaxed_subqs.owl OBO:SCTID_193487008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:279922 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155088 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9857 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001694 biolink:NamedThing diffuse interstitial keratitis phenio_relaxed_subqs.owl UMLS:C0155089 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13353 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_370.52 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_17157001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155091 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11543 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_370.55 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C26969 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_64366002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155144 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11190 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008446 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_372.04 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35196 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_72115001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155211 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10122 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_374.52 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562400 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:145100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_41115008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000711 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155257 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11231 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_376.02 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_65974003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155339 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014624 biolink:NamedThing Brown syndrome Brown syndrome is a rare eye disorder characterized by defects in eye movements caused by abnormalities of the superior oblique tendon sheath of the superior oblique muscle. phenio_relaxed_subqs.owl DOID:10235 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005963 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_378.61 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616407 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_35929003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155388 biolink:NamedThing phenio_relaxed_subqs.owl DOID:379 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_H60-H62 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_744.47 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004795 biolink:NamedThing otitis externa Inflammation of the anatomical structures of the outer ear and ear canal secondary to an infectious process. Bacterial etiology is most common, but fungal infection is also possible. Symptoms include erythema, edema, and pain. phenio_relaxed_subqs.owl MONDO:0006532 biolink:NamedThing cholesteatoma of external ear A cholesteatoma (disease) that involves the external ear. phenio_relaxed_subqs.owl MONDO:0021235 biolink:NamedThing external ear neoplasm A neoplasm (disease) that involves the external ear. phenio_relaxed_subqs.owl NCIT:C26972 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_49130001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155389 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002246 biolink:NamedThing perichondritis of auricle An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it. phenio_relaxed_subqs.owl DOID:222 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_380.00 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001917 biolink:NamedThing chronic perichondritis of pinna Chronic form of perichondritis of auricle. phenio_relaxed_subqs.owl OBO:SCTID_34129005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155390 biolink:NamedThing phenio_relaxed_subqs.owl DOID:221 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_380.01 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_45855004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155391 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14243 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_380.02 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_45431004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155392 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001053 biolink:NamedThing acute infection of pinna An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species. phenio_relaxed_subqs.owl DOID:10520 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_380.11 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_56663002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155395 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001050 biolink:NamedThing malignant otitis externa An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes. phenio_relaxed_subqs.owl DOID:10516 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_H60.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_380.14 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0041095 biolink:NamedThing malignant otitis externa caused by Pseudomonas aeruginosa An malignant otitis externa caused by infection with Pseudomonas aeruginosa. phenio_relaxed_subqs.owl OBO:SCTID_94146005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155396 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10519 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_380.15 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111898002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155398 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9462 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_H60.4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_380.21 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_35247001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000677 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155411 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:128300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155415 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001312 biolink:NamedThing acute serous otitis media A acute transudative otitis media with thin, watery and sterile effusion. phenio_relaxed_subqs.owl DOID:11557 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_H65.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_381.01 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001313 biolink:NamedThing acute allergic serous otitis media A acute serous otitis media caused by an allergen. phenio_relaxed_subqs.owl OBO:SCTID_194240006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155418 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11558 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_381.04 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_59275002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155419 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004864 biolink:NamedThing acute allergic mucoid otitis media A blue drum syndrome caused by an allergen. phenio_relaxed_subqs.owl DOID:9735 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_381.05 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_8326008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155420 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002757 biolink:NamedThing acute allergic sanguinous otitis media A acute sanguinous otitis media caused by an allergen. phenio_relaxed_subqs.owl DOID:3728 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_381.06 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_17866004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155421 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001213 biolink:NamedThing serous glue ear Chronic form of serous otitis media. phenio_relaxed_subqs.owl DOID:11181 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_381.10 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_81564005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155440 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14435 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_H66.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_382.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_87665008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155441 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001921 biolink:NamedThing chronic atticoantral disease A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection. phenio_relaxed_subqs.owl UMLS:C0565831 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14248 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_267759006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155460 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001802 biolink:NamedThing acute tympanitis phenio_relaxed_subqs.owl DOID:13790 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_384.00 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_297009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155461 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13791 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_384.01 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_33528003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155470 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5781 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_384.81 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_38645004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155471 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12546 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_384.82 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_72052003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155489 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006531 biolink:NamedThing cholesteatoma of attic A cholesteatoma in the attic phenio_relaxed_subqs.owl DOID:10963 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_385.31 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_38708003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000676 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155490 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006533 biolink:NamedThing cholesteatoma of middle ear A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear. phenio_relaxed_subqs.owl DOID:10964 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_H71 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_385.33 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018424 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3654 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_194339007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000678 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155492 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10852 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_385.82 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_28371001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155496 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13490 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_386.01 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_194348002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155497 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13492 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_386.02 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_194349005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155498 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13491 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_386.03 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_194350005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155501 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9847 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_386.10 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006744 biolink:NamedThing endolymphatic hydrops An accumulation of endolymph in the inner ear (labyrinth) leading to buildup of pressure and distortion of intralabyrinthine structures, such as cochlea and semicircular canals. It is characterized by sensorineural hearing loss; tinnitus; and sometimes vertigo. phenio_relaxed_subqs.owl MONDO:0013138 biolink:NamedThing vertigo, benign recurrent, 2 phenio_relaxed_subqs.owl MONDO:8000018 biolink:NamedThing benign paroxysmal positional vertigo Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed. phenio_relaxed_subqs.owl MONDO:8000019 biolink:NamedThing vertigo, benign recurrent, 1 phenio_relaxed_subqs.owl OBO:SCTID_50438001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155502 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13941 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005915 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_386.11 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:193007 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111541001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155504 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1467 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_386.31 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_41674001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155505 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13867 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_386.32 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_61794006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155506 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13534 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_386.33 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_24817009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155507 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14081 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_386.34 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_3344003 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_9062008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0006951 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155508 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12357 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_386.35 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_409711008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155515 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002107 biolink:NamedThing unilateral hyperactive labyrinth phenio_relaxed_subqs.owl DOID:1777 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155516 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001897 biolink:NamedThing bilateral hyperactive labyrinth phenio_relaxed_subqs.owl DOID:14165 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_194373002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155517 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004801 biolink:NamedThing unilateral hypoactive labyrinth phenio_relaxed_subqs.owl DOID:9496 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155518 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003567 biolink:NamedThing bilateral hypoactive labyrinth phenio_relaxed_subqs.owl DOID:565 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_194375009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155519 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002106 biolink:NamedThing labyrinthine unilateral reactive loss phenio_relaxed_subqs.owl DOID:1776 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155520 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001959 biolink:NamedThing labyrinthine bilateral reactive loss phenio_relaxed_subqs.owl DOID:14413 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_194377001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155579 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5748 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_397.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_18687009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155593 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000959 biolink:NamedThing malignant hypertensive renal disease phenio_relaxed_subqs.owl DOID:10177 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_403.00 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001784 biolink:NamedThing malignant renovascular hypertension phenio_relaxed_subqs.owl OBO:SCTID_65443008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155596 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001304 biolink:NamedThing benign hypertensive renal disease phenio_relaxed_subqs.owl DOID:11520 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_403.10 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_193003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155700 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001261 biolink:NamedThing Mobitz type II atrioventricular block A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a relatively constant PR interval prior to the block of an atrial impulse. (CDISC) phenio_relaxed_subqs.owl DOID:11312 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_426.12 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C62018 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_28189009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155804 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2050 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_J01.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_461.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_68272006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155805 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14225 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_J01.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_461.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_91038008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155806 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9506 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_461.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_67832005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155807 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13046 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_J01.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_461.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_77919000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155862 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0040084 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_J13 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_482.30 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011018 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_233607000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007499 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155866 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050160 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_022.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C571912 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_11389007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:247257 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155890 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8484 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_86638007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0155930 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12661 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000701 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_521.6 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020254 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:157950 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_14901003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001215 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1077 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0156042 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0156044 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0156045 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0156047 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0156048 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0156050 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10927 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_K28.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_4269005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0156214 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9714 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_K82.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_197416005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0156265 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001270 biolink:NamedThing stone in bladder diverticulum phenio_relaxed_subqs.owl DOID:11354 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_594.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_18109005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0156312 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11994 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_N50.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_608.3 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C123259 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_17585008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0156318 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006118 biolink:NamedThing breast fibrosis Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma. phenio_relaxed_subqs.owl DOID:10353 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_N60.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_610.3 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3660 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_29070004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000145 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0156327 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10971 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_614.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_266581008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0156328 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12265 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_614.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_198142001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0156344 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11432 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_N80.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_617.1 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27628 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_266589005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000418 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0158262 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0044343 biolink:NamedThing cervical disc degenerative disorder Any degenerative disorder affecting one or more vertebral discs of the cervical spine. phenio_relaxed_subqs.owl UMLS:C0410606 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27156 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_69195002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0158266 biolink:NamedThing phenio_relaxed_subqs.owl DOID:90 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_722.6 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D055959 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0044339 biolink:NamedThing lumbar disc degenerative disorder Any degenerative disorder affecting one or more vertebral discs of the lumbar spine. phenio_relaxed_subqs.owl MONDO:0044342 biolink:NamedThing thoracic disc degenerative disorder Any degenerative disorder affecting one or more vertebral discs of the thoracic spine. phenio_relaxed_subqs.owl NCIT:C26983 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_77547008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0158304 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14192 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_726.12 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_41137001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0158315 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001747 biolink:NamedThing tibial collateral ligament bursitis phenio_relaxed_subqs.owl DOID:13566 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_726.62 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_44245003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0158316 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004764 biolink:NamedThing fibular collateral ligament bursitis phenio_relaxed_subqs.owl DOID:9358 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_726.63 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_77323000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0158317 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10471 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_M76.5 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_726.64 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_37785001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0158321 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10810 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_726.72 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_50127006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0158328 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008484 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D052582 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:190410 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_42786005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0158617 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019809 biolink:NamedThing congenital aortic valve insufficiency Dysfunction of the aortic valve characterized by incomplete valve closure that is present at birth. phenio_relaxed_subqs.owl OBO:ICD9_746.4 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C103936 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_28656008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:95449 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0158683 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000447 biolink:NamedThing autosomal dominant polycystic liver disease An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver. phenio_relaxed_subqs.owl DOID:0050770 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009457 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_Q44.6 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_751.62 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008265 biolink:NamedThing polycystic liver disease 1 A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver. phenio_relaxed_subqs.owl MONDO:0014860 biolink:NamedThing polycystic liver disease 2 Any polycystic kidney disease in which the cause of the disease is a mutation in the SEC63 gene. phenio_relaxed_subqs.owl MONDO:0044327 biolink:NamedThing polycystic liver disease 4 with or without kidney cysts An autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium, caused by heterozygous mutation in the LRP5 gene. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure. phenio_relaxed_subqs.owl MONDO:0054743 biolink:NamedThing polycystic liver disease 3 with or without kidney cysts Any polycystic kidney disease in which the cause of the disease is a mutation in the ALG8 gene, that presents with or without kidney cysts. phenio_relaxed_subqs.owl MONDO:0550003 biolink:NamedThing SEC61B-related polycystic liver disease Any autosomal dominant polycystic liver disease in which the cause of the disease is a mutation in the SEC61B gene. phenio_relaxed_subqs.owl OBO:MedDRA_10083939 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C82833 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_174050 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_72925005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2924 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0158981 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11717 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_P70.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_775.1 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020525 biolink:NamedThing transient neonatal diabetes mellitus Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients. phenio_relaxed_subqs.owl NCIT:C99248 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_49817004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:224 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0158983 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12573 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_775.3 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C114906 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_13795004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0162316 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001356 biolink:NamedThing iron deficiency anemia Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss. phenio_relaxed_subqs.owl DOID:11758 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_280.9 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018798 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84484 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_87522002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0162375 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006770 biolink:NamedThing giant cell reparative granuloma A rare tumor-like lesion of the hands and feet characterized by the presence of hemorrhagic fibrous tissue, hemosiderin deposition, osteoclast-like giant cells which are irregularly distributed, and reactive bone formation. Pain and swelling are the most frequent symptoms. It may recur following curettage, but is usually cured after a second procedure. phenio_relaxed_subqs.owl DOID:1866 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_526.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006101 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C121893 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_15350006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000950 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0162423 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3241961 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11153 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_44279002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000735 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0162510 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010913 biolink:NamedThing Caroli disease Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts. phenio_relaxed_subqs.owl UMLS:C1833541 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050876 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006002 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016767 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84619 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600643 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717232005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001286 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:53035 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0162531 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13269 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006619 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D046349 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84759 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:121300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_7425008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79273 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0162532 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4346 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007848 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D046350 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85219 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:176200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_58275005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79473 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0162533 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002520 biolink:NamedThing hepatic porphyria A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues. phenio_relaxed_subqs.owl UMLS:CN552491 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3133 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017094 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019800 biolink:NamedThing chronic hepatic porphyria Chronic hepatic porphyrias represent a sub-group of porphyrias. They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare). phenio_relaxed_subqs.owl OBO:SCTID_55056006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:95157 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0162538 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4049006 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060025 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11701 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017098 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007644 biolink:NamedThing IgAD1 Decreased or absent levels of serum immunoglobulin A, with normal serum levels of immunoglobulin G and immunoglobulin M in a patient who is older than 4 years of age and in whom all other causes of hypogammaglobulinemia have been excluded. Affected individuals may be asymptomatic or have frequent infections, allergic reactions, or autoimmune disorders. phenio_relaxed_subqs.owl MONDO:0010019 biolink:NamedThing secretory component deficiency phenio_relaxed_subqs.owl MONDO:0012291 biolink:NamedThing immunoglobulin A deficiency 2 Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene. phenio_relaxed_subqs.owl NCIT:C26964 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_29260007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001929 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:69127 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0162539 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010371 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001901 biolink:NamedThing selective IgG subclass deficiency A classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the four immunoglobulin class G (IgG) subclasses. Selective IgG1 deficiency is rare and primarily decreases the immune response to bacterial protein antigens. Selective IgG2 deficiency is the most common subclass deficiency among children and primarily leads to an inadequate response to bacterial polysaccharide antigens. Selective IgG3 deficiency is the most common subclass deficiency among adults and also primarily lowers the response to bacterial proteins. Selective IgG4 deficiency may be a clinically insignificant developmental variant, as IgG4 is a subclass that is virtually undetectable until the end of the first decade of life. Low levels of any IgG subclass will reduce the immune system's effectiveness and thus the clinical presentation of these diseases is usually recurrent infection, particularly by encapsulated bacteria. phenio_relaxed_subqs.owl NCIT:C27142 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_12631000119106 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0162565 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3890 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005732 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017118 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84536 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:176000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234422006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79276 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0162566 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015104 biolink:NamedThing porphyria cutanea tarda Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria. It is characterized by bullous photodermatitis. phenio_relaxed_subqs.owl DOID:3132 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007433 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017119 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008295 biolink:NamedThing sporadic porphyria cutanea tarda An instance of porphyria cutanea tarda that is acquired during the lifetime of the individual. phenio_relaxed_subqs.owl MONDO:0019799 biolink:NamedThing hepatoerythropoietic porphyria Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria characterized by bullous photodermatitis. phenio_relaxed_subqs.owl NCIT:C27725 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_PCT biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_61860000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101330 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0162569 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5230 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006169 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017121 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84754 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111386004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:95159 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0162576 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015200 biolink:NamedThing anisakiasis Infection with roundworms of the genus anisakis. Human infection results from the consumption of fish harboring roundworm larvae. The worms may cause acute nausea; vomiting; or penetrate into the wall of the digestive tract where they give rise to eosinophilic granuloma in the stomach; intestines; or the omentum. phenio_relaxed_subqs.owl DOID:7033 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000693 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B81.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017129 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128393 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_442652006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007146 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1070 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0162626 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000297 biolink:NamedThing baylisascariasis An infection that is caused by the raccoon nematode Baylisascaris procyonis, which is transmitted by the ingestion of embryonated eggs in contaminated soil; symptoms depend on larval migration sites (visceral organs, eye, or brain) provoking severe inflammatory responses. phenio_relaxed_subqs.owl UMLS:C0277150 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050259 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128397 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0162631 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008203 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017196 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000299 biolink:NamedThing thelaziasis A disease caused by infection with Thelazia. phenio_relaxed_subqs.owl MONDO:0005656 biolink:NamedThing Ascaridida infectious disease Infections with nematodes of the order ascaridida. phenio_relaxed_subqs.owl EFO:0007468 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0162635 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007113 biolink:NamedThing Angelman syndrome Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features. phenio_relaxed_subqs.owl DOID:1932 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005810 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_Q93.51 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C531619 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017204 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018461 biolink:NamedThing Angelman syndrome due to a point mutation phenio_relaxed_subqs.owl MONDO:0018462 biolink:NamedThing Angelman syndrome due to imprinting defect in 15q11-q13 phenio_relaxed_subqs.owl MONDO:0020302 biolink:NamedThing Angelman syndrome due to maternal 15q11q13 deletion phenio_relaxed_subqs.owl MONDO:0020303 biolink:NamedThing Angelman syndrome due to paternal uniparental disomy of chromosome 15 phenio_relaxed_subqs.owl NCIT:C75462 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:105830 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_76880004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:72 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0162666 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004675 biolink:NamedThing mitochondrial encephalomyopathy A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5) phenio_relaxed_subqs.owl DOID:890 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017237 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010789 biolink:NamedThing MELAS syndrome MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations. phenio_relaxed_subqs.owl OBO:SCTID_447292006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0162670 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009637 biolink:NamedThing inborn mitochondrial myopathy Myopathy caused by mitochondrial abnormalities. phenio_relaxed_subqs.owl DOID:699 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0011956 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017240 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000863 biolink:NamedThing myopathy, lactic acidosis, and sideroblastic anemia Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy. phenio_relaxed_subqs.owl MONDO:0005181 biolink:NamedThing progressive external ophthalmoplegia A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422) phenio_relaxed_subqs.owl MONDO:0009282 biolink:NamedThing multiple acyl-CoA dehydrogenase deficiency A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure. phenio_relaxed_subqs.owl MONDO:0009638 biolink:NamedThing mitochondrial myopathy with a defect in mitochondrial-protein transport phenio_relaxed_subqs.owl MONDO:0010543 biolink:NamedThing Barth syndrome Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria. phenio_relaxed_subqs.owl MONDO:0010780 biolink:NamedThing mitochondrial myopathy with reversible cytochrome C oxidase deficiency phenio_relaxed_subqs.owl MONDO:0010792 biolink:NamedThing lethal infantile mitochondrial myopathy Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures. phenio_relaxed_subqs.owl MONDO:0011835 biolink:NamedThing sensory ataxic neuropathy, dysarthria, and ophthalmoparesis A syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia. phenio_relaxed_subqs.owl MONDO:0013028 biolink:NamedThing adenosine monophosphate deaminase deficiency Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue. phenio_relaxed_subqs.owl MONDO:0013116 biolink:NamedThing congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome phenio_relaxed_subqs.owl MONDO:0014532 biolink:NamedThing autosomal dominant mitochondrial myopathy with exercise intolerance phenio_relaxed_subqs.owl MONDO:0015487 biolink:NamedThing fatal infantile encephalocardiomyopathy Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy. phenio_relaxed_subqs.owl MONDO:0016825 biolink:NamedThing mitochondrial myopathy-lactic acidosis-deafness syndrome Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973. phenio_relaxed_subqs.owl MONDO:0017575 biolink:NamedThing mitochondrial neurogastrointestinal encephalomyopathy A syndrome characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. phenio_relaxed_subqs.owl MONDO:0018002 biolink:NamedThing adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases. phenio_relaxed_subqs.owl MONDO:0018343 biolink:NamedThing periodic paralysis with later-onset distal motor neuropathy phenio_relaxed_subqs.owl MONDO:0019016 biolink:NamedThing maternally-inherited progressive external ophthalmoplegia phenio_relaxed_subqs.owl MONDO:0020714 biolink:NamedThing mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy phenio_relaxed_subqs.owl MONDO:0031230 biolink:NamedThing mitochondrial complex II deficiency, nuclear type phenio_relaxed_subqs.owl MONDO:0044714 biolink:NamedThing mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome phenio_relaxed_subqs.owl MONDO:0100138 biolink:NamedThing X-linked recessive mitochondrial myopathy A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features. phenio_relaxed_subqs.owl MONDO:0100224 biolink:NamedThing mitochondrial complex I deficiency, nuclear type 1 phenio_relaxed_subqs.owl NCIT:C101328 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:206966 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0162671 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3687 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007009 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E88.41 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017241 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0800032 biolink:NamedThing MELAS syndrome caused by mutation in MTTL1 Any MELAS syndromein which the cause of the disease is a mutation in the MTTL1 gene. phenio_relaxed_subqs.owl MONDO:0800033 biolink:NamedThing MELAS syndrome caused by mutation in MTTQ Any MELAS syndromein which the cause of the disease is a mutation in the MTTQ gene. phenio_relaxed_subqs.owl MONDO:0800034 biolink:NamedThing MELAS syndrome caused by mutation in MTTH Any MELAS syndromein which the cause of the disease is a mutation in the MTTH gene. phenio_relaxed_subqs.owl MONDO:0800035 biolink:NamedThing MELAS syndrome caused by mutation in MTTK Any MELAS syndromein which the cause of the disease is a mutation in the MTTK gene. phenio_relaxed_subqs.owl MONDO:0800036 biolink:NamedThing MELAS syndrome caused by mutation in MTTC Any MELAS syndromein which the cause of the disease is a mutation in the MTTC gene. phenio_relaxed_subqs.owl MONDO:0800037 biolink:NamedThing MELAS syndrome caused by mutation in MTTS1 Any MELAS syndromein which the cause of the disease is a mutation in the MTTS1 gene. phenio_relaxed_subqs.owl MONDO:0800038 biolink:NamedThing MELAS syndrome caused by mutation in MTND1 Any MELAS syndromein which the cause of the disease is a mutation in the MTND1 gene. phenio_relaxed_subqs.owl MONDO:0800039 biolink:NamedThing MELAS syndrome caused by mutation in MTND5 Any MELAS syndromein which the cause of the disease is a mutation in the MTND5 gene. phenio_relaxed_subqs.owl MONDO:0800040 biolink:NamedThing MELAS syndrome caused by mutation in MTND6 Any MELAS syndromein which the cause of the disease is a mutation in the MTND6 gene. phenio_relaxed_subqs.owl MONDO:0800041 biolink:NamedThing MELAS syndrome caused by mutation in MTTS2 Any MELAS syndromein which the cause of the disease is a mutation in the MTTS2 gene. phenio_relaxed_subqs.owl NCIT:C84885 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:540000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_39925003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:550 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0162672 biolink:NamedThing phenio_relaxed_subqs.owl DOID:310 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007144 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E88.42 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017243 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84889 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:545000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_68448003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:551 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0162678 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8712 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010420 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_237.70 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017253 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008075 biolink:NamedThing neurofibromatosis type 3 Neurofibromatosis (NF) type 3 (NF3), also known as schwannomatosis, is the least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium. phenio_relaxed_subqs.owl MONDO:0008081 biolink:NamedThing neurofibromatosis, type IV, of Riccardi phenio_relaxed_subqs.owl MONDO:0011035 biolink:NamedThing neurofibromatosis-Noonan syndrome Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafC)-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS). phenio_relaxed_subqs.owl NCIT:C6727 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_19133005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0162739 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13133 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008528 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017359 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84750 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007297 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:244242 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0162809 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3614 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010771 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017436 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007844 biolink:NamedThing hypogonadotropic hypogonadism 2 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene. phenio_relaxed_subqs.owl MONDO:0009482 biolink:NamedThing hypogonadotropic hypogonadism 3 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROKR2 gene. phenio_relaxed_subqs.owl MONDO:0010635 biolink:NamedThing hypogonadotropic hypogonadism 1 with or without anosmia The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3. phenio_relaxed_subqs.owl MONDO:0012528 biolink:NamedThing hypogonadotropic hypogonadism 4 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROK2 gene. phenio_relaxed_subqs.owl MONDO:0012880 biolink:NamedThing hypogonadotropic hypogonadism 5 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene. phenio_relaxed_subqs.owl MONDO:0012988 biolink:NamedThing hypogonadotropic hypogonadism 6 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene. phenio_relaxed_subqs.owl MONDO:0013910 biolink:NamedThing hypogonadotropic hypogonadism 8 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1R gene. phenio_relaxed_subqs.owl MONDO:0013911 biolink:NamedThing hypogonadotropic hypogonadism 9 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the NSMF gene. phenio_relaxed_subqs.owl MONDO:0013913 biolink:NamedThing hypogonadotropic hypogonadism 11 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TACR3 gene. phenio_relaxed_subqs.owl MONDO:0013926 biolink:NamedThing hypogonadotropic hypogonadism 14 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the WDR11 gene. phenio_relaxed_subqs.owl MONDO:0013946 biolink:NamedThing hypogonadotropic hypogonadism 15 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene. phenio_relaxed_subqs.owl MONDO:0013961 biolink:NamedThing hypogonadotropic hypogonadism 16 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SEMA3A gene. phenio_relaxed_subqs.owl MONDO:0014102 biolink:NamedThing hypogonadotropic hypogonadism 17 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SPRY4 gene. phenio_relaxed_subqs.owl MONDO:0014103 biolink:NamedThing hypogonadotropic hypogonadism 18 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the IL17RD gene. phenio_relaxed_subqs.owl MONDO:0014105 biolink:NamedThing hypogonadotropic hypogonadism 19 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the DUSP6 gene. phenio_relaxed_subqs.owl MONDO:0014106 biolink:NamedThing hypogonadotropic hypogonadism 20 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF17 gene. phenio_relaxed_subqs.owl MONDO:0014107 biolink:NamedThing hypogonadotropic hypogonadism 21 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FLRT3 gene. phenio_relaxed_subqs.owl MONDO:0014461 biolink:NamedThing hypogonadotropic hypogonadism 22 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene. phenio_relaxed_subqs.owl NCIT:C75479 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_93559003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:478 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0162855 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002523 biolink:NamedThing cutaneous mucinosis The mucinoses are a diverse group of disorders which have in common the deposition of basophilic, finely granular and stringy material (mucin) in the connective tissues of the dermis (dermal mucinoses), in the pilosebaceous follicles (follicular mucinoses), or in the epidermis and tumors derived therefrom (epithelial mucinoses). phenio_relaxed_subqs.owl DOID:3141 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017520 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018432 biolink:NamedThing lichen myxedematosus phenio_relaxed_subqs.owl MONDO:0021653 biolink:NamedThing cutaneous focal mucinosis phenio_relaxed_subqs.owl MONDO:0021654 biolink:NamedThing diffuse cutaneous mucinosis phenio_relaxed_subqs.owl MONDO:0021655 biolink:NamedThing secondary catabolic mucinosis of skin phenio_relaxed_subqs.owl OBO:SCTID_402721001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0175683 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9273 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E72.23 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020159 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008988 biolink:NamedThing citrullinemia type I Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I). phenio_relaxed_subqs.owl MONDO:0016602 biolink:NamedThing citrin deficiency Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency). phenio_relaxed_subqs.owl NCIT:C84639 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_124711003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:187 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0175691 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14796 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006290 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535718 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C125591 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:223370 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_2593002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:235 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0175692 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850081 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14694 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000080 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535880 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564907 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:243800 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:260450 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_75979009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0001063 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2315 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0175693 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008394 biolink:NamedThing Silver-Russell syndrome Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry. phenio_relaxed_subqs.owl DOID:14681 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004870 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D056730 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010727 biolink:NamedThing Russell-silver syndrome, X-linked phenio_relaxed_subqs.owl MONDO:0014663 biolink:NamedThing Silver-Russell syndrome 3 phenio_relaxed_subqs.owl MONDO:0016479 biolink:NamedThing silver-Russell syndrome due to 7p11.2p13 microduplication phenio_relaxed_subqs.owl MONDO:0016480 biolink:NamedThing silver-Russell syndrome due to an imprinting defect of 11p15 phenio_relaxed_subqs.owl MONDO:0016481 biolink:NamedThing silver-Russell syndrome due to 11p15 microduplication phenio_relaxed_subqs.owl MONDO:0016482 biolink:NamedThing silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 phenio_relaxed_subqs.owl MONDO:0019913 biolink:NamedThing silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders). phenio_relaxed_subqs.owl MONDO:0020795 biolink:NamedThing Silver-Russell syndrome 5 phenio_relaxed_subqs.owl MONDO:0020796 biolink:NamedThing Silver-Russell syndrome 1 phenio_relaxed_subqs.owl MONDO:0030116 biolink:NamedThing silver-russell syndrome 2 phenio_relaxed_subqs.owl MONDO:0030118 biolink:NamedThing silver-russell syndrome 4 phenio_relaxed_subqs.owl NCIT:C85068 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_180860 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_15069006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:813 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0175694 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010035 biolink:NamedThing Smith-Lemli-Opitz syndrome Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems. phenio_relaxed_subqs.owl DOID:14692 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005683 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E78.72 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D019082 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85071 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:270400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_43929004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:818 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0175695 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019349 biolink:NamedThing Sotos syndrome Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability. phenio_relaxed_subqs.owl UMLS:CN239475 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14748 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010091 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D058495 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007299 biolink:NamedThing Sotos syndrome 1 Any Sotos syndrome in which the cause of the disease is a mutation in the NSD1 gene. phenio_relaxed_subqs.owl MONDO:0013885 biolink:NamedThing Malan overgrowth syndrome Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies. phenio_relaxed_subqs.owl MONDO:0014951 biolink:NamedThing Sotos syndrome 3 Any Sotos syndrome in which the cause of the disease is a mutation in the APC2 gene. phenio_relaxed_subqs.owl NCIT:C75019 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_117550 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:821 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0175697 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060239 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008414 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536528 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007333 biolink:NamedThing van der Woude syndrome 1 Any van der Woude syndrome in which the cause of the disease is a mutation in the IRF6 gene. phenio_relaxed_subqs.owl MONDO:0011712 biolink:NamedThing van der Woude syndrome 2 Any van der Woude syndrome in which the cause of the disease is a mutation in the GRHL3 gene. phenio_relaxed_subqs.owl NCIT:C74986 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_79261008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:888 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0175699 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007042 biolink:NamedThing Saethre-Chotzen syndrome Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations. phenio_relaxed_subqs.owl DOID:14768 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007598 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C75034 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:101400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_83015004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007029 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:794 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0175700 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008518 biolink:NamedThing calcaneonavicular coalition A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet. phenio_relaxed_subqs.owl DOID:14762 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009863 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538156 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:186400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_62628008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0175702 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008678 biolink:NamedThing Williams syndrome Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity) phenio_relaxed_subqs.owl DOID:1928 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007891 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018980 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85232 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:194050 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_63247009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:904 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0175703 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14699 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005116 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536940 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C99038 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:274000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_85589009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3320 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0175704 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007893 biolink:NamedThing Noonan syndrome with multiple lentigines Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features. phenio_relaxed_subqs.owl UMLS:CN074218 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14291 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D044542 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012691 biolink:NamedThing LEOPARD syndrome 2 Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene. phenio_relaxed_subqs.owl MONDO:0013380 biolink:NamedThing LEOPARD syndrome 3 Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the BRAF gene. phenio_relaxed_subqs.owl MONDO:0100082 biolink:NamedThing LEOPARD syndrome 1 Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24. phenio_relaxed_subqs.owl NCIT:C84820 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_151100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111306001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0175713 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8461 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005764 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D058540 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35256 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:304050 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_80651009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:50 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0175778 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007875 biolink:NamedThing Larsen syndrome Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate. phenio_relaxed_subqs.owl DOID:14764 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006860 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C580241 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:150250 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_63387002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:503 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0178426 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12594 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004462 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_Q60.6 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40435 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_41962002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0205647 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6204 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004460 biolink:NamedThing thyroid gland fetal adenoma A thyroid gland adenoma composed of microfollicular structures. phenio_relaxed_subqs.owl MONDO:0004483 biolink:NamedThing thyroid gland oncocytic adenoma A thyroid gland adenoma composed of large cells with abundant granular eosinophilic cytoplasm and large nuclei with prominent nucleoli. phenio_relaxed_subqs.owl MONDO:0004524 biolink:NamedThing thyroid gland atypical follicular adenoma A thyroid gland adenoma with increased cellularity and nuclear atypia. There is no capsular or vascular invasion. The clinical course is benign. phenio_relaxed_subqs.owl MONDO:0004558 biolink:NamedThing thyroid gland macrofollicular adenoma A thyroid gland adenoma composed of large size follicles. phenio_relaxed_subqs.owl NCIT:C3502 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_255034006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000499 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0205710 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080122 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1442 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005783 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35257 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:203700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_20415001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:726 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0205711 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3210 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004265 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020371 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008950 biolink:NamedThing cerebral sclerosis similar to Pelizaeus-Merzbacher disease phenio_relaxed_subqs.owl MONDO:0017221 biolink:NamedThing Pelizaeus-Merzbacher disease, connatal form The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD. phenio_relaxed_subqs.owl MONDO:0017222 biolink:NamedThing Pelizaeus-Merzbacher disease, classic form The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD. phenio_relaxed_subqs.owl MONDO:0017223 biolink:NamedThing Pelizaeus-Merzbacher disease, transitional form The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD. phenio_relaxed_subqs.owl MONDO:0017224 biolink:NamedThing Pelizaeus-Merzbacher disease in female carriers Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22). phenio_relaxed_subqs.owl MONDO:0017225 biolink:NamedThing null syndrome The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy. phenio_relaxed_subqs.owl NCIT:C75487 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:312080 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_64855000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:702 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0205721 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003428 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005188 biolink:NamedThing iatrogenic Kaposi's sarcoma A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment. phenio_relaxed_subqs.owl MONDO:0034976 biolink:NamedThing iatrogenic Creutzfeldt-Jakob disease phenio_relaxed_subqs.owl NCIT:C115164 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_19168005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001299 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0205788 biolink:NamedThing phenio_relaxed_subqs.owl DOID:474 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003897 biolink:NamedThing breast epithelioid hemangioma A hemangioma characterized by the presence of epithelioid endothelial cells, arising from the breast. phenio_relaxed_subqs.owl MONDO:0003945 biolink:NamedThing bone epithelioid hemangioma A locally aggressive hemangioma that arises from the bone. It is characterized by the presence of epithelioid endothelial cells. phenio_relaxed_subqs.owl NCIT:C4298 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0205789 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003088 biolink:NamedThing intramuscular hemangioma A hemangioma arising from skeletal muscle. phenio_relaxed_subqs.owl DOID:468 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3699 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0205822 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003943 biolink:NamedThing central nervous system hibernoma A rare benign slow growing adipose tumor, characterized by the presence of polygonal brown fat cells with abundant cytoplasm, that arises within the nervous system. phenio_relaxed_subqs.owl NCIT:C3702 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_404064001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0205823 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10192 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3703 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_404059000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206042 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010808 biolink:NamedThing fatal familial insomnia Fatal familial insomnia (FFI) is a very rare form of prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances. phenio_relaxed_subqs.owl DOID:0050433 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006429 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A81.83 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D034062 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84711 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600072 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_83157008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:466 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206067 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5362 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017573 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C97083 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:229045 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_6121001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007275 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206081 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11613 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017588 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237793004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206085 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060165 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003117 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017593 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84800 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:148840 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111488004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001354 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:33543 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206115 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008681 biolink:NamedThing WAGR syndrome WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor. phenio_relaxed_subqs.owl UMLS:C2931803 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14515 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001732 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005528 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017624 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012913 biolink:NamedThing Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene. phenio_relaxed_subqs.owl NCIT:C3718 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:194072 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715215007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:893 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206138 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060218 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012430 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017675 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C70646 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_31848007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90290 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206141 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011895 biolink:NamedThing idiopathic hypereosinophilic syndrome phenio_relaxed_subqs.owl OMIM:607685 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_423294001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3260 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206178 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080160 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009531 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017726 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C50521 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_22455005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001302 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206245 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007100 biolink:NamedThing familial amyloid neuropathy Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur. phenio_relaxed_subqs.owl UMLS:C2751492 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050638 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050761 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000656 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567782 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019441 biolink:NamedThing ATTRV122I amyloidosis Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein. phenio_relaxed_subqs.owl NCIT:C84554 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:105210 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_42295001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0004129 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:85447 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206246 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006611 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D028226 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005620 biolink:NamedThing cerebral amyloid angiopathy Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia. phenio_relaxed_subqs.owl MONDO:0007097 biolink:NamedThing Finnish type amyloidosis phenio_relaxed_subqs.owl MONDO:0007099 biolink:NamedThing familial visceral amyloidosis phenio_relaxed_subqs.owl MONDO:0007101 biolink:NamedThing familial primary localized cutaneous amyloidosis phenio_relaxed_subqs.owl MONDO:0017132 biolink:NamedThing hereditary ATTR amyloidosis phenio_relaxed_subqs.owl MONDO:0017810 biolink:NamedThing variant ABeta2M amyloidosis A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy. phenio_relaxed_subqs.owl MONDO:0018591 biolink:NamedThing ITM2B amyloidosis phenio_relaxed_subqs.owl NCIT:C84555 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_367601000119103 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:444116 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206307 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3613 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005984 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017825 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017830 biolink:NamedThing severe Canavan disease Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia. phenio_relaxed_subqs.owl MONDO:0017831 biolink:NamedThing mild Canavan disease Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development. phenio_relaxed_subqs.owl NCIT:C84611 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:271900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_80544005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:141 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206368 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13641 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_365.52 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017889 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129025 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:177650 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111514006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0004235 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:529819 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206526 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005861 biolink:NamedThing multidrug-resistant tuberculosis A type of drug-resistant tuberculosis that is resistant to both rifampicin and isoniazid, the two most powerful anti-TB drugs. phenio_relaxed_subqs.owl DOID:401 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018088 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128415 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_423092005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007381 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206586 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9848 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018159 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_27621000119100 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000918 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206604 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005652 biolink:NamedThing Arterivirus infectious disease Infections caused by viruses of the family arteriviridae. phenio_relaxed_subqs.owl OBO:MESH_D018174 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007152 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206607 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005986 biolink:NamedThing torovirus infectious disease Infections with viruses of the genus torovirus, family coronaviridae. phenio_relaxed_subqs.owl OBO:MESH_D018176 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007514 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206611 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005909 biolink:NamedThing pestivirus infectious disease Infections with viruses of the genus pestivirus, family flaviviridae. phenio_relaxed_subqs.owl OBO:MESH_D018182 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007432 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206614 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005857 biolink:NamedThing morbillivirus infectious disease Infections with viruses of the genus morbillivirus, family paramyxoviridae. Infections mainly cause acute disease in their hosts, although in some cases infection is persistent and leads to degenerative conditions. phenio_relaxed_subqs.owl OBO:MESH_D018185 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007377 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206617 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018188 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007194 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206632 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3616 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018206 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002710 biolink:NamedThing infiltrating angiolipoma An uncommon lipoma characterized by prominent vascularity that invades the surrounding deep tissue. phenio_relaxed_subqs.owl MONDO:0002712 biolink:NamedThing epidural spinal canal angiolipoma An uncommon lipoma characterized by prominent vascularity that arises in the epidural space of the spinal canal. phenio_relaxed_subqs.owl NCIT:C3733 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_404057003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000085 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206635 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018209 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3736 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719049003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000074 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206637 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4545 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018211 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003041 biolink:NamedThing pediatric mesenchymal chondrosarcoma A mesenchymal chondrosarcoma occurring in children. phenio_relaxed_subqs.owl MONDO:0003042 biolink:NamedThing adult mesenchymal chondrosarcoma A mesenchymal chondrosarcoma occurring in adults. phenio_relaxed_subqs.owl NCIT:C3737 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_MCHS biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001041 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206638 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005674 biolink:NamedThing bone giant cell tumor A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint. phenio_relaxed_subqs.owl DOID:4305 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013046 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018212 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C121932 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_GCTB biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_697970009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007176 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:363976 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206640 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002119 biolink:NamedThing ossifying fibroma A well circumscribed lesion of the bone, most frequently arising from the posterior mandible. It is characterized by the presence of fibrous tissue and a mineralized component which may be woven bone, lamellar bone, or cementum-like material. Complete removal is recommended, since it continues to enlarge if left untreated. phenio_relaxed_subqs.owl DOID:180 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012792 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018214 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007660 biolink:NamedThing familial ossifying fibroma An instance of ossifying fibroma (disease) that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl NCIT:C8422 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007412 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206642 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006817 biolink:NamedThing juxtacortical osteosarcoma A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. Most patients are young adults and the prognosis is usually excellent. phenio_relaxed_subqs.owl DOID:3373 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018217 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003654 biolink:NamedThing childhood parosteal osteosarcoma A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. The prognosis is usually excellent. phenio_relaxed_subqs.owl NCIT:C8969 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_PAOS biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206648 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016824 biolink:NamedThing infantile myofibromatosis A benign, multifocal, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma. phenio_relaxed_subqs.owl DOID:0080109 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002998 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018224 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009227 biolink:NamedThing myofibromatosis, infantile, 1 Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene. phenio_relaxed_subqs.owl MONDO:0014122 biolink:NamedThing myofibromatosis, infantile, 2 Any myofibromatosis in which the cause of the disease is a mutation in the NOTCH3 gene. phenio_relaxed_subqs.owl NCIT:C3742 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_228550 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_IMS biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2591 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206661 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3301 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018238 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002697 biolink:NamedThing ovarian gonadoblastoma A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites. phenio_relaxed_subqs.owl MONDO:0002698 biolink:NamedThing testicular gonadoblastoma A testicular mixed germ cell-sex cord-stromal tumor. It is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. It is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble Sertoli cells. phenio_relaxed_subqs.owl NCIT:C3754 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_OGBL biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206666 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020552 biolink:NamedThing placental site trophoblastic tumor Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage. phenio_relaxed_subqs.owl DOID:3596 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018245 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3757 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_PSTT biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237252008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001111 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99928 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206667 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050891 biolink:NamedThing phenio_relaxed_subqs.owl DOID:656 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005745 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018246 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006174 biolink:NamedThing cortisol-producing adrenal cortex adenoma An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension. phenio_relaxed_subqs.owl MONDO:0006321 biolink:NamedThing non-functioning adrenal cortex adenoma An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease. phenio_relaxed_subqs.owl MONDO:0006408 biolink:NamedThing sex hormone-producing adrenal cortex adenoma A rare adenoma of the adrenal cortex that produces androgens or estrogens. phenio_relaxed_subqs.owl MONDO:0016505 biolink:NamedThing aldosterone-producing adrenal cortex adenoma An adenoma of the adrenal cortex that produces aldosterone. It may be associated with Conn syndrome. Clinical presentation includes hypertension, hypokalemia, and muscle weakness. phenio_relaxed_subqs.owl NCIT:C9003 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_ACA biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_302826002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0003104 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99888 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206683 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006886 biolink:NamedThing thyroid gland papillary and follicular carcinoma A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271) phenio_relaxed_subqs.owl DOID:3968 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018265 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7380 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001083 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206686 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006639 biolink:NamedThing adrenal cortex carcinoma A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival. phenio_relaxed_subqs.owl DOID:3948 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3959 biolink:NamedThing phenio_relaxed_subqs.owl DOID:660 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000558 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008734 biolink:NamedThing adrenocortical carcinoma, hereditary An instance of adrenal cortex carcinoma that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl NCIT:C9325 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_ACC biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_255035007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000796 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1501 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206693 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015277 biolink:NamedThing medullary thyroid gland carcinoma A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy. phenio_relaxed_subqs.owl UMLS:C0238462 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3973 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007004 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007958 biolink:NamedThing familial medullary thyroid carcinoma An instance of thyroid medullary carcinoma that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl NCIT:C3879 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_THME biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_255032005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1332 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206695 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018278 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000402 biolink:NamedThing small cell carcinoma A neuroendocrine carcinoma composed of small malignant cells which are often said to resemble "oat cells" under the microscope. Small cell carcinoma most often affects the lungs. Clinically, this is often a rapidly growing cancer that spreads to distant sites early. phenio_relaxed_subqs.owl MONDO:0004117 biolink:NamedThing ampulla of vater small cell neuroendocrine carcinoma An aggressive neuroendocrine carcinoma arising from the ampulla of Vater and the periampullary region. Morphologically, it is characterized by the presence of small malignant cells, necrosis, and a high mitotic rate. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss. phenio_relaxed_subqs.owl MONDO:0005057 biolink:NamedThing large cell neuroendocrine carcinoma A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas. phenio_relaxed_subqs.owl MONDO:0005893 biolink:NamedThing pancreatic endocrine carcinoma An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma. phenio_relaxed_subqs.owl MONDO:0006167 biolink:NamedThing combined lung carcinoma A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells. phenio_relaxed_subqs.owl MONDO:0006288 biolink:NamedThing malignant adrenal gland pheochromocytoma A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity. phenio_relaxed_subqs.owl MONDO:0015072 biolink:NamedThing liver neuroendocrine carcinoma An extremely rare, aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the liver. phenio_relaxed_subqs.owl MONDO:0018017 biolink:NamedThing goblet cell carcinoma Goblet cell carcinoma (GCC) is an aggressive type of endocrine tumor of the appendix presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis. phenio_relaxed_subqs.owl MONDO:0020516 biolink:NamedThing thymic neuroendocrine carcinoma Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm displaying evidence of neuroendocrine differentiation. phenio_relaxed_subqs.owl MONDO:0056816 biolink:NamedThing vulvar neuroendocrine carcinoma A neuroendocrine carcinoma that arises from the vulva. This category includes small cell and large cell neuroendocrine carcinoma. Most small cell neuroendocrine carcinomas of the vulva are Merkel cell carcinomas. phenio_relaxed_subqs.owl NCIT:C3773 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_253000007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206723 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002479 biolink:NamedThing Sertoli-Leydig cell tumor A sex cord-gonadal stromal tumor consists of leydig cells; sertoli cells; and fibroblasts in varying proportions and degree of differentiation. Most such tumors produce androgens in the Leydig cells, formerly known as androblastoma or arrhenoblastoma. Androblastomas occur in the testis or the ovary causing precocious masculinization in the males, and defeminization, or virilization (virilism) in the females. In some cases, the Sertoli cells produce estrogens. phenio_relaxed_subqs.owl DOID:2997 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009967 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018310 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000379 biolink:NamedThing malignant Sertoli-Leydig cell tumor A malignant form of Sertoli-leydig cell tumor. phenio_relaxed_subqs.owl OBO:ONCOTREE_SLCT biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206733 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2725 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018324 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002323 biolink:NamedThing cherry hemangioma A capillary hemangioma of the skin, presenting as a red papular lesion. phenio_relaxed_subqs.owl MONDO:0003896 biolink:NamedThing breast capillary hemangioma A capillary hemangioma arising from the breast. phenio_relaxed_subqs.owl MONDO:0016748 biolink:NamedThing hemangioblastoma Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported. phenio_relaxed_subqs.owl MONDO:0021627 biolink:NamedThing eyelid capillary hemangioma A capillary hemangioma arising from the eyelid. phenio_relaxed_subqs.owl NCIT:C7457 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_56975005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206734 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5241 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008232 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018325 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3801 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_HMBL biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:252054 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206735 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4359 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018328 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3802 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001937 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206746 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005786 biolink:NamedThing Hepadnaviridae infectious disease Virus diseases caused by the hepadnaviridae. phenio_relaxed_subqs.owl OBO:MESH_D018347 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007301 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206751 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005944 biolink:NamedThing Rhabdoviridae infectious disease Virus diseases caused by rhabdoviridae. Important infections include rabies; ephemeral fever; and vesicular stomatitis. phenio_relaxed_subqs.owl OBO:MESH_D018353 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007469 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0206752 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018354 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000342 biolink:NamedThing O'nyong'nyong fever An disease or disorder caused by infection with O'nyong-nyong virus. phenio_relaxed_subqs.owl MONDO:0000343 biolink:NamedThing Barmah forest virus disease A disease caused by infection with Barmah Forest virus. phenio_relaxed_subqs.owl EFO:0007142 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0220633 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6039 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008621 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536494 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003744 biolink:NamedThing spindle cell intraocular melanoma A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of spindle-shaped melanocytes. phenio_relaxed_subqs.owl MONDO:0003910 biolink:NamedThing mixed cell uveal melanoma A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells. phenio_relaxed_subqs.owl MONDO:0003927 biolink:NamedThing posterior uveal melanoma phenio_relaxed_subqs.owl MONDO:0004062 biolink:NamedThing intermediate cell type uveal melanoma Uveal melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells. phenio_relaxed_subqs.owl MONDO:0004365 biolink:NamedThing necrotic uveal melanoma A uveal melanoma characterized by the presence of tumor cell necrosis. phenio_relaxed_subqs.owl MONDO:0006200 biolink:NamedThing epithelioid cell uveal melanoma A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes. phenio_relaxed_subqs.owl NCIT:C7712 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:155720 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_UM biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000616 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:39044 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0220658 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007043 biolink:NamedThing Pfeiffer syndrome Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations. phenio_relaxed_subqs.owl DOID:14705 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007380 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019659 biolink:NamedThing Pfeiffer syndrome type 1 Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development. phenio_relaxed_subqs.owl MONDO:0019660 biolink:NamedThing Pfeiffer syndrome type 2 Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities. phenio_relaxed_subqs.owl MONDO:0019661 biolink:NamedThing Pfeiffer syndrome type 3 Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities. phenio_relaxed_subqs.owl NCIT:C99100 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:101600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_70410008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:710 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0220659 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019797 biolink:NamedThing acrodysostosis Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay. phenio_relaxed_subqs.owl DOID:14669 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005724 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538179 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007044 biolink:NamedThing acrodysostosis 1 with or without hormone resistance An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding. phenio_relaxed_subqs.owl MONDO:0013822 biolink:NamedThing acrodysostosis 2 with or without hormone resistance Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene. phenio_relaxed_subqs.owl OBO:OMIMPS_101800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_66758006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:950 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0220663 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007201 biolink:NamedThing blepharophimosis, ptosis, and epicanthus inversus syndrome Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II). phenio_relaxed_subqs.owl DOID:14778 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000023 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562419 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016857 biolink:NamedThing blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay. phenio_relaxed_subqs.owl MONDO:0016858 biolink:NamedThing blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure. phenio_relaxed_subqs.owl MONDO:0016859 biolink:NamedThing blepharophimosis-epicanthus inversus-ptosis due to copy number variations Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement. phenio_relaxed_subqs.owl MONDO:0035524 biolink:NamedThing blepharophimosis-ptosis-epicanthus inversus syndrome type 1 phenio_relaxed_subqs.owl MONDO:0035525 biolink:NamedThing blepharophimosis-ptosis-epicanthus inversus syndrome type 2 phenio_relaxed_subqs.owl OMIM:110100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715391004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:126 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0220666 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007252 biolink:NamedThing Gordon syndrome Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition. phenio_relaxed_subqs.owl OBO:GARD_0002553 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537288 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:114300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237850008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:376 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0220668 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111595 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005899 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536211 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129865 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:121050 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_205821003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:115 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0220679 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562424 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:130090 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0220686 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007839 biolink:NamedThing Aase-Smith syndrome Aase-Smith syndrome type I is a very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. phenio_relaxed_subqs.owl OBO:GARD_0005642 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535332 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:147800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718576001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:916 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0220692 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007953 biolink:NamedThing Binder syndrome A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex. phenio_relaxed_subqs.owl DOID:14683 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006992 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536036 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:155050 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715985008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1248 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0220708 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008642 biolink:NamedThing VACTERL/vater association VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. phenio_relaxed_subqs.owl UMLS:C1735591 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206312 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14679 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005443 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010752 biolink:NamedThing VACTERL association, X-linked, with or without hydrocephalus phenio_relaxed_subqs.owl NCIT:C99105 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:192350 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_27742002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:887 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0220710 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080153 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000540 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E71.311 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536038 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84538 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:201450 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_128596003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:42 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0220711 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535690 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84537 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237996001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99900 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0220722 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006027 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008955 biolink:NamedThing cerebrooculofacioskeletal syndrome 1 Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene. phenio_relaxed_subqs.owl MONDO:0012553 biolink:NamedThing cerebrooculofacioskeletal syndrome 2 Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene. phenio_relaxed_subqs.owl MONDO:0012554 biolink:NamedThing cerebrooculofacioskeletal syndrome 4 Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene. phenio_relaxed_subqs.owl MONDO:0014696 biolink:NamedThing cerebrooculofacioskeletal syndrome 3 phenio_relaxed_subqs.owl NCIT:C3817 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_214150 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1466 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0220730 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009253 biolink:NamedThing Fryns syndrome Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations. phenio_relaxed_subqs.owl OBO:GARD_0003699 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538070 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C98932 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:229850 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702432006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2059 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0220738 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562438 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:234800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0220742 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009404 biolink:NamedThing hypertelorism, microtia, facial clefting syndrome Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia. phenio_relaxed_subqs.owl DOID:14670 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000897 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537632 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:239800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721836009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2213 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0220748 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14773 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006996 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535916 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009601 biolink:NamedThing metaphyseal dysplasia without hypotrichosis phenio_relaxed_subqs.owl NCIT:C61245 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:250250 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_7720002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:175 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0220754 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN043572 biolink:NamedThing phenio_relaxed_subqs.owl DOID:856 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000894 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_D81.810 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D028921 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84598 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:253260 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_8808004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79241 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0220769 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010590 biolink:NamedThing FG syndrome 1 Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene. phenio_relaxed_subqs.owl OMIM:305450 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93932 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0220977 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001262 biolink:NamedThing African histoplasmosis An disease or disorder caused by infection with Histoplasma capsulatum var. duboisii. phenio_relaxed_subqs.owl DOID:11315 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_115.10 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_78511005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0220989 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012104 biolink:NamedThing acquired partial lipodystrophy A lipodystrophy characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs. phenio_relaxed_subqs.owl OBO:GARD_0010509 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562448 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129723 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_75659004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79087 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0220991 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000218 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:237450 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_32891000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3111 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0220992 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009345 biolink:NamedThing histidinemia Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions. phenio_relaxed_subqs.owl DOID:0060168 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006661 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E70.41 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538320 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009346 biolink:NamedThing histidinuria due to a renal tubular defect phenio_relaxed_subqs.owl OMIM:235800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_410058007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2157 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0220993 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009058 biolink:NamedThing cystathioninuria Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases. phenio_relaxed_subqs.owl UMLS:C0268616 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3495552 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090142 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002428 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129070 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:219500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_13003007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:212 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0221005 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C130997 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_80660001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0221014 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3536715 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010560 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3818 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_281034005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:85445 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0221018 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020721 biolink:NamedThing X-linked sideroblastic anemia 1 phenio_relaxed_subqs.owl DOID:0060063 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009456 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536761 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300751 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_62677000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:75563 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0221025 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000070 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D059885 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3821 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:141000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_86635005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2330 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0221026 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010421 biolink:NamedThing Bruton-type agammaglobulinemia X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, and is characterized in affected males by recurrent bacterial infections during infancy. phenio_relaxed_subqs.owl DOID:14179 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001033 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537409 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3822 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300755 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_65880007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:47 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0221027 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015696 biolink:NamedThing Good syndrome Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections. phenio_relaxed_subqs.owl DOID:0060028 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008622 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_9893005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:169105 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0221033 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005672 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535318 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129718 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_35111009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3375 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0221036 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050605 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005723 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006343 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538178 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128802 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:201100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_37702000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:37 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0221043 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050477 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007381 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D056929 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020607 biolink:NamedThing Liddle syndrome 1 Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene. phenio_relaxed_subqs.owl MONDO:0020854 biolink:NamedThing Liddle syndrome 2 Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene. phenio_relaxed_subqs.owl MONDO:0029132 biolink:NamedThing Liddle syndrome 3 phenio_relaxed_subqs.owl NCIT:C84827 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_177200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_707747007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:526 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0221060 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008006 biolink:NamedThing Mobius syndrome Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies. phenio_relaxed_subqs.owl UMLS:C0853240 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13501 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008549 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020331 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84893 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:157900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_89444000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001046 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:570 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0221290 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018447 biolink:NamedThing chondromyxoid fibroma An uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain. phenio_relaxed_subqs.owl NCIT:C3830 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000332 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:404507 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0221348 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007921 biolink:NamedThing yellow nail syndrome Yellow nail syndrome (YNS) is a very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema. phenio_relaxed_subqs.owl DOID:0050468 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000184 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_L60.5 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D056684 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85238 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:153300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_400211001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001452 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:662 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0221406 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009050 biolink:NamedThing Cushing disease due to pituitary adenoma Cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland. phenio_relaxed_subqs.owl UMLS:C1306214 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7004 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012867 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D049913 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C113210 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:219090 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254958004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:96253 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0221757 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13372 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005784 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E88.01 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_273.4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D019896 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84397 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613490 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_30188007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:60 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0221777 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001658 biolink:NamedThing nontoxic goiter Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy. phenio_relaxed_subqs.owl DOID:13195 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35271 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0234906 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562461 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:106500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_200920000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0235752 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008094 biolink:NamedThing familial multiple nevi flammei A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color. phenio_relaxed_subqs.owl UMLS:CN205384 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111529 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003986 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3840 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:163000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_416377005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:624 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0235753 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015403 biolink:NamedThing non-involuting congenital hemangioma Non-involuting congenital hemangioma (NICH) is a rare type of infantile hemangioma, which is a tumor that forms from the abnormal growth of blood vessels in the skin. NICH looks like an oval,purplish mark or bump that can occur on any part of the body. NICH is present from birth (congenital) and increases in size as the child grows. Unlike other hemangiomas, NICH do not disappear spontaneously (involute). phenio_relaxed_subqs.owl MONDO:0015404 biolink:NamedThing rapidly involuting congenital hemangioma Rapidly involuting congenital hemangiomas (RICH) are a distinctive type of congenital hemangioma that are fully formed in utero and differ from non-involuting congenital haemangiomas (NICH) mainly because they undergo rapid postnatal involution. phenio_relaxed_subqs.owl MONDO:0018716 biolink:NamedThing partially involuting congenital hemangioma A clinical subtype of congenital hemangioma that begins as a rapidly involuting congenital hemangioma (RICH) but fails to completely involute and persists as a non-involuting congenital hemangioma (NICH)-like lesion phenio_relaxed_subqs.owl NCIT:C3841 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_32361000119104 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:458775 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0235770 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002224 biolink:NamedThing malignant ovarian cyst A cystic cancerous tumor arising from the ovary. phenio_relaxed_subqs.owl DOID:2145 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3843 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0235782 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4948 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000373 biolink:NamedThing gall bladder carcinoma in situ A carcinoma in situ involving a gall bladder. phenio_relaxed_subqs.owl MONDO:0006215 biolink:NamedThing gallbladder adenocarcinoma A carcinoma that arises from glandular epithelial cells of the gall bladder. phenio_relaxed_subqs.owl MONDO:0006219 biolink:NamedThing gallbladder small cell neuroendocrine carcinoma An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells. phenio_relaxed_subqs.owl MONDO:0006220 biolink:NamedThing gallbladder squamous cell carcinoma A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells. phenio_relaxed_subqs.owl MONDO:0006476 biolink:NamedThing undifferentiated gallbladder carcinoma A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma. phenio_relaxed_subqs.owl NCIT:C3844 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_372140005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001956 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0235815 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001791 biolink:NamedThing neonatal urinary tract infectious disease phenio_relaxed_subqs.owl DOID:1375 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_12301009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0236026 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060471 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005447 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536525 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C98930 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609442 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_17231009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1906 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0236642 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008243 biolink:NamedThing Pick disease A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies. phenio_relaxed_subqs.owl DOID:11870 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007392 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_G31.01 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_331.11 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020774 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85008 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:172700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_13092008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0003096 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0236663 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_291.81 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006642 biolink:NamedThing alcohol withdrawal delirium An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include confusion; delusions; vivid hallucinations; tremor; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175) phenio_relaxed_subqs.owl OBO:SCTID_191480000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0004777 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0236970 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021699 biolink:NamedThing alcohol-induced disorders Disorders stemming from the misuse and abuse of alcohol. phenio_relaxed_subqs.owl OBO:MESH_D020751 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000408 biolink:NamedThing fetal alcohol spectrum disorder A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues. phenio_relaxed_subqs.owl MONDO:0043693 biolink:NamedThing alcoholic liver diseases A disorder caused by damage to the liver parenchyma due to alcohol consumption. It may present with an acute onset or follow a chronic course, leading to cirrhosis. phenio_relaxed_subqs.owl OBO:SCTID_719848005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0238013 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000240 biolink:NamedThing invasive aspergillosis An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage. phenio_relaxed_subqs.owl DOID:0050073 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721798004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0238027 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050354 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A48.51 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128343 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_414488002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:178478 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0238052 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4810 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005622 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D019294 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84628 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:213700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_63246000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:909 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0238111 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050561 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009912 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D065768 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014150 biolink:NamedThing developmental and epileptic encephalopathy 94 An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability. phenio_relaxed_subqs.owl MONDO:0014598 biolink:NamedThing developmental and epileptic encephalopathy, 31 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DNM1 gene. phenio_relaxed_subqs.owl MONDO:0014921 biolink:NamedThing developmental and epileptic encephalopathy, 43 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene. phenio_relaxed_subqs.owl NCIT:C84816 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606369 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_230418006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2382 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0238115 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009261 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536571 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_19995004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0238117 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5003 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005058 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131195 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_267403002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007266 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0238124 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9602 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006454 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_M72.6 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_728.86 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D019115 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84916 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_52486002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0238183 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005624 biolink:NamedThing atrophic thyroiditis Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter. phenio_relaxed_subqs.owl OBO:SCTID_83664006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0006813 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0238246 biolink:NamedThing phenio_relaxed_subqs.owl DOID:271 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3869 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_93469006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0238286 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN716584 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080490 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000094 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84896 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:252650 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111384001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:578 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0238324 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011366 biolink:NamedThing ovarian germ cell tumor A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma. phenio_relaxed_subqs.owl DOID:2156 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009330 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003281 biolink:NamedThing ovarian cystic teratoma A teratoma that arises from the ovary and is characterized by the presence of cystic structures. Representative example is the dermoid cyst. phenio_relaxed_subqs.owl MONDO:0003760 biolink:NamedThing pediatric ovarian germ cell tumor A germ cell tumor that arises from the ovary and occurs in children. phenio_relaxed_subqs.owl MONDO:0005602 biolink:NamedThing ovarian teratoma A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor. phenio_relaxed_subqs.owl MONDO:0018171 biolink:NamedThing malignant germ cell tumor of ovary Malignant germ cell tumor of ovary is a rare ovarian cancer arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen. phenio_relaxed_subqs.owl NCIT:C3873 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603737 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_OGCT biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237059008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000419 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0238357 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008224 biolink:NamedThing hyperkalemic periodic paralysis Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration. phenio_relaxed_subqs.owl UMLS:CN074266 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14451 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000195 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020513 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C123429 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:170500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_304737009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:682 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0238358 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008223 biolink:NamedThing hypokalemic periodic paralysis Hypokalemic periodic paralysis (hypoPP) is characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels. phenio_relaxed_subqs.owl DOID:14452 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006729 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020514 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013234 biolink:NamedThing hypokalemic periodic paralysis, type 2 phenio_relaxed_subqs.owl MONDO:0042979 biolink:NamedThing hypokalemic periodic paralysis, type 1 phenio_relaxed_subqs.owl NCIT:C84775 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_82732003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:681 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0238378 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009887 biolink:NamedThing desquamative interstitial pneumonia A rare idiopathic interstitial pneumonia characterized by accumulation of macrophages in alveolar spaces and interstitial inflammation. It usually occurs in smokers. Some patients develop progressive interstitial lung fibrosis. phenio_relaxed_subqs.owl DOID:0050158 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562470 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35288 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:263000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_8549006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98852 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0238402 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080038 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004611 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D058631 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131187 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:265800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_89647000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:763 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0238419 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010912 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018934 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_398318005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0238448 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006446 biolink:NamedThing testicular embryonal carcinoma A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent. phenio_relaxed_subqs.owl DOID:5680 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003788 biolink:NamedThing childhood embryonal testis carcinoma An embryonal carcinoma that arises from the testis during childhood. phenio_relaxed_subqs.owl MONDO:0004520 biolink:NamedThing intratubular embryonal carcinoma Stage 0 includes: pTis, N0, M0, S0. pTis: Intratubular germ cell neoplasia (carcinoma in situ). N0: regional lymph node metastasis. M0: No distant metastasis. S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.) phenio_relaxed_subqs.owl NCIT:C6341 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000565 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0238449 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003508 biolink:NamedThing choriocarcinoma of testis A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts. phenio_relaxed_subqs.owl DOID:5551 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003786 biolink:NamedThing childhood testicular choriocarcinoma A choriocarcinoma that arises from the testis during childhood. phenio_relaxed_subqs.owl MONDO:0003966 biolink:NamedThing testicular monophasic choriocarcinoma A choriocarcinoma that arises from the testis and is characterized by the predominance of cytotrophoblastic and intermediate trophoblastic cells. Syncytiotrophoblastic cells are absent or not prominent. phenio_relaxed_subqs.owl NCIT:C7733 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_TCCA biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000564 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0238461 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006468 biolink:NamedThing thyroid gland undifferentiated (anaplastic) carcinoma A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive. phenio_relaxed_subqs.owl DOID:0080522 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000664 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D065646 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3878 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_THAP biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_255031003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000595 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:142 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0238463 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005075 biolink:NamedThing thyroid gland papillary carcinoma A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance. phenio_relaxed_subqs.owl DOID:3969 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012027 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003701 biolink:NamedThing thyroid gland diffuse sclerosing papillary carcinoma A morphologic variant of papillary carcinoma of the thyroid gland that more often affects young patients and commonly metastasizing to the lungs. It is characterized by a diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration. phenio_relaxed_subqs.owl MONDO:0004101 biolink:NamedThing multicentric papillary thyroid carcinoma A papillary carcinoma arising from the thyroid gland from multiple foci. phenio_relaxed_subqs.owl MONDO:0004102 biolink:NamedThing columnar cell variant thyroid gland papillary carcinoma A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of pseudostratified malignant follicular cells. phenio_relaxed_subqs.owl MONDO:0004103 biolink:NamedThing tall cell variant thyroid gland papillary carcinoma A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of tall malignant follicular cells, arranged in papillary and trabecular patterns. Necrotic changes and high mitotic activity are present. phenio_relaxed_subqs.owl MONDO:0008567 biolink:NamedThing thyroid cancer, nonmedullary, 1 phenio_relaxed_subqs.owl NCIT:C4035 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_THPA biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_255029007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000641 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0238478 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009197 biolink:NamedThing transient erythroblastopenia of childhood An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy. phenio_relaxed_subqs.owl UMLS:C0451688 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007793 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536980 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131683 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:227050 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_191255003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98871 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0238590 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008716 biolink:NamedThing acrogeria A congenital skin condition characterized by premature aging, more especially in the form of unusually fragile, thin skin on the hands and feet. Its onset is in early childhood; it progresses over the next few years and then remains stable. A bruising tendency has been observed. phenio_relaxed_subqs.owl UMLS:C0406584 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006543 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538187 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:201200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238872007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0238814 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5393 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7739 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0239295 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13146 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B37.81 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_112.84 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27027 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_20639004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0240903 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007577 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D056653 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_400054000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0241828 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024414 biolink:NamedThing anaerobic cellulitis phenio_relaxed_subqs.owl OBO:SCTID_238401006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0241913 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562477 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:234350 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_235873001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0241989 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2093 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40329 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254896002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0242342 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9476 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007630 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_290653008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:91355 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0242343 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019591 biolink:NamedThing panhypopituitarism Insufficient production of all the anterior pituitary hormones. phenio_relaxed_subqs.owl DOID:9410 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_253.2 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009878 biolink:NamedThing pituitary hormone deficiency, combined, 2 Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the PROP1 gene. phenio_relaxed_subqs.owl MONDO:0010712 biolink:NamedThing panhypopituitarism, X-linked phenio_relaxed_subqs.owl NCIT:C110940 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_32390006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90695 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0242459 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4518469 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227574 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9503 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000107 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000519 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35301 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_64936001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:724 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0242490 biolink:NamedThing phenio_relaxed_subqs.owl DOID:204 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_726.90 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001533 biolink:NamedThing pes anserinus tendinitis or bursitis phenio_relaxed_subqs.owl MONDO:0001557 biolink:NamedThing olecranon bursitis A bursitis that involves the olecranon. phenio_relaxed_subqs.owl OBO:SCTID_23680005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0242634 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018419 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0025102 biolink:NamedThing monkey disease Diseases of Old World and New World monkeys. This term includes diseases of baboons but not of chimpanzees or gorillas (= ape diseases). phenio_relaxed_subqs.owl MONDO:0025152 biolink:NamedThing non-human ape disease Diseases of chimpanzees, gorillas, and orangutans. phenio_relaxed_subqs.owl UMLS:C0242635 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018420 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0242700 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4796 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018489 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001188 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0242723 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024314 biolink:NamedThing parasitemia The presence of parasites (especially malarial parasites) in the blood. (Dorland, 27th ed) phenio_relaxed_subqs.owl OBO:MESH_D018512 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0242770 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015264 biolink:NamedThing cryptogenic organizing pneumonia Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with non-specific flu-like symptoms, as well as cough and dyspnea and where no etiological agent is found. phenio_relaxed_subqs.owl DOID:0050157 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001620 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005961 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_J84.116 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018549 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C62586 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_68409003 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719218000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001300 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1302 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0242916 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005856 biolink:NamedThing Mononegavirales infectious disease Infections with viruses of the order mononegavirales. The concept includes filoviridae infections; paramyxoviridae infections; and rhabdoviridae infections. phenio_relaxed_subqs.owl OBO:MESH_D018701 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005762 biolink:NamedThing Filoviridae infectious disease Infections with viruses of the family filoviridae. The infections in humans consist of a variety of clinically similar viral hemorrhagic fevers but the natural reservoir host is unknown. phenio_relaxed_subqs.owl MONDO:0005896 biolink:NamedThing Paramyxoviridae infectious disease Infections with viruses of the family paramyxoviridae. This includes morbillivirus infections; respirovirus infections; pneumovirus infections; henipavirus infections; avulavirus infections; and rubulavirus infections. phenio_relaxed_subqs.owl EFO:0007376 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0242917 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018702 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007273 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0242992 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4661 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018777 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702772003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007382 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0242994 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005780 biolink:NamedThing hantavirus infectious disease Any infection caused by a virus of the genus Hantavirus, which is transmitted by aerosolized rodent excreta or rodent bites, that can result in a variety of clinical manifestations from hemorrhagic fever with renal syndrome to a pulmonary syndrome. phenio_relaxed_subqs.owl OBO:MESH_D018778 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005784 biolink:NamedThing hantavirus hemorrhagic fever with renal syndrome A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision. phenio_relaxed_subqs.owl NCIT:C3899 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_359761005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007295 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0243002 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080169 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005274 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018785 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85202 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605067 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_63042009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1209 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0243010 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006009 biolink:NamedThing viral encephalitis Encephalitis resulting from viral infection. phenio_relaxed_subqs.owl DOID:646 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000276 biolink:NamedThing Powassan encephalitis A disease caused by infection with Powassan virus. phenio_relaxed_subqs.owl MONDO:0003336 biolink:NamedThing acute necrotizing encephalitis A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, seizures, and coma. It may follow a viral illness or mycoplasma pneumoniae infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages. (Adams et al., Principles of Neurology, 6th ed, pp924-5) phenio_relaxed_subqs.owl MONDO:0003337 biolink:NamedThing acute hemorrhagic encephalitis Acute encephalitis that is characterized by bleeding. phenio_relaxed_subqs.owl MONDO:0017942 biolink:NamedThing Hendra virus infection Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported. phenio_relaxed_subqs.owl MONDO:0020601 biolink:NamedThing mosquito-borne viral encephalitis Viral encephalitis that is transmitted by mosquitos. phenio_relaxed_subqs.owl MONDO:0027029 biolink:NamedThing HHV-6 encephalitis HHV-6 encephalitis refers to inflammation of the brain due to an infection with human herpesvirus 6. People who have undergone allogeneic hematopoietic cell transplantation are at an increased risk for developing HHV-6 encephalitis, particularly when umbilical cord blood stem cells are used. People with immune system disorders may also be at an increased risk for developing this infection. Signs and symptoms vary, but often include confusion, anterograde amnesia (difficulty learning new information following the onset of amnesia), short-term memory loss, and seizures.Diagnosis often involves lumbar puncture, virus testing, and MRI. EEG 's may also be recommendedwhen seizures are suspected. HHV-6 encephalitis is treated with an antiviral agent with activity against HHV-6. Long term outlook (chance of full recovery) can vary considerably depending individual patient factors. phenio_relaxed_subqs.owl NCIT:C35302 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_34476008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007538 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98252 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0243025 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14472 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000069 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018804 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84747 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_120639003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007296 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:319247 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0259737 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050072 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_23892008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0259782 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004050 biolink:NamedThing telangiectatic osteogenic sarcoma An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of a cystic architecture with blood-filled spaces. The prognosis is similar to that of conventional osteosarcoma. phenio_relaxed_subqs.owl DOID:6951 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3902 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_TEOS biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0262584 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008433 biolink:NamedThing small cell lung carcinoma Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure. phenio_relaxed_subqs.owl UMLS:CN244903 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5409 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5411 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D055752 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003437 biolink:NamedThing occult small cell lung carcinoma A small cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed. phenio_relaxed_subqs.owl MONDO:0003438 biolink:NamedThing combined small cell lung carcinoma A morphologic variant of small cell lung carcinoma in combination with a non-small cell carcinoma. phenio_relaxed_subqs.owl NCIT:C4917 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:182280 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_SCLC biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254632001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000702 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:70573 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0262587 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7608 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004302 biolink:NamedThing chief cell adenoma A parathyroid gland adenoma composed predominantly of neoplastic chief cells. These cells have either slightly eosinophilic or vacuolated cytoplasm, and round nuclei. phenio_relaxed_subqs.owl MONDO:0004303 biolink:NamedThing parathyroid gland clear cell adenoma A parathyroid gland adenoma composed predominantly of neoplastic cells with clear cytoplasm. phenio_relaxed_subqs.owl MONDO:0004304 biolink:NamedThing mixed cell type adenoma of parathyroid A parathyroid gland adenoma that contains a mixture of neoplastic cells (chief cells, oncocytes, and clear cells). phenio_relaxed_subqs.owl MONDO:0004305 biolink:NamedThing parathyroid oncocytic adenoma A parathyroid gland adenoma composed predominantly or entirely of neoplastic cells with abundant granular eosinophilic cytoplasm. phenio_relaxed_subqs.owl NCIT:C3916 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_128474007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001087 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0262988 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C112210 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0263334 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008632 biolink:NamedThing urticaria, aquagenic Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria . The exact underlying cause of aquagenic urticaria is currently unknown. Due to the rarity of the condition, there is very limited data regarding the effectiveness of individual treatments; however, various medications and therapies have been used with variable success. phenio_relaxed_subqs.owl OBO:GARD_0010901 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562481 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:191850 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_89870006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0263382 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009738 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538130 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:149500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_34042008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0263385 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566832 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:167900 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0263390 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015665 biolink:NamedThing scleromyxedema Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). It often involves internal organs and may affect various body systems. The cause of scleromyxedema is not known. There is no standard treatment. Management may involve the use of intravenous immunoglobulin (IVIG), plasmapheresis, thalidomide and corticoids, or more aggressive interventions, such as autologous bone marrow transplantation. phenio_relaxed_subqs.owl UMLS:CN200092 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007615 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D053718 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85061 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_402468007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:167635 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0263398 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019526 biolink:NamedThing erythema elevatum diutinum Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses. phenio_relaxed_subqs.owl DOID:0060567 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008653 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_L95.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535509 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_58872001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0263471 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562483 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:139000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_22818000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0263591 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016474 biolink:NamedThing drug-induced lupus erythematosus An autoimmune disorder, similar to systemic lupus erythematosus, that is caused by certain drugs. phenio_relaxed_subqs.owl DOID:0040093 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C114354 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_80258006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:231111 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0263627 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010556 biolink:NamedThing X-linked chondrodysplasia punctata X-linked form of chondrodysplasia punctata. phenio_relaxed_subqs.owl DOID:0060292 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010555 biolink:NamedThing X-linked chondrodysplasia punctata 1 Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones. phenio_relaxed_subqs.owl MONDO:0010621 biolink:NamedThing CHILD syndrome CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. phenio_relaxed_subqs.owl UMLS:C0263638 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5949 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7751 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_21848000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0263639 biolink:NamedThing phenio_relaxed_subqs.owl DOID:664 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_6331000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0263640 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5948 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3927 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_62727008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0263662 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004803 biolink:NamedThing disseminated eosinophilic collagen disease phenio_relaxed_subqs.owl DOID:9499 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_423486005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0263859 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019266 biolink:NamedThing SAPHO syndrome SAPHO syndrome (acronym for Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) is an auto-inflammatory disease, mainly characterized by the association of neutrophilic cutaneous involvement and chronic osteomyelitis. phenio_relaxed_subqs.owl DOID:13677 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007606 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020083 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C119049 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_60684003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001164 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:793 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0263872 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27155 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_68675004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0263962 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3887895 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12581 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_M70.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_726.33 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_425940002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0264000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_M72.1 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:149100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_16687001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0264005 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006351 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C112116 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:226350 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_24129002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3165 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0264099 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002380 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535636 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_28466007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:564003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0264511 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009537 biolink:NamedThing lymphoid interstitial pneumonia Interstitial pneumonia characterized by the presence of bibasilar pulmonary interstitial infiltrates composed of lymphocytes and plasma cells. It may be associated with autoimmune and lymphoproliferative disorders. Signs and symptoms include fever, cough, and dyspnea. Symptomatic patients may require immunosuppressive treatment. phenio_relaxed_subqs.owl DOID:0050159 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_J84.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562489 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27558 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:247610 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_44274007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79128 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0264906 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1621824 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050822 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020744 biolink:NamedThing Mobitz type I atrioventricular block A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a progressively lengthening PR interval prior to the block of an atrial impulse. (CDISC) phenio_relaxed_subqs.owl NCIT:C111119 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_195042002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265201 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199649 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008276 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535992 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84666 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:278800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_414673004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1569 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265202 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019342 biolink:NamedThing Seckel syndrome A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance. phenio_relaxed_subqs.owl DOID:0050569 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008562 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008869 biolink:NamedThing Seckel syndrome 1 Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene. phenio_relaxed_subqs.owl MONDO:0010900 biolink:NamedThing intrauterine growth retardation with increased mitomycin c sensitivity phenio_relaxed_subqs.owl MONDO:0011715 biolink:NamedThing Seckel syndrome 2 Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene. phenio_relaxed_subqs.owl MONDO:0013358 biolink:NamedThing Seckel syndrome 4 Any Seckel syndrome in which the cause of the disease is a mutation in the CENPJ gene. phenio_relaxed_subqs.owl MONDO:0013443 biolink:NamedThing Seckel syndrome 5 Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene. phenio_relaxed_subqs.owl MONDO:0013871 biolink:NamedThing Seckel syndrome 6 Any Seckel syndrome in which the cause of the disease is a mutation in the CEP63 gene. phenio_relaxed_subqs.owl MONDO:0013922 biolink:NamedThing Seckel syndrome 7 Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated. phenio_relaxed_subqs.owl MONDO:0014350 biolink:NamedThing Seckel syndrome 8 Any Seckel syndrome in which the cause of the disease is a mutation in the DNA2 gene. phenio_relaxed_subqs.owl MONDO:0014473 biolink:NamedThing microcephaly 13, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene. phenio_relaxed_subqs.owl MONDO:0014767 biolink:NamedThing Seckel syndrome 9 Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene. phenio_relaxed_subqs.owl MONDO:0014991 biolink:NamedThing Seckel syndrome 10 Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene. phenio_relaxed_subqs.owl NCIT:C125488 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_210600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_57917004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:808 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265205 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019978 biolink:NamedThing Robinow syndrome Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. phenio_relaxed_subqs.owl UMLS:CN776872 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060254 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000312 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008389 biolink:NamedThing autosomal dominant Robinow syndrome Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. phenio_relaxed_subqs.owl MONDO:0009999 biolink:NamedThing autosomal recessive Robinow syndrome Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. phenio_relaxed_subqs.owl MONDO:0014819 biolink:NamedThing autosomal dominant Robinow syndrome 3 Any Robinow syndrome in which the cause of the disease is a mutation in the DVL3 gene. phenio_relaxed_subqs.owl MONDO:0032800 biolink:NamedThing robinow syndrome, autosomal recessive 2 phenio_relaxed_subqs.owl NCIT:C85048 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_268310 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:97360 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265210 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010193 biolink:NamedThing Weaver syndrome Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry. phenio_relaxed_subqs.owl UMLS:CN036342 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14731 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007878 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536687 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C125599 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:277590 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_63119004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3447 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265211 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011244 biolink:NamedThing Marshall-Smith syndrome Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth. phenio_relaxed_subqs.owl DOID:0050858 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006985 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536026 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602535 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_73284007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:561 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265215 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050778 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003436 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009571 biolink:NamedThing Meckel syndrome, type 1 Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene. phenio_relaxed_subqs.owl MONDO:0009966 biolink:NamedThing NPHP3-related Meckel-like syndrome phenio_relaxed_subqs.owl MONDO:0011296 biolink:NamedThing Meckel syndrome, type 2 Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene. phenio_relaxed_subqs.owl MONDO:0011821 biolink:NamedThing Meckel syndrome, type 3 Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene. phenio_relaxed_subqs.owl MONDO:0012626 biolink:NamedThing Meckel syndrome, type 4 Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene. phenio_relaxed_subqs.owl MONDO:0012695 biolink:NamedThing Meckel syndrome, type 5 Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene. phenio_relaxed_subqs.owl MONDO:0012848 biolink:NamedThing Meckel syndrome, type 6 Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene. phenio_relaxed_subqs.owl MONDO:0013482 biolink:NamedThing Meckel syndrome, type 8 Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene. phenio_relaxed_subqs.owl MONDO:0013609 biolink:NamedThing Meckel syndrome, type 10 Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene. phenio_relaxed_subqs.owl MONDO:0013630 biolink:NamedThing Meckel syndrome, type 9 Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene. phenio_relaxed_subqs.owl MONDO:0014164 biolink:NamedThing Meckel syndrome, type 11 Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene. phenio_relaxed_subqs.owl MONDO:0014552 biolink:NamedThing lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise. phenio_relaxed_subqs.owl MONDO:0033044 biolink:NamedThing Meckel syndrome 13 phenio_relaxed_subqs.owl NCIT:C98978 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_249000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_29076005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:564 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265218 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000179 biolink:NamedThing Neu-Laxova syndrome Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. phenio_relaxed_subqs.owl OBO:GARD_0000102 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536405 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009736 biolink:NamedThing Neu-Laxova syndrome 1 Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene. phenio_relaxed_subqs.owl MONDO:0014466 biolink:NamedThing Neu-Laxova syndrome 2 Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PSAT1 gene. phenio_relaxed_subqs.owl NCIT:C14089 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_256520 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_77817004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2671 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265219 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009532 biolink:NamedThing Miller-Dieker lissencephaly syndrome A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip. phenio_relaxed_subqs.owl DOID:0060469 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003669 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C124852 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:247200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_253148005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:531 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265220 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007804 biolink:NamedThing Pallister-Hall syndrome Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations. phenio_relaxed_subqs.owl DOID:9248 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007305 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D054975 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009436 biolink:NamedThing congenital hypothalamic hamartoma syndrome Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic. phenio_relaxed_subqs.owl NCIT:C84987 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:146510 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_56677004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:672 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265224 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111604 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006466 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535483 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010197 biolink:NamedThing whistling face syndrome, recessive form phenio_relaxed_subqs.owl NCIT:C98931 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:193700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_52616002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2053 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265227 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000117 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536632 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129308 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:269150 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_18899000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:798 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265233 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009046 biolink:NamedThing Fraser syndrome Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly. phenio_relaxed_subqs.owl DOID:0090001 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006465 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D058497 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0054737 biolink:NamedThing Fraser syndrome 1 phenio_relaxed_subqs.owl MONDO:0054738 biolink:NamedThing Fraser syndrome 2 phenio_relaxed_subqs.owl MONDO:0054739 biolink:NamedThing Fraser syndrome 3 phenio_relaxed_subqs.owl NCIT:C118436 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_219000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_204102004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2052 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265234 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007029 biolink:NamedThing branchio-oto-renal syndrome A syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). phenio_relaxed_subqs.owl UMLS:CN043574 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14702 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010147 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D019280 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007236 biolink:NamedThing branchiootorenal syndrome 1 phenio_relaxed_subqs.owl MONDO:0012575 biolink:NamedThing branchiootorenal syndrome 2 Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene. phenio_relaxed_subqs.owl NCIT:C98983 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_290006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001251 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:107 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265235 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111510 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006984 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536025 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128115 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:154780 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_33410002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:560 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265240 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2907 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006540 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012074 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006053 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000107 biolink:NamedThing auriculocondylar syndrome Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress. phenio_relaxed_subqs.owl MONDO:0015398 biolink:NamedThing hemifacial microsomia phenio_relaxed_subqs.owl NCIT:C84740 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:164210 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_367462009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:141132 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:374 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265241 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002457 biolink:NamedThing Treacher-Collins syndrome Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. phenio_relaxed_subqs.owl DOID:2908 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009124 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007944 biolink:NamedThing Treacher-Collins syndrome 1 Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the TCOF1 gene. phenio_relaxed_subqs.owl MONDO:0009558 biolink:NamedThing Treacher Collins syndrome 3 Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene. phenio_relaxed_subqs.owl MONDO:0013385 biolink:NamedThing Treacher Collins syndrome 2 Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene. phenio_relaxed_subqs.owl MONDO:0030067 biolink:NamedThing treacher collins syndrome 4 phenio_relaxed_subqs.owl NCIT:C75018 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_154500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_62767009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:861 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265245 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007943 biolink:NamedThing Nager acrofacial dysostosis Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects. phenio_relaxed_subqs.owl DOID:5768 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000498 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538184 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:154400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_35520007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:245 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265246 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007142 biolink:NamedThing Townes-Brocks syndrome Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart. phenio_relaxed_subqs.owl UMLS:CN034849 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050887 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007784 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536974 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0054581 biolink:NamedThing Townes-Brocks syndrome 1 phenio_relaxed_subqs.owl MONDO:0054582 biolink:NamedThing Townes-Brocks syndrome 2 phenio_relaxed_subqs.owl NCIT:C99085 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_107480 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_24750000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:857 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265252 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010561 biolink:NamedThing Coffin-Lowry syndrome Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes. phenio_relaxed_subqs.owl DOID:3783 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006123 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008589 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536435 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D038921 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84643 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:303600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_15182000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:192 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265253 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019354 biolink:NamedThing Stickler syndrome Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). phenio_relaxed_subqs.owl DOID:0080046 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010782 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007160 biolink:NamedThing Stickler syndrome type 1 phenio_relaxed_subqs.owl MONDO:0011493 biolink:NamedThing Stickler syndrome type 2 Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21). phenio_relaxed_subqs.owl MONDO:0016647 biolink:NamedThing autosomal recessive Stickler syndrome A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed. phenio_relaxed_subqs.owl NCIT:C74984 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_108300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_78675000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:828 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265255 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019176 biolink:NamedThing trichorhinophalangeal syndrome type I or III Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones. phenio_relaxed_subqs.owl OBO:OMIMPS_190350 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_18077009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:324764 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265259 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060055 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562509 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007334 biolink:NamedThing autosomal dominant popliteal pterygium syndrome Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. phenio_relaxed_subqs.owl NCIT:C118786 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_66783006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:294963 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265264 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060468 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006666 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535326 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007702 biolink:NamedThing heart-hand syndrome type 3 Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. phenio_relaxed_subqs.owl NCIT:C125592 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:142900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_19092004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:392 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265265 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015253 biolink:NamedThing Diamond-Blackfan anemia A congenital aregenerative and often macrocytic anemia with erythroblastopenia. phenio_relaxed_subqs.owl UMLS:C1260899 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1339 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006274 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D029503 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007110 biolink:NamedThing Diamond-Blackfan anemia 1 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene. phenio_relaxed_subqs.owl MONDO:0010493 biolink:NamedThing Diamond-Blackfan anemia 14 with mandibulofacial dysostosis Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene. phenio_relaxed_subqs.owl MONDO:0011639 biolink:NamedThing Diamond-Blackfan anemia 15 with mandibulofacial dysostosis Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene. phenio_relaxed_subqs.owl MONDO:0012529 biolink:NamedThing Diamond-Blackfan anemia 3 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS24 gene. phenio_relaxed_subqs.owl MONDO:0012924 biolink:NamedThing Diamond-Blackfan anemia 4 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS17 gene. phenio_relaxed_subqs.owl MONDO:0012925 biolink:NamedThing Diamond-Blackfan anemia 5 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL35A gene. phenio_relaxed_subqs.owl MONDO:0012937 biolink:NamedThing Diamond-Blackfan anemia 6 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL5 gene. phenio_relaxed_subqs.owl MONDO:0012938 biolink:NamedThing Diamond-Blackfan anemia 7 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL11 gene. phenio_relaxed_subqs.owl MONDO:0012939 biolink:NamedThing Diamond-Blackfan anemia 8 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS7 gene. phenio_relaxed_subqs.owl MONDO:0013216 biolink:NamedThing Diamond-Blackfan anemia 9 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS10 gene. phenio_relaxed_subqs.owl MONDO:0013217 biolink:NamedThing Diamond-Blackfan anemia 10 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS26 gene. phenio_relaxed_subqs.owl MONDO:0013964 biolink:NamedThing Diamond-Blackfan anemia 11 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL26 gene. phenio_relaxed_subqs.owl MONDO:0014245 biolink:NamedThing Diamond-Blackfan anemia 12 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene. phenio_relaxed_subqs.owl MONDO:0014394 biolink:NamedThing Diamond-Blackfan anemia 13 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS29 gene. phenio_relaxed_subqs.owl MONDO:0032668 biolink:NamedThing Diamond-Blackfan anemia 18 phenio_relaxed_subqs.owl MONDO:0032669 biolink:NamedThing Diamond-Blackfan anemia 19 phenio_relaxed_subqs.owl MONDO:0032670 biolink:NamedThing Diamond-Blackfan anemia 20 phenio_relaxed_subqs.owl MONDO:0044309 biolink:NamedThing Diamond-Blackfan anemia 16 phenio_relaxed_subqs.owl MONDO:0044310 biolink:NamedThing Diamond-Blackfan anemia 17 phenio_relaxed_subqs.owl NCIT:C61236 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_105650 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_88854002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:124 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265267 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006039 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562515 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:308050 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_17608003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:139 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265269 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007872 biolink:NamedThing LADD syndrome Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations. phenio_relaxed_subqs.owl DOID:0050331 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006848 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538132 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:149730 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_23817003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2363 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265275 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050592 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003049 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537571 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008831 biolink:NamedThing asphyxiating thoracic dystrophy 1 An asphyxiating thoracic dystrophy associated with variation in the region 15q13. phenio_relaxed_subqs.owl MONDO:0009894 biolink:NamedThing short-rib thoracic dysplasia 6 with or without polydactyly A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia. phenio_relaxed_subqs.owl MONDO:0009964 biolink:NamedThing short-rib thoracic dysplasia 9 with or without polydactyly An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. phenio_relaxed_subqs.owl MONDO:0010024 biolink:NamedThing Beemer-Langer syndrome Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal. phenio_relaxed_subqs.owl MONDO:0012644 biolink:NamedThing asphyxiating thoracic dystrophy 2 Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene. phenio_relaxed_subqs.owl MONDO:0013127 biolink:NamedThing asphyxiating thoracic dystrophy 3 An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. phenio_relaxed_subqs.owl MONDO:0013441 biolink:NamedThing asphyxiating thoracic dystrophy 4 An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24. phenio_relaxed_subqs.owl MONDO:0013569 biolink:NamedThing short-rib thoracic dysplasia 7 with or without polydactyly An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1. phenio_relaxed_subqs.owl MONDO:0013717 biolink:NamedThing asphyxiating thoracic dystrophy 5 Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene. phenio_relaxed_subqs.owl MONDO:0014214 biolink:NamedThing short-rib thoracic dysplasia 8 with or without polydactyly An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36. phenio_relaxed_subqs.owl MONDO:0014284 biolink:NamedThing short-rib thoracic dysplasia 10 with or without polydactyly An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. phenio_relaxed_subqs.owl MONDO:0014287 biolink:NamedThing short-rib thoracic dysplasia 11 with or without polydactyly An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34. phenio_relaxed_subqs.owl MONDO:0014577 biolink:NamedThing short-rib thoracic dysplasia 13 with or without polydactyly An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23. phenio_relaxed_subqs.owl MONDO:0014688 biolink:NamedThing short-rib thoracic dysplasia 14 with polydactyly An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23. phenio_relaxed_subqs.owl MONDO:0014907 biolink:NamedThing short-rib thoracic dysplasia 15 with polydactyly phenio_relaxed_subqs.owl MONDO:0014915 biolink:NamedThing short-rib thoracic dysplasia 16 with or without polydactyly phenio_relaxed_subqs.owl MONDO:0030356 biolink:NamedThing short-rib thoracic dysplasia 21 without polydactyly phenio_relaxed_subqs.owl MONDO:0033485 biolink:NamedThing short-rib thoracic dysplasia 19 with or without polydactyly phenio_relaxed_subqs.owl MONDO:0036483 biolink:NamedThing short-rib thoracic dysplasia 18 with polydactyly phenio_relaxed_subqs.owl MONDO:0044328 biolink:NamedThing short-rib thoracic dysplasia 20 with polydactyly Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330). phenio_relaxed_subqs.owl MONDO:0054565 biolink:NamedThing short-rib thoracic dysplasia 17 with or without polydactyly phenio_relaxed_subqs.owl NCIT:C84794 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_208500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_75049004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:474 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265279 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007987 biolink:NamedThing Kniest dysplasia Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root). phenio_relaxed_subqs.owl DOID:0080045 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006841 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537207 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C125594 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:156550 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_53974002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:485 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265286 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111167 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006295 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010583 biolink:NamedThing Dyggve-Melchior-Clausen syndrome, X-linked X-linked form of Dyggve-Melchior-Clausen disease. phenio_relaxed_subqs.owl NCIT:C124844 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:223800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_82699004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:239 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265291 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537020 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007478 biolink:NamedThing autosomal dominant Kenny-Caffey syndrome An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones. phenio_relaxed_subqs.owl MONDO:0009486 biolink:NamedThing autosomal recessive Kenny-Caffey syndrome An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet. phenio_relaxed_subqs.owl NCIT:C130991 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_127000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_82837002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2333 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265306 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14761 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006550 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537300 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35255 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:175700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_32985001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:380 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265313 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050475 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004936 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D056846 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010194 biolink:NamedThing Weill-Marchesani syndrome 1 Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene. phenio_relaxed_subqs.owl MONDO:0012013 biolink:NamedThing Weill-Marchesani syndrome 2, dominant A Weill-Marchesani syndrome characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome. phenio_relaxed_subqs.owl MONDO:0013176 biolink:NamedThing Weill-Marchesani 4 syndrome, recessive phenio_relaxed_subqs.owl MONDO:0013899 biolink:NamedThing Weill-Marchesani syndrome 3 Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene. phenio_relaxed_subqs.owl NCIT:C85226 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_277600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_2884008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3449 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265321 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018892 biolink:NamedThing Wyburn-Mason syndrome Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex. phenio_relaxed_subqs.owl OBO:GARD_0007900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536752 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_6729006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:53719 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265325 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4321324 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000420 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536928 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C130202 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:276300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_61665008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:252202 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265326 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007924 biolink:NamedThing Bannayan-Riley-Ruvalcaba syndrome Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis. phenio_relaxed_subqs.owl DOID:0050657 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005887 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3939 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:153480 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_21984008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:109 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265334 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016471 biolink:NamedThing pachyonychia congenita Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa. phenio_relaxed_subqs.owl DOID:0050449 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010753 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D053549 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008173 biolink:NamedThing pachyonychia congenita 1 Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene. phenio_relaxed_subqs.owl MONDO:0008174 biolink:NamedThing pachyonychia congenita 2 Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 gene. phenio_relaxed_subqs.owl MONDO:0009827 biolink:NamedThing pachyonychia congenita, autosomal recessive phenio_relaxed_subqs.owl MONDO:0014324 biolink:NamedThing pachyonychia congenita 3 Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6A gene. phenio_relaxed_subqs.owl MONDO:0014325 biolink:NamedThing pachyonychia congenita 4 Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene. phenio_relaxed_subqs.owl NCIT:C84986 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_167200 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2309 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265336 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205136 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003113 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007850 biolink:NamedThing autosomal dominant keratitis-ichthyosis-hearing loss syndrome Autosomal dominant form of KID syndrome. phenio_relaxed_subqs.owl MONDO:0009440 biolink:NamedThing ichthyosiform erythroderma, corneal involvement, and hearing loss phenio_relaxed_subqs.owl MONDO:0011245 biolink:NamedThing ichthyosis, hystrix-like, with hearing loss phenio_relaxed_subqs.owl OBO:OMIMPS_148210 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_2625009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:477 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265338 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015452 biolink:NamedThing Coffin-Siris syndrome Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations. phenio_relaxed_subqs.owl DOID:1925 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006124 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536436 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007617 biolink:NamedThing Coffin-Siris syndrome 1 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1B gene. phenio_relaxed_subqs.owl MONDO:0013819 biolink:NamedThing intellectual disability, autosomal dominant 14 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1A gene. phenio_relaxed_subqs.owl MONDO:0013820 biolink:NamedThing intellectual disability, autosomal dominant 15 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCB1 gene. phenio_relaxed_subqs.owl MONDO:0013821 biolink:NamedThing intellectual disability, autosomal dominant 16 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene. phenio_relaxed_subqs.owl MONDO:0014376 biolink:NamedThing intellectual disability, autosomal dominant 27 phenio_relaxed_subqs.owl MONDO:0014838 biolink:NamedThing Coffin-Siris syndrome 5 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene. phenio_relaxed_subqs.owl MONDO:0025699 biolink:NamedThing Coffin-Siris syndrome 12 phenio_relaxed_subqs.owl MONDO:0032702 biolink:NamedThing Coffin-Siris syndrome 8 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCC2 gene. phenio_relaxed_subqs.owl MONDO:0032791 biolink:NamedThing Coffin-Siris syndrome 10 phenio_relaxed_subqs.owl MONDO:0032912 biolink:NamedThing Coffin-Siris syndrome 11 phenio_relaxed_subqs.owl MONDO:0054831 biolink:NamedThing Coffin-Siris syndrome 7 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the DPF2 gene. phenio_relaxed_subqs.owl NCIT:C35321 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_135900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_10007009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1465 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265339 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010537 biolink:NamedThing Borjeson-Forssman-Lehmann syndrome Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes. phenio_relaxed_subqs.owl DOID:0050681 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000936 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536575 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:301900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_21634003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:127 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265344 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050470 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006885 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D056731 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84676 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:246200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111307005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:508 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265345 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007922 biolink:NamedThing lymphedema-distichiasis syndrome Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations. phenio_relaxed_subqs.owl DOID:0111509 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000333 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537710 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128191 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:153400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_8634009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:33001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265354 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008965 biolink:NamedThing CHARGE syndrome CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). phenio_relaxed_subqs.owl DOID:0050834 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000029 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D058747 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C75100 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:214800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_47535005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:138 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265372 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006435 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_Q86.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537922 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C98927 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_70065001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1912 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265373 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016009 biolink:NamedThing fetal trimethadione syndrome Fetal trimethadione syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects. phenio_relaxed_subqs.owl OBO:MESH_C537798 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009272 biolink:NamedThing German syndrome German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987. phenio_relaxed_subqs.owl OBO:SCTID_66351003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1913 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265374 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008580 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536683 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C98906 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_38323006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1914 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265377 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016378 biolink:NamedThing maternal hyperthermia induced birth defects Maternal hyperthermia induced birth defects is a rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached. phenio_relaxed_subqs.owl OBO:GARD_0002856 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_765138001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2216 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265384 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050739 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012504 biolink:NamedThing camptodactyly-tall stature-scoliosis-hearing loss syndrome Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. phenio_relaxed_subqs.owl MONDO:0012544 biolink:NamedThing brachydactyly-syndactyly syndrome Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common. phenio_relaxed_subqs.owl OBO:SCTID_1899006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265385 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050736 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001734 biolink:NamedThing tuberous sclerosis Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade. phenio_relaxed_subqs.owl MONDO:0004691 biolink:NamedThing autosomal dominant polycystic kidney disease Autosomal dominant form of polycystic kidney disease. phenio_relaxed_subqs.owl MONDO:0005835 biolink:NamedThing Lynch syndrome An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present. phenio_relaxed_subqs.owl MONDO:0007030 biolink:NamedThing autosomal dominant Aarskog syndrome phenio_relaxed_subqs.owl MONDO:0007072 biolink:NamedThing ADULT syndrome ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. phenio_relaxed_subqs.owl MONDO:0007086 biolink:NamedThing autosomal dominant Alport syndrome Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell. phenio_relaxed_subqs.owl MONDO:0007092 biolink:NamedThing amelogenesis imperfecta type 1B Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ENAM gene. phenio_relaxed_subqs.owl MONDO:0007232 biolink:NamedThing autosomal dominant brachyolmia Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood. phenio_relaxed_subqs.owl MONDO:0007235 biolink:NamedThing branchiooculofacial syndrome Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth. phenio_relaxed_subqs.owl MONDO:0007352 biolink:NamedThing renal coloboma syndrome Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia. phenio_relaxed_subqs.owl MONDO:0007356 biolink:NamedThing Lynch syndrome 1 Any Lynch syndrome in which the cause of the disease is a mutation in the MSH2 gene. phenio_relaxed_subqs.owl MONDO:0007412 biolink:NamedThing Beare-Stevenson cutis gyrata syndrome Cutis Gyrata-Acanthosis nigricans-craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy. phenio_relaxed_subqs.owl MONDO:0007447 biolink:NamedThing autosomal dominant vibratory urticaria An autosomal dominant disease characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum. phenio_relaxed_subqs.owl MONDO:0007450 biolink:NamedThing neurohypophyseal diabetes insipidus Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis. phenio_relaxed_subqs.owl MONDO:0007524 biolink:NamedThing autosomal dominant Ehlers-Danlos syndrome, vascular type The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported. phenio_relaxed_subqs.owl MONDO:0007607 biolink:NamedThing Birt-Hogg-Dube syndrome Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977. phenio_relaxed_subqs.owl MONDO:0007619 biolink:NamedThing isolated congenital adermatoglyphia Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. phenio_relaxed_subqs.owl MONDO:0007624 biolink:NamedThing Flynn-Aird syndrome Flynn-Aird syndrome is a neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. It has been described in 10 members from five generations of one family. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts. Flynn-Aird syndrome is transmitted as an autosomal dominant trait. It shows some similarities to the syndromes of Werner, Refsum and Cockayne. phenio_relaxed_subqs.owl MONDO:0007698 biolink:NamedThing hand-foot-genital syndrome Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects. phenio_relaxed_subqs.owl MONDO:0007757 biolink:NamedThing hyperkeratosis-hyperpigmentation syndrome Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993. phenio_relaxed_subqs.owl MONDO:0007779 biolink:NamedThing autosomal dominant Opitz G/BBB syndrome Autosomal dominant form of Opitz G/BBB syndrome. phenio_relaxed_subqs.owl MONDO:0007818 biolink:NamedThing Hyper-IgE recurrent infection syndrome 1 A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome. phenio_relaxed_subqs.owl MONDO:0007848 biolink:NamedThing autosomal dominant keratitis Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia. phenio_relaxed_subqs.owl MONDO:0007964 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 2 Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed) phenio_relaxed_subqs.owl MONDO:0008003 biolink:NamedThing autosomal dominant progressive external ophthalmoplegia Autosomal dominant form of progressive external ophthalmoplegia. phenio_relaxed_subqs.owl MONDO:0008009 biolink:NamedThing monilethrix Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis. phenio_relaxed_subqs.owl MONDO:0008018 biolink:NamedThing Muir-Torre syndrome Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma. phenio_relaxed_subqs.owl MONDO:0008048 biolink:NamedThing autosomal dominant centronuclear myopathy Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. phenio_relaxed_subqs.owl MONDO:0008123 biolink:NamedThing autosomal dominant omodysplasia Autosomal dominant form of omodysplasia. phenio_relaxed_subqs.owl MONDO:0008264 biolink:NamedThing autosomal dominant medullary cystic kidney disease with or without hyperuricemia A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1). phenio_relaxed_subqs.owl MONDO:0008276 biolink:NamedThing generalized juvenile polyposis/juvenile polyposis coli phenio_relaxed_subqs.owl MONDO:0008338 biolink:NamedThing contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A phenio_relaxed_subqs.owl MONDO:0008368 biolink:NamedThing autosomal dominant distal renal tubular acidosis Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia. phenio_relaxed_subqs.owl MONDO:0008382 biolink:NamedThing retinoschisis, autosomal dominant Autosomal dominant form of retinoschisis. phenio_relaxed_subqs.owl MONDO:0008408 biolink:NamedThing scapuloperoneal spinal muscular atrophy, autosomal dominant phenio_relaxed_subqs.owl MONDO:0008422 biolink:NamedThing autosomal dominant sideroblastic anemia Autosomal dominant form of sideroblastic anemia. phenio_relaxed_subqs.owl MONDO:0008474 biolink:NamedThing spondyloepiphyseal dysplasia tarda, autosomal dominant Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies. phenio_relaxed_subqs.owl MONDO:0008511 biolink:NamedThing proximal symphalangism Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients. phenio_relaxed_subqs.owl MONDO:0008521 biolink:NamedThing tarsal-carpal coalition syndrome Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges. phenio_relaxed_subqs.owl MONDO:0008546 biolink:NamedThing thanatophoric dysplasia type 1 Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly. phenio_relaxed_subqs.owl MONDO:0008633 biolink:NamedThing Muckle-Wells syndrome Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type). phenio_relaxed_subqs.owl MONDO:0008660 biolink:NamedThing autosomal dominant hypophosphatemic rickets Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia. phenio_relaxed_subqs.owl MONDO:0008682 biolink:NamedThing Denys-Drash syndrome Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma. phenio_relaxed_subqs.owl MONDO:0008742 biolink:NamedThing autosomal dominant severe congenital neutropenia Autosomal dominant form of severe congenital neutropenia. phenio_relaxed_subqs.owl MONDO:0010004 biolink:NamedThing EEC syndrome EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate). phenio_relaxed_subqs.owl MONDO:0010842 biolink:NamedThing multiple cutaneous and mucosal venous malformations Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa. phenio_relaxed_subqs.owl MONDO:0011335 biolink:NamedThing spondyloepimetaphyseal dysplasia with multiple dislocations A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity. phenio_relaxed_subqs.owl MONDO:0011512 biolink:NamedThing Brooke-Spiegler syndrome Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma. phenio_relaxed_subqs.owl MONDO:0011537 biolink:NamedThing macrocephaly-autism syndrome An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material basis in heterozygous mutation in the PTEN gene on chromosome 10q23. phenio_relaxed_subqs.owl MONDO:0011812 biolink:NamedThing Duane-radial ray syndrome A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disc coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant. phenio_relaxed_subqs.owl MONDO:0012249 biolink:NamedThing colorectal cancer, hereditary nonpolyposis, type 2 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH1 gene. phenio_relaxed_subqs.owl MONDO:0012417 biolink:NamedThing heart-hand syndrome, Slovenian type A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. phenio_relaxed_subqs.owl MONDO:0012497 biolink:NamedThing congenital stationary night blindness autosomal dominant 3 A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21. phenio_relaxed_subqs.owl MONDO:0012833 biolink:NamedThing Crouzon syndrome-acanthosis nigricans syndrome Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN). phenio_relaxed_subqs.owl MONDO:0012868 biolink:NamedThing thrombophilia due to protein S deficiency, autosomal dominant Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency. phenio_relaxed_subqs.owl MONDO:0013521 biolink:NamedThing dyskeratosis congenita, autosomal dominant 2 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33. phenio_relaxed_subqs.owl MONDO:0013522 biolink:NamedThing dyskeratosis congenita, autosomal dominant 3 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12. phenio_relaxed_subqs.owl MONDO:0013695 biolink:NamedThing colorectal cancer, hereditary nonpolyposis, type 6 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the TGFBR2 gene. phenio_relaxed_subqs.owl MONDO:0013699 biolink:NamedThing colorectal cancer, hereditary nonpolyposis, type 4 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the PMS2 gene. phenio_relaxed_subqs.owl MONDO:0013710 biolink:NamedThing colorectal cancer, hereditary nonpolyposis, type 5 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MSH6 gene. phenio_relaxed_subqs.owl MONDO:0013725 biolink:NamedThing colorectal cancer, hereditary nonpolyposis, type 7 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH3 gene. phenio_relaxed_subqs.owl MONDO:0014227 biolink:NamedThing hypopigmentation-punctate palmoplantar keratoderma syndrome phenio_relaxed_subqs.owl MONDO:0014658 biolink:NamedThing severe achondroplasia-developmental delay-acanthosis nigricans syndrome Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3). phenio_relaxed_subqs.owl MONDO:0014690 biolink:NamedThing dyskeratosis congenita, autosomal dominant 6 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of ACD on chromosome 16q22.1. phenio_relaxed_subqs.owl MONDO:0015087 biolink:NamedThing autosomal dominant complex spastic paraplegia Autosomal dominant form of complex hereditary spastic paraplegia. phenio_relaxed_subqs.owl MONDO:0015088 biolink:NamedThing autosomal dominant pure spastic paraplegia Autosomal dominant form of pure hereditary spastic paraplegia. phenio_relaxed_subqs.owl MONDO:0015140 biolink:NamedThing early-onset autosomal dominant Alzheimer disease A progressive dementia with reduction of cognitive functions. It presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old. phenio_relaxed_subqs.owl MONDO:0015151 biolink:NamedThing muscular dystrophy, limb-girdle, autosomal dominant Autosomal dominant form of limb-girdle muscular dystrophy. phenio_relaxed_subqs.owl MONDO:0015285 biolink:NamedThing Carney complex Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas. phenio_relaxed_subqs.owl MONDO:0015359 biolink:NamedThing autosomal dominant hereditary demyelinating motor and sensory neuropathy phenio_relaxed_subqs.owl MONDO:0015360 biolink:NamedThing autosomal dominant hereditary axonal motor and sensory neuropathy phenio_relaxed_subqs.owl MONDO:0015362 biolink:NamedThing autosomal dominant distal hereditary motor neuropathy Autosomal dominant form of distal hereditary motor neuropathy. phenio_relaxed_subqs.owl MONDO:0015826 biolink:NamedThing autosomal dominant spondylocostal dysostosis Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs. phenio_relaxed_subqs.owl MONDO:0015884 biolink:NamedThing autosomal dominant hypohidrotic ectodermal dysplasia Autosomal dominant form of hypohidrotic ectodermal dysplasia. phenio_relaxed_subqs.owl MONDO:0016108 biolink:NamedThing autosomal dominant distal myopathy Autosomal dominant form of distal myopathy. phenio_relaxed_subqs.owl MONDO:0016202 biolink:NamedThing autosomal dominant rhegmatogenous retinal detachment Autosomal dominant form of rhegmatogenous retinal detachment. phenio_relaxed_subqs.owl MONDO:0016224 biolink:NamedThing autosomal dominant proximal spinal muscular atrophy Autosomal dominant form of proximal spinal muscular atrophy. phenio_relaxed_subqs.owl MONDO:0016599 biolink:NamedThing autosomal dominant secondary polycythemia Autosomal dominant form of secondary polycythemia. phenio_relaxed_subqs.owl MONDO:0017629 biolink:NamedThing sodium channelopathy-related small fiber neuropathy phenio_relaxed_subqs.owl MONDO:0017829 biolink:NamedThing autosomal dominant proximal renal tubular acidosis Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. phenio_relaxed_subqs.owl MONDO:0017846 biolink:NamedThing autosomal dominant spastic ataxia Autosomal dominant form of spastic ataxia. phenio_relaxed_subqs.owl MONDO:0018094 biolink:NamedThing Waardenburg syndrome Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes. phenio_relaxed_subqs.owl MONDO:0019548 biolink:NamedThing autosomal dominant intermediate Charcot-Marie-Tooth disease Autosomal dominant form of intermediate Charcot-Marie-Tooth disease. phenio_relaxed_subqs.owl MONDO:0019571 biolink:NamedThing autosomal dominant cutis laxa Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement. phenio_relaxed_subqs.owl MONDO:0019587 biolink:NamedThing autosomal dominant nonsyndromic hearing loss Autosomal dominant form of nonsyndromic deafness. phenio_relaxed_subqs.owl MONDO:0020093 biolink:NamedThing autosomal dominant isolated diffuse palmoplantar keratoderma Autosomal dominant form of isolated diffuse palmoplantar keratoderma. phenio_relaxed_subqs.owl MONDO:0020336 biolink:NamedThing autosomal dominant Emery-Dreifuss muscular dystrophy Autosomal dominant form of Emery-Dreifuss muscular dystrophy. phenio_relaxed_subqs.owl MONDO:0020380 biolink:NamedThing autosomal dominant cerebellar ataxia Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy. phenio_relaxed_subqs.owl MONDO:0020645 biolink:NamedThing autosomal dominant osteopetrosis Autosomal dominant form of osteopetrosis (disease). phenio_relaxed_subqs.owl MONDO:0020702 biolink:NamedThing autosomal dominant epidermolytic ichthyosis phenio_relaxed_subqs.owl MONDO:0020745 biolink:NamedThing ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome phenio_relaxed_subqs.owl MONDO:0020820 biolink:NamedThing distal arthrogryposis type 2B1 phenio_relaxed_subqs.owl MONDO:0022672 biolink:NamedThing autosomal dominant cataract A syndromic cataract that has autosomal dominant inheritance. phenio_relaxed_subqs.owl MONDO:0023243 biolink:NamedThing glass-chapman-hockley syndrome The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandmother were also found to have the syndrome. The signs and symptoms varied from person to person; however, the signs and symptoms included coronal craniosynostosis, small middle part of the face (midfacial hypoplasia), and short fingers (brachydactyly).The inheritance is thought to be autosomal dominant. No genes have been identified for this syndrome. Treatment included surgery to correct the craniosynostosis. No issues with development and normal intelligence were reported. This is an n-of-1 use case where only one patient or family has been described with this disorder. phenio_relaxed_subqs.owl MONDO:0032750 biolink:NamedThing arthrogryposis, distal, type 2B2 phenio_relaxed_subqs.owl MONDO:0032751 biolink:NamedThing arthrogryposis, distal, type 2B3 phenio_relaxed_subqs.owl MONDO:0054833 biolink:NamedThing charcot-marie-tooth disease, axonal, type 2DD phenio_relaxed_subqs.owl MONDO:0060568 biolink:NamedThing Pilarowski-Bjornsson syndrome phenio_relaxed_subqs.owl MONDO:0100172 biolink:NamedThing intellectual disability, autosomal dominant phenio_relaxed_subqs.owl MONDO:0100230 biolink:NamedThing fatty acyl-CoA reductase 1 dysregulation A disorder of plasmalogens biosynthesis, that is an autosomal dominant neurological disorder that results in uncontrolled synthesis of ether lipids. phenio_relaxed_subqs.owl MONDO:0100441 biolink:NamedThing GUCY2D-related dominant retinopathy A retinopathy caused by a heterozygous gain of function or dominant-negative variant or in the GUCY2D gene. phenio_relaxed_subqs.owl MONDO:0100452 biolink:NamedThing RPE65-related dominant retinopathy A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene. phenio_relaxed_subqs.owl OBO:SCTID_11164009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265388 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050737 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000133 biolink:NamedThing immunodeficiency-centromeric instability-facial anomalies syndrome The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9. phenio_relaxed_subqs.owl MONDO:0000463 biolink:NamedThing Ochoa syndrome Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression. phenio_relaxed_subqs.owl MONDO:0002014 biolink:NamedThing autosomal recessive Ehlers-Danlos syndrome, vascular type The rare autosomal recessive form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported. phenio_relaxed_subqs.owl MONDO:0006037 biolink:NamedThing hydrolethalus syndrome Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. phenio_relaxed_subqs.owl MONDO:0007477 biolink:NamedThing 3-M syndrome 3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence. phenio_relaxed_subqs.owl MONDO:0007747 biolink:NamedThing isolated hyperchlorhidrosis phenio_relaxed_subqs.owl MONDO:0008158 biolink:NamedThing dacryocystitis-osteopoikilosis syndrome Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedr adiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter). phenio_relaxed_subqs.owl MONDO:0008406 biolink:NamedThing autosomal recessive Emery-Dreifuss muscular dystrophy Autosomal recessive form of Emery-Dreifuss muscular dystrophy. phenio_relaxed_subqs.owl MONDO:0008699 biolink:NamedThing achalasia microcephaly syndrome Achalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. An autosomal recessive inheritance has been proposed. phenio_relaxed_subqs.owl MONDO:0008719 biolink:NamedThing acrorenal syndrome, autosomal recessive Autosomal recessive form of acrorenal syndrome. phenio_relaxed_subqs.owl MONDO:0008760 biolink:NamedThing beta-ketothiolase deficiency Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence. phenio_relaxed_subqs.owl MONDO:0008762 biolink:NamedThing autosomal recessive Alport syndrome Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed. phenio_relaxed_subqs.owl MONDO:0008763 biolink:NamedThing Alstrom syndrome A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction. phenio_relaxed_subqs.owl MONDO:0008800 biolink:NamedThing microphthalmia with limb anomalies Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly. phenio_relaxed_subqs.owl MONDO:0008866 biolink:NamedThing bifid nose, autosomal recessive Autosomal recessive form of bifid nose. phenio_relaxed_subqs.owl MONDO:0008879 biolink:NamedThing Bowen-Conradi syndrome Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet. phenio_relaxed_subqs.owl MONDO:0008900 biolink:NamedThing camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972. phenio_relaxed_subqs.owl MONDO:0008917 biolink:NamedThing heart defects-limb shortening syndrome Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome. phenio_relaxed_subqs.owl MONDO:0009035 biolink:NamedThing craniometaphyseal dysplasia, autosomal recessive Autosomal recessive form of craniometaphyseal dysplasia. phenio_relaxed_subqs.owl MONDO:0009097 biolink:NamedThing persistent hyperplastic primary vitreous, autosomal recessive Autosomal recessive form of persistent hyperplastic primary vitreous. phenio_relaxed_subqs.owl MONDO:0009104 biolink:NamedThing Donnai-Barrow syndrome Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common. phenio_relaxed_subqs.owl MONDO:0009209 biolink:NamedThing autosomal recessive faciodigitogenital syndrome Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum. phenio_relaxed_subqs.owl MONDO:0009231 biolink:NamedThing acromesomelic dysplasia 2B phenio_relaxed_subqs.owl MONDO:0009279 biolink:NamedThing triple-A syndrome Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration. phenio_relaxed_subqs.owl MONDO:0009356 biolink:NamedThing autosomal recessive humeroradial synostosis Autosomal recessive form of humeroradial synostosis (disease). phenio_relaxed_subqs.owl MONDO:0009359 biolink:NamedThing multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome phenio_relaxed_subqs.owl MONDO:0009360 biolink:NamedThing hydrocephalus, nonsyndromic, autosomal recessive 1 Any congenital hydrocephalus in which the cause of the disease is a mutation in the CCDC88C gene. phenio_relaxed_subqs.owl MONDO:0009361 biolink:NamedThing autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius phenio_relaxed_subqs.owl MONDO:0009426 biolink:NamedThing hypoparathyroidism-retardation-dysmorphism syndrome Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features. phenio_relaxed_subqs.owl MONDO:0009452 biolink:NamedThing Vici syndrome A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. phenio_relaxed_subqs.owl MONDO:0009465 biolink:NamedThing multiple intestinal atresia A rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns. phenio_relaxed_subqs.owl MONDO:0009527 biolink:NamedThing lipase deficiency, combined A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders. phenio_relaxed_subqs.owl MONDO:0009626 biolink:NamedThing pseudo-TORCH syndrome Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent. phenio_relaxed_subqs.owl MONDO:0009627 biolink:NamedThing Galloway-Mowat syndrome Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies. phenio_relaxed_subqs.owl MONDO:0009715 biolink:NamedThing myotonia congenita, autosomal recessive Autosomal recessive form of myotonia congenita. phenio_relaxed_subqs.owl MONDO:0009726 biolink:NamedThing proteosome-associated autoinflammatory syndrome phenio_relaxed_subqs.owl MONDO:0009735 biolink:NamedThing Netherton syndrome Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations. phenio_relaxed_subqs.owl MONDO:0009768 biolink:NamedThing oculodentodigital dysplasia, autosomal recessive Autosomal recessive form of oculodentodigital dysplasia. phenio_relaxed_subqs.owl MONDO:0009779 biolink:NamedThing autosomal recessive omodysplasia Autosomal recessive form of omodysplasia. phenio_relaxed_subqs.owl MONDO:0009820 biolink:NamedThing osteoporosis-pseudoglioma syndrome Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures. phenio_relaxed_subqs.owl MONDO:0009872 biolink:NamedThing Bjornstad syndrome Bjrnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Less than fifty cases have been reported so far. The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life. Bjrnstad syndrome is transmitted as an autosomal recessive condition. It is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome. phenio_relaxed_subqs.owl MONDO:0009877 biolink:NamedThing Laron syndrome Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration. phenio_relaxed_subqs.owl MONDO:0009955 biolink:NamedThing rapadilino syndrome RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence. phenio_relaxed_subqs.owl MONDO:0010058 biolink:NamedThing scapuloperoneal spinal muscular atrophy, autosomal recessive phenio_relaxed_subqs.owl MONDO:0010072 biolink:NamedThing spondyloepiphyseal dysplasia tarda, autosomal recessive Autosomal recessive form of spondyloepiphyseal dysplasia tarda. phenio_relaxed_subqs.owl MONDO:0010134 biolink:NamedThing Pendred syndrome Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter. phenio_relaxed_subqs.owl MONDO:0010180 biolink:NamedThing autosomal recessive spondylocostal dysostosis Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine. phenio_relaxed_subqs.owl MONDO:0010895 biolink:NamedThing ABCD syndrome An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB). phenio_relaxed_subqs.owl MONDO:0011054 biolink:NamedThing autosomal recessive amelia Autosomal recessive amelia is characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents. phenio_relaxed_subqs.owl MONDO:0011099 biolink:NamedThing human HOXA1 syndromes Human HOXA1 syndromes is characterised by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive. phenio_relaxed_subqs.owl MONDO:0011422 biolink:NamedThing autosomal recessive proximal renal tubular acidosis Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features. phenio_relaxed_subqs.owl MONDO:0011528 biolink:NamedThing hyper-IgM syndrome type 2 A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers. phenio_relaxed_subqs.owl MONDO:0011533 biolink:NamedThing temtamy preaxial brachydactyly syndrome An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene. phenio_relaxed_subqs.owl MONDO:0011551 biolink:NamedThing TH-deficient dopa-responsive dystonia Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy. phenio_relaxed_subqs.owl MONDO:0011679 biolink:NamedThing craniosynostosis syndrome, autosomal recessive Autosomal recessive form of craniosynostosis. phenio_relaxed_subqs.owl MONDO:0011978 biolink:NamedThing CoQ-responsive OXPHOS deficiency phenio_relaxed_subqs.owl MONDO:0012184 biolink:NamedThing Pierson syndrome Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria. phenio_relaxed_subqs.owl MONDO:0012557 biolink:NamedThing cardiomyopathy-hypotonia-lactic acidosis syndrome Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter. phenio_relaxed_subqs.owl MONDO:0012984 biolink:NamedThing PHARC syndrome Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life. phenio_relaxed_subqs.owl MONDO:0012991 biolink:NamedThing Kahrizi syndrome An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene. phenio_relaxed_subqs.owl MONDO:0013170 biolink:NamedThing cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13 phenio_relaxed_subqs.owl MONDO:0013519 biolink:NamedThing dyskeratosis congenita, autosomal recessive 2 A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3. phenio_relaxed_subqs.owl MONDO:0013520 biolink:NamedThing dyskeratosis congenita, autosomal recessive 3 A dyskeratosis congenita that has material basis in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1. phenio_relaxed_subqs.owl MONDO:0013523 biolink:NamedThing Nestor-Guillermo progeria syndrome phenio_relaxed_subqs.owl MONDO:0013803 biolink:NamedThing leukoencephalopathy with calcifications and cysts phenio_relaxed_subqs.owl MONDO:0013877 biolink:NamedThing mitochondrial pyruvate carrier deficiency An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation. phenio_relaxed_subqs.owl MONDO:0013970 biolink:NamedThing branched-chain keto acid dehydrogenase kinase deficiency Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency is a rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids. phenio_relaxed_subqs.owl MONDO:0014076 biolink:NamedThing dyskeratosis congenita, autosomal recessive 5 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33. phenio_relaxed_subqs.owl MONDO:0014219 biolink:NamedThing alacrima, achalasia, and intellectual disability syndrome phenio_relaxed_subqs.owl MONDO:0014412 biolink:NamedThing hyperlipoproteinemia, type 1D Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene. phenio_relaxed_subqs.owl MONDO:0014516 biolink:NamedThing microcephaly and chorioretinopathy 2 Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the PLK4 gene. phenio_relaxed_subqs.owl MONDO:0014614 biolink:NamedThing congenital stationary night blindness 1G A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21. phenio_relaxed_subqs.owl MONDO:0014864 biolink:NamedThing hypermanganesemia with dystonia 2 Any hypermanganesemia with dystonia in which the cause of the disease is a mutation in the SLC39A14 gene. phenio_relaxed_subqs.owl MONDO:0014911 biolink:NamedThing growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss. phenio_relaxed_subqs.owl MONDO:0014953 biolink:NamedThing gnb5-related intellectual disability-cardiac arrhythmia syndrome phenio_relaxed_subqs.owl MONDO:0015089 biolink:NamedThing autosomal recessive complex spastic paraplegia Autosomal recessive form of complex hereditary spastic paraplegia. phenio_relaxed_subqs.owl MONDO:0015090 biolink:NamedThing autosomal recessive pure spastic paraplegia Autosomal recessive form of pure hereditary spastic paraplegia. phenio_relaxed_subqs.owl MONDO:0015152 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy Autosomal recessive form of limb-girdle muscular dystrophy. phenio_relaxed_subqs.owl MONDO:0015229 biolink:NamedThing Bardet-Biedl syndrome A ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems phenio_relaxed_subqs.owl MONDO:0015244 biolink:NamedThing autosomal recessive cerebellar ataxia Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years. phenio_relaxed_subqs.owl MONDO:0015361 biolink:NamedThing autosomal recessive hereditary demyelinating motor and sensory neuropathy phenio_relaxed_subqs.owl MONDO:0015363 biolink:NamedThing autosomal recessive distal hereditary motor neuropathy Autosomal recessive form of distal hereditary motor neuropathy. phenio_relaxed_subqs.owl MONDO:0015705 biolink:NamedThing autosomal recessive centronuclear myopathy Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. phenio_relaxed_subqs.owl MONDO:0016002 biolink:NamedThing Ehlers-Danlos syndrome, kyphoscoliotic type 1 A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility. phenio_relaxed_subqs.owl MONDO:0016109 biolink:NamedThing autosomal recessive distal myopathy Autosomal recessive form of distal myopathy. phenio_relaxed_subqs.owl MONDO:0016543 biolink:NamedThing hyperphenylalaninemia due to tetrahydrobiopterin deficiency Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine. phenio_relaxed_subqs.owl MONDO:0016545 biolink:NamedThing leukoencephalopathy-palmoplantar keratoderma syndrome Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. phenio_relaxed_subqs.owl MONDO:0016619 biolink:NamedThing autosomal recessive hypohidrotic ectodermal dysplasia A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations. phenio_relaxed_subqs.owl MONDO:0016649 biolink:NamedThing Warburg micro syndrome Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism. phenio_relaxed_subqs.owl MONDO:0016660 biolink:NamedThing autosomal recessive primary microcephaly Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. phenio_relaxed_subqs.owl MONDO:0016810 biolink:NamedThing autosomal recessive progressive external ophthalmoplegia Autosomal recessive form of progressive external ophthalmoplegia. phenio_relaxed_subqs.owl MONDO:0016817 biolink:NamedThing Meier-Gorlin syndrome Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure). phenio_relaxed_subqs.owl MONDO:0016828 biolink:NamedThing autosomal recessive sideroblastic anemia Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin. phenio_relaxed_subqs.owl MONDO:0017058 biolink:NamedThing autosomal recessive intermediate Charcot-Marie-Tooth disease Autosomal recessive form of intermediate Charcot-Marie-Tooth disease. phenio_relaxed_subqs.owl MONDO:0017265 biolink:NamedThing autosomal recessive congenital ichthyosis Autosomal recessive form of inherited ichthyosis. phenio_relaxed_subqs.owl MONDO:0017312 biolink:NamedThing Perrault syndrome Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit. phenio_relaxed_subqs.owl MONDO:0017324 biolink:NamedThing autosomal recessive hypophosphatemic rickets Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth. phenio_relaxed_subqs.owl MONDO:0017569 biolink:NamedThing de Barsy syndrome A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract. phenio_relaxed_subqs.owl MONDO:0017570 biolink:NamedThing leukocyte adhesion deficiency Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections. phenio_relaxed_subqs.owl MONDO:0017842 biolink:NamedThing Senior-Loken syndrome Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy. phenio_relaxed_subqs.owl MONDO:0017847 biolink:NamedThing autosomal recessive spastic ataxia Autosomal recessive form of spastic ataxia. phenio_relaxed_subqs.owl MONDO:0018218 biolink:NamedThing autosomal recessive cerebral atrophy phenio_relaxed_subqs.owl MONDO:0018440 biolink:NamedThing autosomal recessive distal renal tubular acidosis Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed. phenio_relaxed_subqs.owl MONDO:0018662 biolink:NamedThing autosomal recessive brachyolmia Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur. phenio_relaxed_subqs.owl MONDO:0018964 biolink:NamedThing homocystinuria without methylmalonic aciduria Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1). phenio_relaxed_subqs.owl MONDO:0019005 biolink:NamedThing nephronophthisis Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure. phenio_relaxed_subqs.owl MONDO:0019026 biolink:NamedThing autosomal recessive osteopetrosis An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration. phenio_relaxed_subqs.owl MONDO:0019501 biolink:NamedThing Usher syndrome A syndromic diseae characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss. phenio_relaxed_subqs.owl MONDO:0019502 biolink:NamedThing autosomal recessive non-syndromic intellectual disability Autosomal recessive form of non-syndromic intellectual disability. phenio_relaxed_subqs.owl MONDO:0019572 biolink:NamedThing autosomal recessive cutis laxa type 1 Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli). phenio_relaxed_subqs.owl MONDO:0019573 biolink:NamedThing autosomal recessive cutis laxa type 2 Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, DebrC) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS). phenio_relaxed_subqs.owl MONDO:0019588 biolink:NamedThing hearing loss, autosomal recessive Autosomal recessive form of nonsyndromic deafness. phenio_relaxed_subqs.owl MONDO:0019601 biolink:NamedThing autosomal recessive axonal hereditary motor and sensory neuropathy Autosomal recessive form of axonal hereditary motor and sensory neuropathy. phenio_relaxed_subqs.owl MONDO:0020096 biolink:NamedThing autosomal recessive isolated diffuse palmoplantar keratoderma Autosomal recessive form of isolated diffuse palmoplantar keratoderma. phenio_relaxed_subqs.owl MONDO:0020628 biolink:NamedThing microcephaly, growth restriction, and increased sister chromatid exchange 2 phenio_relaxed_subqs.owl MONDO:0020781 biolink:NamedThing encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 phenio_relaxed_subqs.owl MONDO:0020831 biolink:NamedThing congenital vertebral-cardiac-renal anomalies syndrome phenio_relaxed_subqs.owl MONDO:0022316 biolink:NamedThing hair defect with photosensitivity and intellectual disability syndrome Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents. phenio_relaxed_subqs.owl MONDO:0028226 biolink:NamedThing autosomal recessive severe congenital neutropenia phenio_relaxed_subqs.owl MONDO:0032724 biolink:NamedThing spondyloepimetaphyseal dysplasia with joint laxity, type 3 phenio_relaxed_subqs.owl MONDO:0033187 biolink:NamedThing combined oxidative phosphorylation defect type 29 phenio_relaxed_subqs.owl MONDO:0033672 biolink:NamedThing Duane anomaly-myopathy-scoliosis syndrome Duane anomaly-myopathy-scoliosis syndrome is characterised by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap. phenio_relaxed_subqs.owl MONDO:0034092 biolink:NamedThing optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome phenio_relaxed_subqs.owl MONDO:0034109 biolink:NamedThing congenital myopathy with reduced type 2 muscle fibers phenio_relaxed_subqs.owl MONDO:0034186 biolink:NamedThing autosomal recessive extra-oral halitosis phenio_relaxed_subqs.owl MONDO:0040653 biolink:NamedThing autosomal recessive ocular albinism Autosomal recessive form of ocular albinism (disease). phenio_relaxed_subqs.owl MONDO:0043106 biolink:NamedThing ichthyosis linearis circumflexa phenio_relaxed_subqs.owl MONDO:0043364 biolink:NamedThing eosinophil peroxidase deficiency A rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix. phenio_relaxed_subqs.owl MONDO:0044304 biolink:NamedThing hyperphenylalaninemia due to DNAJC12 deficiency Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017}). phenio_relaxed_subqs.owl MONDO:0060556 biolink:NamedThing joint laxity, short stature, and myopia phenio_relaxed_subqs.owl MONDO:0060564 biolink:NamedThing HELIX syndrome phenio_relaxed_subqs.owl MONDO:0060582 biolink:NamedThing auditory neuropathy-optic atrophy syndrome phenio_relaxed_subqs.owl MONDO:0100095 biolink:NamedThing neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures Autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene. phenio_relaxed_subqs.owl MONDO:0100121 biolink:NamedThing SCN4A-related myopathy, autosomal recessive Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy. phenio_relaxed_subqs.owl MONDO:0100144 biolink:NamedThing Uner Tan Syndrome A tubulinopathy with material basis in TUBB2B that is characterized by variations in R390Q, quadrupedal locomotion, cerebellar hypoplasia and does not have basal ganglia malformations. phenio_relaxed_subqs.owl MONDO:0100156 biolink:NamedThing Imerslund-Grasbeck syndrome type 1 An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances. phenio_relaxed_subqs.owl MONDO:0100157 biolink:NamedThing Imerslund-Grasbeck syndrome type 2 An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF). phenio_relaxed_subqs.owl MONDO:0100165 biolink:NamedThing permanent neonatal diabetes mellitus 1 A rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well. phenio_relaxed_subqs.owl MONDO:0100211 biolink:NamedThing growth hormone insensitivity with immune dysregulation 1, autosomal recessive phenio_relaxed_subqs.owl MONDO:0100215 biolink:NamedThing Rajab interstitial lung disease with brain calcifications 1 phenio_relaxed_subqs.owl MONDO:0100368 biolink:NamedThing RPE65-related recessive retinopathy A retinopathy, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene. phenio_relaxed_subqs.owl MONDO:0100453 biolink:NamedThing GUCY2D-related recessive retinopathy A retinopathy caused by biallelic variants in the GUCY2D gene. phenio_relaxed_subqs.owl OBO:SCTID_85995004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000017 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265418 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0700015 biolink:NamedThing chromosome 8 disorder Chromosomal disorder in which chromosome 8 is affected. phenio_relaxed_subqs.owl MONDO:0016873 biolink:NamedThing partial deletion of chromosome 8 phenio_relaxed_subqs.owl MONDO:0016929 biolink:NamedThing partial duplication of chromosome 8 phenio_relaxed_subqs.owl MONDO:0019876 biolink:NamedThing 8p inverted duplication/deletion syndrome 8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum. phenio_relaxed_subqs.owl MONDO:0043452 biolink:NamedThing chromosome 8, trisomy A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells. phenio_relaxed_subqs.owl MONDO:0700035 biolink:NamedThing monosomy chromosome 8 A chromosomal disorder consisting of the absence of one chromosome 8. phenio_relaxed_subqs.owl OBO:SCTID_48082007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265428 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016526 biolink:NamedThing trisomy 9p Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations. phenio_relaxed_subqs.owl OBO:GARD_0005364 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:236 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:262767 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265449 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011146 biolink:NamedThing tetrasomy 12p Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p. phenio_relaxed_subqs.owl OBO:GARD_0008421 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538105 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C75458 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601803 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_9527009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:884 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265479 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0022757 biolink:NamedThing chromosome 20 trisomy Chromosome 20 trisomy, (also called trisomy 20) is a condition in which a fetus or individual has an extra full or partial copy of chromosome 20 in some or allof of his/her cells. An extra full copy of chromosome 20 in all of a person's cells is rare, and almost all fetuses with this do not survive past the first trimester ofpregnancy. The presence of an extra copyof only part of chromosome 20 is called partial trisomy 20; and an extra copy of chromosome 20 in only some of a person's cells is called mosaic trisomy 20. Mosaic trisomy 20 is the most common type of chromosome 20 trisomy and is one of the more common chromosomal abnormalities found during prenatal diagnostic testing. Studies have shown that the child is normal in the vast majority of prenatally diagnosed individuals. However, features that have been reported include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia (decreased muscle tone), life long constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops (before fertilization); mosaic trisomy 20 usually results from errors in cell division soon after fertilization. phenio_relaxed_subqs.owl OBO:GARD_0005332 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535372 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015764 biolink:NamedThing mosaic trisomy 20 Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported. phenio_relaxed_subqs.owl NCIT:C36397 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265490 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0022759 biolink:NamedThing trisomy 22 Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia)with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR). phenio_relaxed_subqs.owl OBO:GARD_0005335 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536799 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019869 biolink:NamedThing mosaic trisomy 22 Mosaic trisomy 22 isa chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder can vary widely. Some of the features that have been associated with this conditioninclude growth delays,cognitive deficiencies, unequal developmentof the two sides of the body (hemidystrophy), webbing of the neck, abnormal deviation of the elbows when extended (cubitus valgus), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities. A number of cases of children with mosaic trisomy 22 and normal growth and development have also been described. phenio_relaxed_subqs.owl OBO:SCTID_205655003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265493 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000026 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535918 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C75477 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:115470 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_26445008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:195 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265496 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019525 biolink:NamedThing tetrasomy X Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). phenio_relaxed_subqs.owl OBO:GARD_0007754 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536502 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_10567003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:9 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265497 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005678 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535319 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C89802 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_43248007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:11 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265498 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019928 biolink:NamedThing 48,XXXY syndrome The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males. phenio_relaxed_subqs.owl OBO:GARD_0005676 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C89799 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_78317008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:96263 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265499 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019929 biolink:NamedThing 49,XXXXY syndrome The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males. phenio_relaxed_subqs.owl OBO:GARD_0005679 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_38847009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:96264 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265505 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0022991 biolink:NamedThing diploid-triploid mosaicism Diploid-triploid mosaicism is a chromosome disorder. Individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes (called triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells). Having two or more different cell types is called mosaicism. Diploid-triploid mosaicism can be associated withtruncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth,mild differences infacial features, fusion or webbing between some of the fingers and/or toes (syndactyly) and irregularities in the skin pigmentation. Intellectual disabilities may be present but are highly variable from person to person ranging from mild to more severe. The chromosome disorder is usually not present in the blood; a skin biopsy, or analyzing cells in the urine is needed to detect the triploid cells. phenio_relaxed_subqs.owl OBO:GARD_0010715 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C548012 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_10177005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265756 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007879 biolink:NamedThing larynx atresia A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation. phenio_relaxed_subqs.owl OBO:GARD_0003192 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003194 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563637 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C98972 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:150300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_64981002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1202 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265761 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016530 biolink:NamedThing laryngocele A rare congenital malformation in the larynx. It is characterized by the presence of an air-filled sac within the laryngeal wall which may bulge on the neck. phenio_relaxed_subqs.owl OBO:GARD_0003191 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_Q31.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D059608 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C97062 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_51523009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2372 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265961 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017851 biolink:NamedThing erythrokeratodermia variabilis A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema. Mutations in GJB3 and GJB4 genes have been identified as causative agents. phenio_relaxed_subqs.owl DOID:0050467 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003096 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536154 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D056266 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018853 biolink:NamedThing transgrediens et progrediens palmoplantar keratoderma phenio_relaxed_subqs.owl MONDO:0030941 biolink:NamedThing erythrokeratodermia variabilis et progressiva 7 phenio_relaxed_subqs.owl MONDO:0032801 biolink:NamedThing erythrokeratodermia variabilis et progressiva 6 phenio_relaxed_subqs.owl MONDO:0033010 biolink:NamedThing erythrokeratodermia variabilis et progressiva 1 phenio_relaxed_subqs.owl MONDO:0033012 biolink:NamedThing erythrokeratodermia variabilis et progressiva 2 phenio_relaxed_subqs.owl MONDO:0033013 biolink:NamedThing erythrokeratodermia variabilis et progressiva 3 phenio_relaxed_subqs.owl MONDO:0033014 biolink:NamedThing erythrokeratodermia variabilis et progressiva 4 phenio_relaxed_subqs.owl MONDO:0033015 biolink:NamedThing erythrokeratodermia variabilis et progressiva 5 phenio_relaxed_subqs.owl NCIT:C84696 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_133200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_70041004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:316 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:317 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265965 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2729 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010905 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D019871 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007485 biolink:NamedThing dyskeratosis congenita, autosomal dominant 1 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2. phenio_relaxed_subqs.owl MONDO:0009136 biolink:NamedThing dyskeratosis congenita, autosomal recessive 1 A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14. phenio_relaxed_subqs.owl MONDO:0009990 biolink:NamedThing Revesz syndrome Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. phenio_relaxed_subqs.owl MONDO:0010584 biolink:NamedThing dyskeratosis congenita, X-linked X-linked form of dyskeratosis congenita. phenio_relaxed_subqs.owl MONDO:0014600 biolink:NamedThing dyskeratosis congenita, autosomal recessive 6 Any dyskeratosis congenita in which the cause of the disease is a mutation in the PARN gene. phenio_relaxed_subqs.owl MONDO:0027353 biolink:NamedThing autosomal recessive dyskeratosis congenita 4 A dyskeratosis congenita that has material basis in an autosomal recessive mutation of TERT on chromosome 5p15.33. phenio_relaxed_subqs.owl MONDO:0100152 biolink:NamedThing DKC1-related disorder Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene. phenio_relaxed_subqs.owl NCIT:C111802 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_127550 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_74911008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1775 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265966 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007486 biolink:NamedThing hereditary benign intraepithelial dyskeratosis A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported. phenio_relaxed_subqs.owl OBO:MESH_C562551 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3940 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:127600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_400014002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:352657 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0265971 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007048 biolink:NamedThing acrokeratosis verruciformis A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows. phenio_relaxed_subqs.owl DOID:0050606 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27519 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:101900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_400085009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000666 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79151 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0266006 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050677 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000022 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537633 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:262000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0002779 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:123 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0266039 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005119 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536946 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:272700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_51744007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3289 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0266427 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:8000017 biolink:NamedThing testicular regression syndrome A developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development. phenio_relaxed_subqs.owl OBO:SCTID_53599007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:983 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0266490 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015392 biolink:NamedThing nasal glial heterotopia Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported. phenio_relaxed_subqs.owl OBO:SCTID_5645008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:141112 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0266725 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_31248004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:141077 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0266929 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:260950 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_74797001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0266999 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D054243 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_36921006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0267073 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020418 biolink:NamedThing dysphagia lusoria phenio_relaxed_subqs.owl OBO:SCTID_231719009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99082 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0267841 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006633 biolink:NamedThing acalculous cholecystitis Inflammation of the gallbladder in the absence of gallstones. phenio_relaxed_subqs.owl UMLS:C0267842 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2828 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D042101 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35578 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_19968009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000790 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0267878 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010177 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D057792 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_4283007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001860 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:521219 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0267917 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14271 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35334 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_6215006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0267918 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9439 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35335 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_71912000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0267924 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14269 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35336 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_69850007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0267937 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018989 biolink:NamedThing recurrent acute pancreatitis Recurrent acute pancreatitis (RAP) is characterized by repeated attacks of acute pancreatitis (AP), which is defined as an acute inflammatory process of the pancreas with variable involvement of other regional tissues or remote organ systems. phenio_relaxed_subqs.owl OBO:SCTID_197458008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:64740 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0267963 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001684 biolink:NamedThing exocrine pancreatic insufficiency Inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. Patients present with symptoms of malabsorption syndrome, abdominal discomfort, and bloating. Causes include chronic pancreatitis, cystic fibrosis, and autoimmune disorders. phenio_relaxed_subqs.owl DOID:13316 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_K86.81 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010188 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012992 biolink:NamedThing pancreatic insufficiency-anemia-hyperostosis syndrome This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. phenio_relaxed_subqs.owl NCIT:C84316 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_47367009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268059 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009275 biolink:NamedThing neonatal hemochromatosis Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4 phenio_relaxed_subqs.owl OBO:GARD_0007172 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536394 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129980 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:231100 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:446 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268080 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020739 biolink:NamedThing hypercalcemia, infantile, 1 phenio_relaxed_subqs.owl OMIM:143880 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268095 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050083 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008761 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536166 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_46939000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268104 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_32612005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268117 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010299 biolink:NamedThing hypoxanthine guanine phosphoribosyltransferase partial deficiency Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout. phenio_relaxed_subqs.owl OBO:MESH_C562583 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300323 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238007004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79233 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268120 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013869 biolink:NamedThing adenine phosphoribosyltransferase deficiency Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy. phenio_relaxed_subqs.owl DOID:0060350 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000546 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010666 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538228 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C121564 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614723 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_124274002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:976 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268125 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013171 biolink:NamedThing purine nucleoside phosphorylase deficiency Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations. phenio_relaxed_subqs.owl DOID:5813 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004606 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562587 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3963 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613179 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_60743005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:760 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268126 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050762 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000550 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538235 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:103050 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_15285008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:46 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268127 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_85444005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268135 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110843 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005624 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3965 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:278700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_43477006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:276249 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268136 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110850 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005625 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562590 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3966 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610651 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_1073003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:276252 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268141 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110849 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005629 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562593 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3969 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:278780 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_36454001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:276267 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268155 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14695 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002422 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C114767 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:230200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_124302001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79237 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268160 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009252 biolink:NamedThing essential fructosuria Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated. phenio_relaxed_subqs.owl DOID:0111680 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E74.11 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538068 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:229800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_40278002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2056 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268162 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009846 biolink:NamedThing pentosuria Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day. phenio_relaxed_subqs.owl DOID:0111258 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000418 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536652 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:260800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_190764000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2843 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268164 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111670 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002835 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536414 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C123212 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:259900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_65520001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93598 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268165 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111671 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002836 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536415 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C123213 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:260000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_40951006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93599 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268173 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_54905006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268187 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010372 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562603 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612119 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_84193000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:103909 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268193 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN043137 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003263 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:246900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_29914000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2394 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268194 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017320 biolink:NamedThing phosphoenolpyruvate carboxykinase deficiency Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder. phenio_relaxed_subqs.owl OBO:MESH_C536654 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009864 biolink:NamedThing phosphoenolpyruvate carboxykinase deficiency, mitochondrial phenio_relaxed_subqs.owl MONDO:0009866 biolink:NamedThing phosphoenolpyruvate carboxykinase deficiency, cytosolic PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2). phenio_relaxed_subqs.owl NCIT:C99015 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_5335002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2880 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268199 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008810 biolink:NamedThing familial apolipoprotein C-II deficiency phenio_relaxed_subqs.owl UMLS:C1720779 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111418 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:207750 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_33513003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309020 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268220 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856275 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565538 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:232900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_7810004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268225 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008830 biolink:NamedThing aspartylglucosaminuria Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis). phenio_relaxed_subqs.owl DOID:0050461 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005854 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D054880 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C61273 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:208400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_54954004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268229 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019681 biolink:NamedThing juvenile sialidosis type 2 phenio_relaxed_subqs.owl UMLS:CN206605 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111383007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93399 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268232 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009738 biolink:NamedThing sialidosis type 2 A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations. phenio_relaxed_subqs.owl UMLS:C3888317 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206285 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3343 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007183 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562606 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019682 biolink:NamedThing congenital sialidosis type 2 phenio_relaxed_subqs.owl NCIT:C125596 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:256150 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:256550 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_52186006 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_81896006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:87876 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268233 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009737 biolink:NamedThing galactosialidosis A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form. phenio_relaxed_subqs.owl DOID:0080540 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003953 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536411 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129928 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:256540 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_35691006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:351 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268237 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009068 biolink:NamedThing cytochrome-c oxidase deficiency disease A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis. phenio_relaxed_subqs.owl DOID:3762 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000048 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D030401 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C98910 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:220110 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_67434000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:254905 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268240 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013700 biolink:NamedThing pancreatic triacylglycerol lipase deficiency An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase. phenio_relaxed_subqs.owl MONDO:0017711 biolink:NamedThing pancreatic colipase deficiency phenio_relaxed_subqs.owl MONDO:0017712 biolink:NamedThing combined pancreatic lipase-colipase deficiency A disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990. phenio_relaxed_subqs.owl NCIT:C129030 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614338 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_78960005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309031 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268241 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_69478001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309108 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268242 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070111 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007206 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D052536 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126561 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:257200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_52165006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:77292 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268243 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070112 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010729 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E75.241 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D052537 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126866 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607616 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_39390005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:77293 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268255 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204335 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050464 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006426 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D055577 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84710 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:228000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_79935000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:333 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268262 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010674 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562609 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:249900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_68390005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268263 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050441 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005061 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D052517 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84908 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:272200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_54898003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:585 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268274 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3321 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002522 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E75.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020143 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010099 biolink:NamedThing Tay-Sachs disease AB variant GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency. phenio_relaxed_subqs.owl OBO:SCTID_33316007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309152 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268275 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4795 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D049290 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C133084 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:272750 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_71253000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309246 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268283 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015898 biolink:NamedThing adrenogenital syndrome Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children. phenio_relaxed_subqs.owl OBO:SCTID_28710006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268292 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005658 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535978 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131085 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:202010 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_124214007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90795 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268312 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070221 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008892 biolink:NamedThing progressive familial intrahepatic cholestasis type 1 PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features. phenio_relaxed_subqs.owl MONDO:0011156 biolink:NamedThing progressive familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome. phenio_relaxed_subqs.owl MONDO:0011214 biolink:NamedThing progressive familial intrahepatic cholestasis type 3 Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood. phenio_relaxed_subqs.owl MONDO:0011497 biolink:NamedThing hereditary North American Indian childhood cirrhosis Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence. phenio_relaxed_subqs.owl MONDO:0014381 biolink:NamedThing cholestasis, progressive familial intrahepatic, 4 Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene. phenio_relaxed_subqs.owl MONDO:0014884 biolink:NamedThing cholestasis, progressive familial intrahepatic, 5 Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene. phenio_relaxed_subqs.owl MONDO:0018804 biolink:NamedThing MYO5B-related progressive familial intrahepatic cholestasis phenio_relaxed_subqs.owl MONDO:0030360 biolink:NamedThing cholestasis, progressive familial intrahepatic, 6 phenio_relaxed_subqs.owl MONDO:0030503 biolink:NamedThing cholestasis, progressive familial intrahepatic, 7, with or without hearing loss phenio_relaxed_subqs.owl MONDO:0030505 biolink:NamedThing cholestasis, progressive familial intrahepatic, 8 phenio_relaxed_subqs.owl NCIT:C84453 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_211600 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:172 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268314 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008966 biolink:NamedThing Aagenaes syndrome Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life. phenio_relaxed_subqs.owl DOID:6691 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000370 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535330 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35709 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:214900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_28724005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1414 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268323 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:176100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_59229005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:443062 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268335 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14720 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536194 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C125696 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:130000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_83470009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90309 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268336 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536195 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C125697 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:130010 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90318 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268337 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14757 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002081 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536196 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C125698 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:130020 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_30652003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:285 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268340 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14759 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_70610001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268341 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536197 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C141423 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:305200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_67202007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:75497 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268342 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202461 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002083 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536198 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C125700 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:225400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718211004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1900 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268349 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003054 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535884 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:147900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_71322004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2295 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268350 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070142 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001639 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562627 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007411 biolink:NamedThing cutis laxa, autosomal dominant 1 Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the ELN gene. phenio_relaxed_subqs.owl MONDO:0013751 biolink:NamedThing cutis laxa, autosomal dominant 2 Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene. phenio_relaxed_subqs.owl MONDO:0014706 biolink:NamedThing cutis laxa, autosomal dominant 3 An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. phenio_relaxed_subqs.owl OBO:SCTID_111388003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90348 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268362 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009804 biolink:NamedThing osteogenesis imperfecta type 3 Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI). phenio_relaxed_subqs.owl DOID:0110339 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008695 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536044 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C99002 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:259420 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_385483009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:216812 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268363 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008148 biolink:NamedThing osteogenesis imperfecta type 4 Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI). phenio_relaxed_subqs.owl DOID:0110340 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008696 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536045 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C98576 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:166220 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_205497004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:216820 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268365 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003387 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C531742 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:154750 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268380 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017816 biolink:NamedThing primary systemic amyloidosis Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement. phenio_relaxed_subqs.owl UMLS:C0281479 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C8299 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_89449005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314701 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268381 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005797 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C531616 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017817 biolink:NamedThing primary localized amyloidosis Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin. phenio_relaxed_subqs.owl ORPHA:85443 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268389 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050636 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008282 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538249 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016533 biolink:NamedThing apolipoprotein A-II amyloidosis phenio_relaxed_subqs.owl MONDO:0019731 biolink:NamedThing AApoAI amyloidosis phenio_relaxed_subqs.owl MONDO:0019732 biolink:NamedThing ALys amyloidosis phenio_relaxed_subqs.owl MONDO:0019733 biolink:NamedThing AFib amyloidosis phenio_relaxed_subqs.owl OMIM:105200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_66451004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:85450 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268390 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1304205 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050854 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008472 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C119054 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:191900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_402417009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:575 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268397 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050639 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000132 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562642 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015302 biolink:NamedThing nodular cutaneous amyloidosis Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as SjC6grenBs syndrome and CREST syndrome. phenio_relaxed_subqs.owl MONDO:0015303 biolink:NamedThing macular amyloidosis Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis. phenio_relaxed_subqs.owl MONDO:0017906 biolink:NamedThing amyloidosis cutis dyschromia Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare. phenio_relaxed_subqs.owl MONDO:0018856 biolink:NamedThing lichen amyloidosis Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis. phenio_relaxed_subqs.owl OBO:SCTID_282834007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:137807 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268398 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024522 biolink:NamedThing amyloidosis, primary localized cutaneous, 1 Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene. phenio_relaxed_subqs.owl OMIM:105250 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268399 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562644 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:204900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_38606009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268410 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562645 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:200950 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_57863006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:35121 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268417 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614044 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_190953007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268419 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013571 biolink:NamedThing acatalasia A congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide. phenio_relaxed_subqs.owl DOID:2582 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000363 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020642 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84526 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614097 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_124202004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0004144 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:926 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268423 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562651 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:227150 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_64235006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268425 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050473 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005787 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D056769 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84549 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:203800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_63702009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:64 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268426 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008556 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535874 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:268500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_53783003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268444 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562654 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:241150 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_81987005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268445 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008225 biolink:NamedThing normokalemic periodic paralysis phenio_relaxed_subqs.owl OBO:GARD_0004009 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C122791 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:170600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_40381009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:680 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268446 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019201 biolink:NamedThing thyrotoxic periodic paralysis Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state. phenio_relaxed_subqs.owl OBO:GARD_0010814 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008570 biolink:NamedThing thyrotoxic periodic paralysis, susceptibility to, 1 Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the CACNA1S gene. phenio_relaxed_subqs.owl MONDO:0013193 biolink:NamedThing thyrotoxic periodic paralysis, susceptibility to, 2 Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the KCNJ18 gene. phenio_relaxed_subqs.owl MONDO:0013908 biolink:NamedThing thyrotoxic periodic paralysis, susceptibility to, 3 phenio_relaxed_subqs.owl OBO:OMIMPS_188580 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_30967002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79102 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268450 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050450 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008547 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D053579 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84730 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:263800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_707756004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:358 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268461 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_12957008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:284814 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268467 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0100186 biolink:NamedThing GTP cyclohydrolase I deficiency with hyperphenylalaninemia phenio_relaxed_subqs.owl OBO:GARD_0002844 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C141442 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:233910 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_23447005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2102 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268468 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012994 biolink:NamedThing dopa-responsive dystonia due to sepiapterin reductase deficiency Dopa responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development. phenio_relaxed_subqs.owl DOID:0111168 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010365 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562657 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612716 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_45116002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:70594 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268473 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004268 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562658 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:276100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_12045002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268474 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009372 biolink:NamedThing encephalopathy due to hydroxykynureninuria Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway. phenio_relaxed_subqs.owl OBO:GARD_0010039 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536081 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:236800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_72945002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79155 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268478 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008877 biolink:NamedThing blue diaper syndrome Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria. phenio_relaxed_subqs.owl OBO:GARD_0005939 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536239 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:211000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_59531002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:94086 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268479 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009702 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535329 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:236300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268483 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004741 biolink:NamedThing tyrosinemia An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs. phenio_relaxed_subqs.owl DOID:9275 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E70.21 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020176 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010160 biolink:NamedThing tyrosinemia type II Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit. phenio_relaxed_subqs.owl MONDO:0010161 biolink:NamedThing tyrosinemia type I Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone. phenio_relaxed_subqs.owl MONDO:0010162 biolink:NamedThing tyrosinemia type III Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate. phenio_relaxed_subqs.owl NCIT:C98640 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_276700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_190694001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268484 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562659 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:276800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_57414003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268490 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050726 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002658 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C98641 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:276700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_410056006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:882 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268495 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070096 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004038 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537730 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:203200 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79432 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268512 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_44176004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268514 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010167 biolink:NamedThing urocanic aciduria Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date. phenio_relaxed_subqs.owl OBO:GARD_0008539 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536479 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:276880 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_60952007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:210128 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268517 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019241 biolink:NamedThing inborn disorder of the gamma-glutamyl cycle phenio_relaxed_subqs.owl OBO:SCTID_9128006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79196 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268518 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_72262000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268524 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111257 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010099 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536836 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:231950 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_78586005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:33573 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268525 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005681 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535322 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:260005 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_26132002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:33572 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268528 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0023419 biolink:NamedThing hyperprolinemia Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern. phenio_relaxed_subqs.owl DOID:0080541 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002847 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009400 biolink:NamedThing hyperprolinemia type 1 Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2). phenio_relaxed_subqs.owl MONDO:0009401 biolink:NamedThing hyperprolinemia type 2 Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay. phenio_relaxed_subqs.owl OBO:SCTID_59655002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268531 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010717 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562669 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:237000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_25739007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268532 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008221 biolink:NamedThing prolidase deficiency Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly. phenio_relaxed_subqs.owl DOID:0111540 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007473 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D056732 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85029 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:170100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_410055005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:742 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268536 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562670 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:138070 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268540 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050720 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002830 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538380 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129029 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:238970 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_30287008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:415 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268542 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9271 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008391 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020163 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84957 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:311250 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_80908008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007409 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:664 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268547 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14755 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005843 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D056807 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84569 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:207900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_41013004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:23 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268548 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9278 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005840 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020162 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84568 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:207800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_23501004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268553 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009388 biolink:NamedThing hyperlysinemia Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present. phenio_relaxed_subqs.owl DOID:9274 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002828 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009389 biolink:NamedThing hyperlysinemia due to defect in lysine transport into mitochondria phenio_relaxed_subqs.owl NCIT:C123433 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:238700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_58558003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2203 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268555 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:238750 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_342553006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268556 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010005 biolink:NamedThing saccharopinuria Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria. phenio_relaxed_subqs.owl OBO:GARD_0000314 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537218 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:268700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111397004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3124 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268558 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010008 biolink:NamedThing sarcosinemia Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency. phenio_relaxed_subqs.owl MONDO:0011612 biolink:NamedThing glycine encephalopathy Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity. phenio_relaxed_subqs.owl OBO:SCTID_83076007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268563 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000158 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537236 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:268900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_64852002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3129 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268573 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007845 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536524 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:277100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_47719001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268574 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562674 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:238340 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_7046009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268575 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009475 biolink:NamedThing isovaleric acidemia Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported. phenio_relaxed_subqs.owl DOID:14753 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000465 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E71.110 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538167 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C98964 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:243500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_87827003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:33 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268579 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011628 biolink:NamedThing propionic acidemia Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy. phenio_relaxed_subqs.owl DOID:14701 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000467 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E71.121 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D056693 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85030 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606054 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_69080001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:35 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268581 biolink:NamedThing phenio_relaxed_subqs.owl DOID:859 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002721 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D028922 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C98842 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:253270 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_15307001 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_360369003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79242 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268583 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002012 biolink:NamedThing methylmalonic acidemia A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease. phenio_relaxed_subqs.owl UMLS:C1855119 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14749 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007033 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E71.120 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009612 biolink:NamedThing methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-. phenio_relaxed_subqs.owl MONDO:0009615 biolink:NamedThing methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic. phenio_relaxed_subqs.owl MONDO:0013341 biolink:NamedThing methylmalonic acidemia due to transcobalamin receptor defect Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported. phenio_relaxed_subqs.owl MONDO:0013661 biolink:NamedThing combined malonic and methylmalonic acidemia Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline. phenio_relaxed_subqs.owl MONDO:0016826 biolink:NamedThing methylmalonic aciduria and homocystinuria An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ). phenio_relaxed_subqs.owl MONDO:0017214 biolink:NamedThing vitamin B12-responsive methylmalonic acidemia Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2). phenio_relaxed_subqs.owl NCIT:C98986 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_42393006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268594 biolink:NamedThing phenio_relaxed_subqs.owl HP:0003150 biolink:NamedThing Glutaric aciduria (HPO) An increased concentration of glutaric acid in the urine. phenio_relaxed_subqs.owl HP:0003530 biolink:NamedThing Elevated circulating glutaric acid concentration (HPO) An increased concentration of glutaric acid in the blood. phenio_relaxed_subqs.owl MONDO:0009281 biolink:NamedThing glutaryl-CoA dehydrogenase deficiency Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder. phenio_relaxed_subqs.owl OBO:SCTID_28987007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268595 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111254 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006522 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536833 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C99101 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:231670 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_76175005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:25 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268596 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060358 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006523 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018332 biolink:NamedThing multiple acyl-CoA dehydrogenase deficiency, severe neonatal type phenio_relaxed_subqs.owl MONDO:0018333 biolink:NamedThing multiple acyl-CoA dehydrogenase deficiency, mild type phenio_relaxed_subqs.owl NCIT:C84907 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:231680 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:26791 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268600 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018950 biolink:NamedThing 3-methylcrotonyl-CoA carboxylase deficiency 3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults. phenio_relaxed_subqs.owl UMLS:CN239165 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050710 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010954 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008862 biolink:NamedThing 3-methylcrotonyl-CoA carboxylase 2 deficiency Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene. phenio_relaxed_subqs.owl NCIT:C98674 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_210200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_13144005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:6 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268601 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009520 biolink:NamedThing 3-hydroxy-3-methylglutaric aciduria 3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae. phenio_relaxed_subqs.owl UMLS:C1533587 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008387 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538324 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84523 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:246450 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_410059004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:20 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268603 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562678 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613933 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268609 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009240 biolink:NamedThing formiminoglutamic aciduria Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia. phenio_relaxed_subqs.owl DOID:0111679 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009279 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537425 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:229100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_59761008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:51208 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268611 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537426 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C99081 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_89579000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268622 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562682 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:250900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_45812003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268623 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050727 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010332 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:276710 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_415764005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:69723 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268626 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009066 biolink:NamedThing juvenile nephropathic cystinosis Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes. phenio_relaxed_subqs.owl OBO:MESH_C562683 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:219900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_22830006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009049 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:411634 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268630 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009378 biolink:NamedThing hyper-beta-alaninemia Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case. phenio_relaxed_subqs.owl OBO:GARD_0010267 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562684 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:237400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_2359002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309147 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268631 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010083 biolink:NamedThing succinic semialdehyde dehydrogenase deficiency Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation. phenio_relaxed_subqs.owl DOID:0060175 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007695 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535803 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:271980 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_49748000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:22 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268632 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009351 biolink:NamedThing homocarnosinosis Homocarnosinosis is a metabolic defect characterised by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant. phenio_relaxed_subqs.owl UMLS:C3495554 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060177 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002730 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535328 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008921 biolink:NamedThing carnosinemia Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency. phenio_relaxed_subqs.owl OMIM:236130 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_61764000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2168 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268635 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017714 biolink:NamedThing acyl-CoA dehydrogenase deficiency phenio_relaxed_subqs.owl MONDO:0018014 biolink:NamedThing transient neonatal multiple acyl-CoA dehydrogenase deficiency Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother. phenio_relaxed_subqs.owl OBO:SCTID_82319005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309120 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268641 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019216 biolink:NamedThing inborn disorder of amino acid absorption and transport phenio_relaxed_subqs.owl OBO:ICD9_270.0 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009108 biolink:NamedThing hyperdibasic aminoaciduria type 1 Hyperdibasic aminoaciduria, type 1 is characterised by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported. phenio_relaxed_subqs.owl MONDO:0009109 biolink:NamedThing lysinuric protein intolerance Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism. phenio_relaxed_subqs.owl MONDO:0009110 biolink:NamedThing dicarboxylic aminoaciduria Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit. phenio_relaxed_subqs.owl MONDO:0018189 biolink:NamedThing autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is a rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts. phenio_relaxed_subqs.owl OBO:SCTID_16784003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79166 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268642 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002708 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538321 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:235830 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2158 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268647 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060439 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001853 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003335 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562687 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C121563 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:222700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_303852004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:470 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268654 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009448 biolink:NamedThing iminoglycinuria Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait. phenio_relaxed_subqs.owl OBO:GARD_0008424 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536285 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:242600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_84121007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:42062 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268689 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020723 biolink:NamedThing vitamin D-dependent rickets, type 1A phenio_relaxed_subqs.owl OMIM:264700 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0268813 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0022993 biolink:NamedThing dipsogenic diabetes insipidus Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism. phenio_relaxed_subqs.owl OBO:GARD_0010703 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C548013 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129735 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_82800008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0269972 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018920 biolink:NamedThing peripartum cardiomyopathy Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery. phenio_relaxed_subqs.owl DOID:9997 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000220 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_O90.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_674.54 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_62377009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0002628 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:563 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0270173 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0043275 biolink:NamedThing TORCH syndrome A syndrome that results from a group of infections that affect the fetus or the newborn. The group of infections includes Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex virus, and other infections. The other infections include varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. Signs and symptoms include fever, feeding difficulties, petechial rash, jaundice, hepatosplenomegaly, chorioretinitis, and microcephaly. phenio_relaxed_subqs.owl OBO:GARD_0007781 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C98609 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_41679006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0270204 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006567 biolink:NamedThing kernicterus due to isoimmunization Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus. phenio_relaxed_subqs.owl DOID:12043 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_P57.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_773.4 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C101270 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_359007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000721 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0270210 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002791 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003304 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562692 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:237900 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2312 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0270629 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11387 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020802 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_61974008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007260 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0270726 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4252 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005774 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D038261 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018209 biolink:NamedThing Alexander disease type I Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration. phenio_relaxed_subqs.owl MONDO:0018210 biolink:NamedThing Alexander disease type II Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms. phenio_relaxed_subqs.owl NCIT:C84545 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:203450 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_81854007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:58 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0270733 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4751 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_G23.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020955 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000211 biolink:NamedThing striatal degeneration, autosomal dominant An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity. phenio_relaxed_subqs.owl MONDO:0014889 biolink:NamedThing striatonigral degeneration, childhood-onset phenio_relaxed_subqs.owl NCIT:C125695 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_271930 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_29618004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0270911 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007309 biolink:NamedThing Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications. phenio_relaxed_subqs.owl DOID:0110148 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001245 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C75468 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:118220 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101081 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0270912 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007307 biolink:NamedThing Charcot-Marie-Tooth disease type 1B A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized. phenio_relaxed_subqs.owl DOID:0110152 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001246 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C118782 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:118200 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101082 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0270913 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010995 biolink:NamedThing Charcot-Marie-Tooth disease type 1C Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene. phenio_relaxed_subqs.owl DOID:0110151 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001247 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537984 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601098 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101083 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0270962 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018948 biolink:NamedThing multiminicore myopathy Multi-minicore Disease (MmD) is a hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. phenio_relaxed_subqs.owl OBO:GARD_0009130 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009712 biolink:NamedThing congenital multicore myopathy with external ophthalmoplegia An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as "minicores" on ATPase staining as a result of focal defects in oxidative activity. phenio_relaxed_subqs.owl MONDO:0011271 biolink:NamedThing rigid spine muscular dystrophy 1 An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage. phenio_relaxed_subqs.owl MONDO:0015793 biolink:NamedThing moderate multiminicore disease with hand involvement phenio_relaxed_subqs.owl MONDO:0015794 biolink:NamedThing antenatal multiminicore disease with arthrogryposis multiplex congenita phenio_relaxed_subqs.owl MONDO:0017939 biolink:NamedThing classic multiminicore myopathy phenio_relaxed_subqs.owl OBO:SCTID_55133004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:598 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0270968 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009683 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2H Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement. phenio_relaxed_subqs.owl DOID:0110282 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003844 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535897 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:254110 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_43226001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1878 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0270969 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019949 biolink:NamedThing zebra body myopathy phenio_relaxed_subqs.owl OBO:SCTID_34513009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:97240 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0270972 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016033 biolink:NamedThing Cornelia de Lange syndrome A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes. phenio_relaxed_subqs.owl UMLS:CN239271 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11725 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010109 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007387 biolink:NamedThing Cornelia de Lange syndrome 1 Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene. phenio_relaxed_subqs.owl MONDO:0010370 biolink:NamedThing Cornelia de Lange syndrome 2 An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation. phenio_relaxed_subqs.owl MONDO:0010471 biolink:NamedThing Cornelia de Lange syndrome 5 phenio_relaxed_subqs.owl MONDO:0012555 biolink:NamedThing Cornelia de Lange syndrome 3 Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene. phenio_relaxed_subqs.owl MONDO:0013864 biolink:NamedThing Cornelia de Lange syndrome 4 Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the RAD21 gene. phenio_relaxed_subqs.owl NCIT:C75016 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_122470 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:199 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271055 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C118755 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_19620000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005240 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271097 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050439 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007843 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D052245 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010168 biolink:NamedThing Usher syndrome type 1 A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa. phenio_relaxed_subqs.owl MONDO:0010169 biolink:NamedThing Usher syndrome type 2A Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene. phenio_relaxed_subqs.owl MONDO:0010170 biolink:NamedThing Usher syndrome type 3A Any Usher syndrome in which the cause of the disease is a mutation in the CLRN1 gene. phenio_relaxed_subqs.owl MONDO:0010775 biolink:NamedThing retinitis pigmentosa-deafness syndrome An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome. phenio_relaxed_subqs.owl MONDO:0011748 biolink:NamedThing Usher syndrome type 1G Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene. phenio_relaxed_subqs.owl MONDO:0012662 biolink:NamedThing Usher syndrome type 2D Any Usher syndrome in which the cause of the disease is a mutation in the WHRN gene. phenio_relaxed_subqs.owl MONDO:0013788 biolink:NamedThing Usher syndrome type 3B Any Usher syndrome in which the cause of the disease is a mutation in the HARS gene. phenio_relaxed_subqs.owl MONDO:0013935 biolink:NamedThing Usher syndrome type 1J Any Usher syndrome in which the cause of the disease is a mutation in the CIB2 gene. phenio_relaxed_subqs.owl MONDO:0016484 biolink:NamedThing Usher syndrome type 2 A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa. phenio_relaxed_subqs.owl MONDO:0016485 biolink:NamedThing Usher syndrome type 3 A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms usually by the second decade of life. phenio_relaxed_subqs.owl MONDO:0029141 biolink:NamedThing Usher syndrome, type 4 phenio_relaxed_subqs.owl MONDO:0700087 biolink:NamedThing Usher syndrome type 1B Usher syndrome in which the cause of the disease is a mutation in the MYO7A gene phenio_relaxed_subqs.owl NCIT:C85217 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_276900 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:886 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271428 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_H65-H75 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001365 biolink:NamedThing necrosis of ear ossicle phenio_relaxed_subqs.owl MONDO:0021366 biolink:NamedThing neoplasm of middle ear A neoplasm (disease) that involves the middle ear. phenio_relaxed_subqs.owl NCIT:C27065 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_68996008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271429 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2827407 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84354 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271431 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10435 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_194281003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271432 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002738 biolink:NamedThing acute transudative otitis media Acute form of non-suppurative otitis media. phenio_relaxed_subqs.owl UMLS:C2939185 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3697 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_381.00 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002737 biolink:NamedThing acute sanguinous otitis media A acute transudative otitis media which involves bloody effusion. phenio_relaxed_subqs.owl MONDO:0004865 biolink:NamedThing blue drum syndrome A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color. phenio_relaxed_subqs.owl OBO:SCTID_359609001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271441 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001227 biolink:NamedThing chronic tympanitis Chronic form of tympanitis. phenio_relaxed_subqs.owl MONDO:0002170 biolink:NamedThing chronic eustachian salpingitis Chronic form of otosalpingitis. phenio_relaxed_subqs.owl MONDO:0021206 biolink:NamedThing chronic non-suppurative otitis media Chronic form of non-suppurative otitis media. phenio_relaxed_subqs.owl OBO:SCTID_21186006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271446 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11180 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_381.4 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021203 biolink:NamedThing serous otitis media phenio_relaxed_subqs.owl OBO:SCTID_275481002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271447 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_26169004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271454 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14247 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_382.3 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128386 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_38394007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271466 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004223 biolink:NamedThing polyp of middle ear A benign polypoid growth in the middle ear. phenio_relaxed_subqs.owl DOID:7439 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_H74.4 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6933 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_73103007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271556 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537072 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:104600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_64678009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271558 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002721 biolink:NamedThing necrosis of pituitary Ischemic or hemorrhagic necrosis of the pituitary gland. phenio_relaxed_subqs.owl DOID:3646 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001259 biolink:NamedThing pituitary gland infarction Ischemic necrosis of the pituitary gland. phenio_relaxed_subqs.owl NCIT:C27066 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_59572000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271567 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008250 biolink:NamedThing isolated growth hormone deficiency type II phenio_relaxed_subqs.owl DOID:0060872 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001696 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562704 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:173100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237687003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:231679 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271568 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4318479 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200504 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003924 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129867 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:181393 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271575 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010607 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562705 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:262710 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_27270004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271582 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009223 biolink:NamedThing hypogonadotropic hypogonadism 23 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene. phenio_relaxed_subqs.owl DOID:0090091 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010127 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537919 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:228300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_8829008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:325448 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271633 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1428 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004058 biolink:NamedThing pancreatic cholera A rare syndrome characterized by severe watery diarrhea, hypokalemia, and achlorhydria. It is caused by the oversecretion of vasoactive intestinal peptide from the pancreatic islet cells. phenio_relaxed_subqs.owl MONDO:0005175 biolink:NamedThing aggressive insulitis Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes. phenio_relaxed_subqs.owl MONDO:0005176 biolink:NamedThing benign insulitis A benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic β-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation. phenio_relaxed_subqs.owl MONDO:0005815 biolink:NamedThing pancreatic neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the pancreas. It includes neuroendocrine tumors (low and intermediate grade) and neuroendocrine carcinomas (high grade). phenio_relaxed_subqs.owl NCIT:C27067 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_17346000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271650 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001076 biolink:NamedThing glucose intolerance The inability to regulate blood glucose levels resulting in hyperglycemia. phenio_relaxed_subqs.owl DOID:10603 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018149 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34646 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_267426009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271693 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012603 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131089 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_86907008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79086 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271694 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020088 biolink:NamedThing familial partial lipodystrophy Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis. phenio_relaxed_subqs.owl DOID:0050440 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0011962 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D052496 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007906 biolink:NamedThing familial partial lipodystrophy, Dunnigan type Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis. phenio_relaxed_subqs.owl MONDO:0011448 biolink:NamedThing PPARG-related familial partial lipodystrophy phenio_relaxed_subqs.owl MONDO:0012072 biolink:NamedThing familial partial lipodystrophy, Kobberling type Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant. phenio_relaxed_subqs.owl MONDO:0014098 biolink:NamedThing CIDEC-related familial partial lipodystrophy phenio_relaxed_subqs.owl MONDO:0014431 biolink:NamedThing LIPE-related familial partial lipodystrophy phenio_relaxed_subqs.owl MONDO:0019192 biolink:NamedThing AKT2-related familial partial lipodystrophy phenio_relaxed_subqs.owl NCIT:C84708 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_151660 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_49292002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98306 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271695 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000226 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131000 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:262190 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_33559001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:769 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271714 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009915 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537150 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:240800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_62151007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0006856 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271732 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005709 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536013 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_34041001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271737 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015129 biolink:NamedThing chronic primary adrenal insufficiency A chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones. phenio_relaxed_subqs.owl DOID:13774 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005740 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007071 biolink:NamedThing adrenocortical hypofunction, chronic primary congenital phenio_relaxed_subqs.owl MONDO:0008731 biolink:NamedThing familial adrenal hypoplasia with absent pituitary luteinizing hormone phenio_relaxed_subqs.owl MONDO:0010264 biolink:NamedThing X-linked adrenal hypoplasia congenita A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism. phenio_relaxed_subqs.owl MONDO:0015130 biolink:NamedThing acquired chronic primary adrenal insufficiency An instance of chronic primary adrenal insufficiency that is acquired during the lifetime of the individual. phenio_relaxed_subqs.owl MONDO:0017337 biolink:NamedThing inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands. phenio_relaxed_subqs.owl MONDO:0100480 biolink:NamedThing autoimmune primary adrenal insufficiency Diminished production of adrenocortical hormones due to autoimmune destruction of the adrenal glands. phenio_relaxed_subqs.owl NCIT:C26689 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:240200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_373662000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101959 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271738 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0043370 biolink:NamedThing secondary adrenal insufficiency A hormonal disorder that occurs when lack of corticotropin-releasing hormone (CRH) secretion from the hypothalamus or adrenocorticotropic hormone (ACTH) secretion from the pituitary is responsible for hypofunction of the adrenal cortex. phenio_relaxed_subqs.owl UMLS:C0948387 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012735 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C62602 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_16685009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271740 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562711 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:103230 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_12427005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271760 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006833 biolink:NamedThing lingual goiter Pathological enlargement of the lingual thyroid, ectopic thyroid tissue at the base of the tongue. It may cause upper airway obstruction; dysphagia; or hypothyroidism symptoms. phenio_relaxed_subqs.owl DOID:13196 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D047268 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_75667007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001018 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271789 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010139 biolink:NamedThing isolated thyroid-stimulating hormone deficiency Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis. phenio_relaxed_subqs.owl UMLS:C4082174 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070123 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010129 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:275100 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90674 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271814 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1306804 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7187 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35829 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_361126006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271815 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D050032 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C114389 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_52772002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271824 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001328 biolink:NamedThing thyroid hormone resistance syndrome An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine. phenio_relaxed_subqs.owl MONDO:0010133 biolink:NamedThing thyroid dyshormonogenesis 2A Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase. phenio_relaxed_subqs.owl MONDO:0010135 biolink:NamedThing thyroid dyshormonogenesis 3 Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene. phenio_relaxed_subqs.owl MONDO:0010136 biolink:NamedThing thyroid dyshormonogenesis 4 Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the IYD gene. phenio_relaxed_subqs.owl MONDO:0010137 biolink:NamedThing thyroid dyshormonogenesis 5 Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene. phenio_relaxed_subqs.owl MONDO:0011792 biolink:NamedThing thyroid dyshormonogenesis 6 Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene. phenio_relaxed_subqs.owl MONDO:0020716 biolink:NamedThing familial thyroid dyshormonogenesis 1 phenio_relaxed_subqs.owl OBO:SCTID_36985004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271826 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002938 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C121747 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_22558005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271829 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060744 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004271 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536648 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C121745 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:274600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_70348004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:705 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271844 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3989 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_9092004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000457 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271847 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12465 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_N25.81 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_588.81 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_19034001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271858 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C114821 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_78200003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271865 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018242 biolink:NamedThing autoimmune hypoparathyroidism An autoimmune form of hypoparathyroidism. phenio_relaxed_subqs.owl OBO:SCTID_75316000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:36913 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271889 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342436 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200089 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006276 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C116955 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237733001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1672 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0271907 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015610 biolink:NamedThing acquired aplastic anemia An instance of aplastic anemia that is acquired during the lifetime of the individual. phenio_relaxed_subqs.owl MONDO:0012197 biolink:NamedThing idiopathic aplastic anemia Aplastic anemia without a known cause. phenio_relaxed_subqs.owl MONDO:0020113 biolink:NamedThing primary acquired red cell aplasia phenio_relaxed_subqs.owl OBO:SCTID_55907008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0006926 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:164823 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0272060 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0040671 biolink:NamedThing class V glucose-6-phosphate dehydrogenase deficiency phenio_relaxed_subqs.owl OBO:SCTID_80963002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:362 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0272066 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562718 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611881 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111578003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:57 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0272087 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018963 biolink:NamedThing hereditary methemoglobinemia Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present. phenio_relaxed_subqs.owl OBO:GARD_0002659 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C580280 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009604 biolink:NamedThing methemoglobin reductase deficiency phenio_relaxed_subqs.owl MONDO:0009605 biolink:NamedThing methemoglobinemia type 4 Any methemoglobinemia in which the cause of the disease is a mutation in the CYB5A gene. phenio_relaxed_subqs.owl MONDO:0009606 biolink:NamedThing methemoglobinemia due to deficiency of methemoglobin reductase phenio_relaxed_subqs.owl MONDO:0018023 biolink:NamedThing hemoglobin M disease phenio_relaxed_subqs.owl MONDO:0020835 biolink:NamedThing methemoglobinemia, alpha type phenio_relaxed_subqs.owl NCIT:C98898 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_267550008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:621 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0272126 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8931 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006389 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_D69.41 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_287.32 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536380 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C61284 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_75331009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1959 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0272137 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080520 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562719 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300622 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0272167 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009973 biolink:NamedThing reticular dysgenesis Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated. phenio_relaxed_subqs.owl DOID:0060020 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008625 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538361 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009456 biolink:NamedThing Immunoerythromyeloid hypoplasia phenio_relaxed_subqs.owl NCIT:C27070 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:267500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111584000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:33355 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0272174 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562721 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:150550 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_71436005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0272187 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6612 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009544 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007293 biolink:NamedThing leukocyte adhesion deficiency 1 Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections. phenio_relaxed_subqs.owl MONDO:0009953 biolink:NamedThing leukocyte adhesion deficiency type II Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit. phenio_relaxed_subqs.owl MONDO:0013016 biolink:NamedThing leukocyte adhesion deficiency 3 Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder. phenio_relaxed_subqs.owl NCIT:C27874 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_77358003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2968 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0272199 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009974 biolink:NamedThing familial hemophagocytic lymphohistiocytosis type 1 Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth. phenio_relaxed_subqs.owl UMLS:CN034020 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205265 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110921 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C61276 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:267700 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0272217 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0044921 biolink:NamedThing atypical lymphoproliferative disorder phenio_relaxed_subqs.owl NCIT:C7764 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_20991001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0272236 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080544 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_279.05 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D053306 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010626 biolink:NamedThing hyper-IgM syndrome type 1 The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele. phenio_relaxed_subqs.owl MONDO:0011735 biolink:NamedThing hyper-IgM syndrome type 3 A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells. phenio_relaxed_subqs.owl MONDO:0011971 biolink:NamedThing hyper-IgM syndrome type 5 Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene. phenio_relaxed_subqs.owl MONDO:0015975 biolink:NamedThing hyper-IgM syndrome with susceptibility to opportunistic infections phenio_relaxed_subqs.owl MONDO:0015976 biolink:NamedThing hyper-IgM syndrome without susceptibility to opportunistic infections phenio_relaxed_subqs.owl NCIT:C3990 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_308230 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_82286005 biolink:NamedThing phenio_relaxed_subqs.owl OBO:Wikidata_Q1617658 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0272238 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015698 biolink:NamedThing transient hypogammaglobulinemia of infancy A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span. phenio_relaxed_subqs.owl DOID:624 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_D80.7 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27071 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_88714009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:169139 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0272242 biolink:NamedThing phenio_relaxed_subqs.owl DOID:626 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000015 biolink:NamedThing classic complement early component deficiency A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response. phenio_relaxed_subqs.owl MONDO:0009006 biolink:NamedThing complement component 2 deficiency Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion. phenio_relaxed_subqs.owl MONDO:0012295 biolink:NamedThing complement component 5 deficiency A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections. phenio_relaxed_subqs.owl MONDO:0012594 biolink:NamedThing complement factor I deficiency phenio_relaxed_subqs.owl MONDO:0013487 biolink:NamedThing recurrent Neisseria infections due to factor D deficiency phenio_relaxed_subqs.owl MONDO:0015699 biolink:NamedThing immunodeficiency due to a classical component pathway complement deficiency phenio_relaxed_subqs.owl MONDO:0015700 biolink:NamedThing immunodeficiency due to a late component of complement deficiency A genetic deficiency of any membrane attack complex (MAC, also known as terminal component complex (TCC)) component of the complement system (C5, C6, C7, C8, C9). Deficiencies of the terminal complement pathway results in a predisposition to infections, such as invasive meningococcal disease or disseminated gonococcal infection. phenio_relaxed_subqs.owl NCIT:C4691 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_24743004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:459345 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0272258 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007407 biolink:NamedThing Cryoglobulinemic vasculitis Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia. phenio_relaxed_subqs.owl UMLS:C0340992 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0343208 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852456 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006386 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565141 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019726 biolink:NamedThing type II mixed cryoglobulinemia Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody). phenio_relaxed_subqs.owl MONDO:0019727 biolink:NamedThing mixed cryoglobulinemia type III Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs. phenio_relaxed_subqs.owl OMIM:123550 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_190815001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:91138 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0272282 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008556 biolink:NamedThing thrombocytopenia, cyclic phenio_relaxed_subqs.owl OBO:GARD_0009862 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536899 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:188020 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_48788004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0272302 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2717750 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205641 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111044 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002562 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D055652 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84741 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:139090 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_51720005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:721 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0272309 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007508 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536249 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:179000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_277791008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0272322 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_16872008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:169802 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0272324 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_26029002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:169808 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0272375 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013144 biolink:NamedThing hereditary antithrombin deficiency A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins). phenio_relaxed_subqs.owl DOID:3755 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006148 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020152 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613118 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_36351005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:82 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0272412 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2530 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_D73.3 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35347 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_82053000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0274294 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616182 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0275524 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0100128 biolink:NamedThing coinfection The simultaneous infection of a host by multiple pathogen species. phenio_relaxed_subqs.owl UMLS:C0275619 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0023149 biolink:NamedThing infection due to clostridium perfringens phenio_relaxed_subqs.owl OBO:GARD_0011970 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_65154009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0275654 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001837 biolink:NamedThing acute gonococcal salpingitis Acute form of gonococcal salpingitis. phenio_relaxed_subqs.owl DOID:13942 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_45377007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0275662 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0343714 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13454 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_098.51 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_266138002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0275715 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010550 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314946 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0275742 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11750 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A37.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_77116006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0275757 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000238 biolink:NamedThing pestis minor A mild form of bubonic plague characterized by symptoms such as mild fever and lymphadenitis. phenio_relaxed_subqs.owl OBO:SCTID_186287003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0275758 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_13272007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0275842 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_186867005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0275859 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050488 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_090.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_4359001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0275911 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13282 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_60136008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0275919 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0023153 biolink:NamedThing tuberculous ascites A type of abdominal tuberculosis that is characterized by accumulation of fluid in the abdomen, a swollen abdomen, and slightly raised tubercles of 1–2 mm all over the peritoneum. phenio_relaxed_subqs.owl NCIT:C27076 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_4501007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0275932 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2148 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_84194006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0275933 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050166 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_49558004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0275974 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050382 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_21857006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0275979 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111835002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0275998 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10568 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C41352 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_23191004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0276007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1517744 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10567 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_102.4 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C41354 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_186968004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0276046 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D048089 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007256 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0276075 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0040732 biolink:NamedThing Pseudomonas aeruginosa infectious disease phenio_relaxed_subqs.owl MONDO:0005142 biolink:NamedThing Pseudomonas aeruginosa CF5 infection A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5. phenio_relaxed_subqs.owl MONDO:0005143 biolink:NamedThing Pseudomonas aeruginosa PA14 infection A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14. phenio_relaxed_subqs.owl OBO:SCTID_11218009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0276180 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002594 biolink:NamedThing monkeypox An infection that is caused by an Orthopoxvirus, which is transmitted by primates or rodents, and which is characterized by a prodromal syndrome of fever, chills, headache, myalgia, and lymphedema; initial symptoms are followed by a generalized papular rash that typically progresses from vesiculation through crusting over the course of two weeks. phenio_relaxed_subqs.owl DOID:3292 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010722 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B04 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D045908 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128421 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_359814004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0276225 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001486 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007173 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_91576008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:293 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0276241 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008304 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_24043009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0276253 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35360 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_7678002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0276264 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0027026 biolink:NamedThing Buschke Lowenstein tumor A verrucous carcinoma of the skin or mucosa that occurs in the anogenital region. phenio_relaxed_subqs.owl OBO:GARD_0009663 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D062688 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004131 biolink:NamedThing anal verrucous carcinoma A large, well differentiated squamous cell carcinoma with a cauliflower-like appearance, characterized by the presence of an exophytic and endophytic growth pattern. Morphologically, there is papillomatosis and acanthosis present, however cytologically the neoplastic squamous cells have a benign appearance. Dysplastic changes are minimal. It does not respond to conservative treatment and it is regarded by many authors as an intermediate lesion between condyloma acuminatum and squamous cell carcinoma. phenio_relaxed_subqs.owl NCIT:C6371 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_402910001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0276286 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050516 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A92.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_85579005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0276289 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018661 biolink:NamedThing Zika virus infectious disease Mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy. phenio_relaxed_subqs.owl UMLS:CN237724 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060478 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012894 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A92.5 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000071243 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128423 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_3928002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:448237 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0276324 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0042974 biolink:NamedThing parainfluenza virus type 3 infectious disease Parainfluenza virus type 3 is one of a group of common viruses known as human parainfluenza viruses (HPIV) that cause a variety of respiratory illnesses. Symptoms usually develop between 2 and 7 days from the time of exposure and typically resolve in 7-10 days. Symptoms may include fever, runny nose, and cough. HPIV-3 can also cause bronchiolitis, bronchitis, and pneumonia. Infants and young children are particularly susceptible to HPIV-3 infections, though older adults and those with a weakened immune system are also at risk for complications. HPIVs are usually spread from an infected person to others through coughing, sneezing, and/or touching. There is currently no vaccine to protect against parainfluenza virus infections. Most HPIV infections resolve on their own and do not require special treatment, though medical intervention may be necessary for severe breathing problems. Most adults have antibodies against parainfluenza but can get repeat infections. phenio_relaxed_subqs.owl OBO:GARD_0004215 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_30270006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0276386 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000345 biolink:NamedThing Oropouche fever A disease caused by infection with Oropouche virus. phenio_relaxed_subqs.owl DOID:0050521 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_72880002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0276487 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D055761 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0276648 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0042433 biolink:NamedThing mycotic endocarditis An endocarditis (disease) caused by infection with Fungi. phenio_relaxed_subqs.owl OBO:SCTID_86348002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0276682 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9577 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_P37.5 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_771.7 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C116810 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_414821002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0276712 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050279 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_240783007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0276725 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_91051003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0276912 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0011989 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D058968 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001410 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0276926 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1704430 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1394 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012553 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39294 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_236706006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007530 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0276932 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35364 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_52179003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0277108 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000294 biolink:NamedThing mesocestoidiasis An disease or disorder caused by infection with Mesocestoides. phenio_relaxed_subqs.owl UMLS:C0277110 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050253 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_85750001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0277331 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050254 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_105713003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0277356 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050266 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000393 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D058285 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_64612002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001445 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:879 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0277513 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_47277009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0277524 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006039 biolink:NamedThing infectious colitis A viral or bacterial infectious process affecting the large intestine. phenio_relaxed_subqs.owl NCIT:C78359 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_39341005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000035 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0278863 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5396 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006388 biolink:NamedThing prolactin-producing pituitary gland carcinoma A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin. phenio_relaxed_subqs.owl NCIT:C7910 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0278864 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003828 biolink:NamedThing growth hormone-producing pituitary gland carcinoma A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces growth hormone. It may be associated with acromegaly. phenio_relaxed_subqs.owl NCIT:C7911 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0278867 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024863 biolink:NamedThing small size posterior uveal melanoma phenio_relaxed_subqs.owl NCIT:C9089 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0278868 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024864 biolink:NamedThing medium/large size posterior uveal melanoma phenio_relaxed_subqs.owl NCIT:C9090 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0278869 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006326 biolink:NamedThing ocular melanoma with extraocular extension A melanoma arising from and extending beyond the structures of the eye. phenio_relaxed_subqs.owl NCIT:C7913 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000404 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0278883 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000543 biolink:NamedThing ovarian melanoma A melanoma (disease) that involves the ovary. phenio_relaxed_subqs.owl NCIT:C8925 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_443493003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0002617 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0278985 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004374 biolink:NamedThing adult extraskeletal osteosarcoma An osteosarcoma arising from the soft tissue, and occurring in adults. phenio_relaxed_subqs.owl DOID:7827 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7925 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0279602 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004301 biolink:NamedThing fibrosarcomatous osteosarcoma A conventional osteosarcoma characterized by the presence of spindle shaped cells. phenio_relaxed_subqs.owl DOID:7603 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4020 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_FIOS biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0279603 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002627 biolink:NamedThing chondroblastic osteosarcoma An osteosarcoma characterised by the presence of atypical cartilage of variable cellularity. It may or may not be associated with the presence of myxoid areas or focal bone formation. phenio_relaxed_subqs.owl DOID:3372 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4021 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_CHOS biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0279651 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3500 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002667 biolink:NamedThing gallbladder signet ring cell adenocarcinoma An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of signet ring malignant epithelial cells. phenio_relaxed_subqs.owl MONDO:0004067 biolink:NamedThing gallbladder mucinous adenocarcinoma An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor. phenio_relaxed_subqs.owl MONDO:0004148 biolink:NamedThing gallbladder papillary neoplasm with an associated invasive carcinoma An intraluminal papillary neoplasm, usually with high grade intraepithelial neoplasia, that arises from the gallbladder. It is associated with the presence of an invasive carcinoma. The carcinomatous component is usually an adenocarcinoma. phenio_relaxed_subqs.owl MONDO:0004149 biolink:NamedThing gallbladder pleomorphic giant cell adenocarcinoma phenio_relaxed_subqs.owl NCIT:C9166 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000262 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0279653 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C9167 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000604 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0279658 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5535 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006217 biolink:NamedThing gallbladder adenosquamous carcinoma A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components. phenio_relaxed_subqs.owl NCIT:C9170 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000267 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0279663 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006046 biolink:NamedThing ovarian serous cystadenocarcinoma A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features. phenio_relaxed_subqs.owl DOID:5746 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7978 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000043 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0279665 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002701 biolink:NamedThing ovarian mucinous cystadenocarcinoma An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis. phenio_relaxed_subqs.owl DOID:3604 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4026 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254851009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001963 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0279667 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004222 biolink:NamedThing ovarian clear cell cystadenocarcinoma A malignant glandular epithelial neoplasm arising from the ovary. It is characterized by the presence of clear and hobnail cells and cystic structures. phenio_relaxed_subqs.owl DOID:7438 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7980 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0279674 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006142 biolink:NamedThing cervical small cell carcinoma A small cell carcinoma arising from the cervix. phenio_relaxed_subqs.owl DOID:6740 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7982 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_SCCE biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000171 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0279687 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6037 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003745 biolink:NamedThing choroid spindle cell melanoma A spindle cell melanoma that involves the optic choroid. phenio_relaxed_subqs.owl MONDO:0004188 biolink:NamedThing iris spindle cell melanoma A spindle cell melanoma that involves the iris. phenio_relaxed_subqs.owl NCIT:C7986 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0279693 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6992 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004063 biolink:NamedThing intermediate cell type iris melanoma Iris melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells. phenio_relaxed_subqs.owl MONDO:0004065 biolink:NamedThing intermediate cell type choroid melanoma Choroid melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells. phenio_relaxed_subqs.owl MONDO:0004066 biolink:NamedThing intermediate cell type ciliary body melanoma Ciliary body melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells. phenio_relaxed_subqs.owl NCIT:C7989 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0279700 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7609 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7993 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0279701 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7610 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7994 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0279708 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003402 biolink:NamedThing testicular yolk sac tumor A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation. phenio_relaxed_subqs.owl DOID:5344 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000348 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004106 biolink:NamedThing testicular yolk sac tumor, macrocystic pattern A yolk sac tumor that arises from the testis and is characterized by the presence of collections of thin-walled spaces. phenio_relaxed_subqs.owl MONDO:0004178 biolink:NamedThing testicular yolk sac tumor, endodermal sinus pattern A yolk sac tumor that arises from the testis and is characterized by the presence of connective tissue stalks that contain a blood vessel and are lined by cells with clear cytoplasm and prominent nucleoli. phenio_relaxed_subqs.owl MONDO:0004198 biolink:NamedThing testicular yolk sac tumor, solid pattern A yolk sac tumor that arises from the testis and is characterized by the presence of aggregates of polygonal malignant cells with clear cytoplasm and prominent nucleoli. phenio_relaxed_subqs.owl MONDO:0004219 biolink:NamedThing polyvesicular vitelline pattern testicular yolk sac tumor A yolk sac tumor that arises from the testis and is characterized by the presence of collections of vesicles that are surrounded by connective tissue. phenio_relaxed_subqs.owl MONDO:0004402 biolink:NamedThing testicular yolk sac tumor, glandular-alveolar pattern A yolk sac tumor that arises from the testis and is characterized by the presence of gland-like spaces, irregular alveoli, and tubular structures. phenio_relaxed_subqs.owl MONDO:0004453 biolink:NamedThing testicular yolk sac tumor, myxomatous pattern A yolk sac tumor that arises from the testis and is characterized by the presence of myxomatous tissue that contains collections of malignant cells with prominent nucleoli. phenio_relaxed_subqs.owl MONDO:0004493 biolink:NamedThing testicular yolk sac tumor, papillary pattern A yolk sac tumor that arises from the testis and is characterized by the presence of numerous papillary structures that are lined by cells with prominent nucleoli. phenio_relaxed_subqs.owl MONDO:0004494 biolink:NamedThing testicular yolk sac tumor, hepatoid pattern A yolk sac tumor that arises from the testis and is characterized by the presence of hepatoid cells collections. phenio_relaxed_subqs.owl MONDO:0004543 biolink:NamedThing enteric pattern testicular yolk sac tumor A yolk sac tumor that arises from the testis and is characterized by the presence of immature glands. phenio_relaxed_subqs.owl MONDO:0004547 biolink:NamedThing reticular pattern testicular yolk sac tumor A yolk sac tumor that arises from the testis and is characterized by the presence of a meshwork of small vacuolated cells resulting in a honeycomb appearance. phenio_relaxed_subqs.owl NCIT:C8000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_TYST biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000574 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0279748 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C8023 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_422541001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0280028 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200189 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27080 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_110000005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:168960 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0280089 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006041 biolink:NamedThing lung carcinoid tumor A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis. phenio_relaxed_subqs.owl NCIT:C4038 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_LUCA biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254627002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000037 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0280131 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5567 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003331 biolink:NamedThing ovarian monodermal teratoma A teratoma that arises from the ovary and is characterized by the presence of tissues derived exclusively from one embryonic germ cell layer. phenio_relaxed_subqs.owl MONDO:0003819 biolink:NamedThing childhood teratoma of the ovary A mature or immature teratoma that arises from the ovary and occurs in children. phenio_relaxed_subqs.owl MONDO:0003821 biolink:NamedThing ovarian biphasic or triphasic teratoma A germ cell tumor that arises from the ovary and is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm. phenio_relaxed_subqs.owl NCIT:C8110 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716077006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0006463 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0280134 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002372 biolink:NamedThing ovarian monodermal and highly specialized teratoma A teratoma of the ovary composed exclusively or predominantly of a single type of tissue derived from the ectoderm or endoderm. A representative example is struma ovarii which is a teratoma composed exclusively or predominantly of thyroid tissue. phenio_relaxed_subqs.owl DOID:2641 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C8113 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0280135 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003710 biolink:NamedThing ovarian mixed germ cell neoplasm An ovarian malignant germ cell tumor characterized by the presence of at least two different germ cell components. At least one of the germ cell components is primitive. The most common combination of germ cell elements is dysgerminoma and yolk sac tumor. phenio_relaxed_subqs.owl DOID:5936 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C8114 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_OMGCT biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0280297 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004958 biolink:NamedThing oral cavity squamous cell carcinoma A squamous cell carcinoma arising from the oral cavity. It affects predominantly adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with signs and symptoms of locally advanced disease including mucosal ulceration, pain, difficulty with speaking, chewing, and swallowing, bleeding, weight loss, and neck swelling. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status. phenio_relaxed_subqs.owl NCIT:C42690 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:502369 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0280302 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021427 biolink:NamedThing squamous cell carcinoma of lip A squamous cell carcinoma that involves the lip. phenio_relaxed_subqs.owl NCIT:C4042 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_255071008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:502366 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0280333 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006059 biolink:NamedThing nasal cavity squamous cell carcinoma A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass. phenio_relaxed_subqs.owl DOID:5515 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C8192 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000057 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0280334 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0044705 biolink:NamedThing paranasal sinus squamous cell carcinoma A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid, frontal, maxillary, or sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. phenio_relaxed_subqs.owl MONDO:0004394 biolink:NamedThing maxillary sinus squamous cell carcinoma A squamous cell carcinoma that arises from the mucosal epithelial surface of the maxillary sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. phenio_relaxed_subqs.owl NCIT:C8193 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:500464 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0280336 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003065 biolink:NamedThing nasal cavity inverting papilloma A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas. phenio_relaxed_subqs.owl DOID:4633 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C8194 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0280746 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002225 biolink:NamedThing ovarian sarcoma A rare, aggressive malignant mesenchymal neoplasm that arises from the ovary. The prognosis is poor. phenio_relaxed_subqs.owl DOID:2146 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002858 biolink:NamedThing ovary rhabdomyosarcoma A malignant mesenchymal tumor with skeletal muscle differentiation affecting the ovaries. phenio_relaxed_subqs.owl MONDO:0003035 biolink:NamedThing ovarian angiosarcoma A malignant vascular neoplasm arising from the ovary. phenio_relaxed_subqs.owl MONDO:0003355 biolink:NamedThing ovary leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells. phenio_relaxed_subqs.owl MONDO:0003589 biolink:NamedThing liposarcoma of the ovary A malignant adipose tissue neoplasm of the ovary. phenio_relaxed_subqs.owl NCIT:C8267 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_423627007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0282192 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050195 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_67247008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:319229 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0282207 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6225 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004427 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D044483 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7035 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:175500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_76304001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2930 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0282312 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10773 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000183 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A20.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_020.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_50797007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0282488 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0600040 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1720830 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204884 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13949 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1678 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_595.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018856 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27189 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111409009 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_197834003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000869 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:37202 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0282512 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2538 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006855 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018887 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019123 biolink:NamedThing continuous spikes and waves during sleep Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development. phenio_relaxed_subqs.owl NCIT:C84806 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:245570 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_230438007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001010 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98818 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0282528 biolink:NamedThing phenio_relaxed_subqs.owl DOID:906 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_277.86 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0100257 biolink:NamedThing peroxisomal single enzyme/protein defect Any peroxisomal disease in which the cause of the disease is a defect in a single enyme or protein. phenio_relaxed_subqs.owl MONDO:0100276 biolink:NamedThing disorder of defective peroxisomal and mitochondrial fission A disease that has its basis in the disruption of peroxisome and mitochondrial fission. phenio_relaxed_subqs.owl NCIT:C85005 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238059005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:68373 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0282529 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015776 biolink:NamedThing rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth. phenio_relaxed_subqs.owl DOID:2580 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013160 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E71.540 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018902 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008972 biolink:NamedThing rhizomelic chondrodysplasia punctata type 1 A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause. phenio_relaxed_subqs.owl MONDO:0009112 biolink:NamedThing rhizomelic chondrodysplasia punctata type 2 Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene. phenio_relaxed_subqs.owl MONDO:0010823 biolink:NamedThing rhizomelic chondrodysplasia punctata type 3 Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene. phenio_relaxed_subqs.owl MONDO:0100265 biolink:NamedThing peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene. phenio_relaxed_subqs.owl NCIT:C85047 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_215100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_56692003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:177 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0282550 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4491 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018923 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_95877004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007430 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0282577 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5212 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010307 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018981 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005500 biolink:NamedThing congenital disorder of glycosylation type I A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor. phenio_relaxed_subqs.owl MONDO:0005501 biolink:NamedThing congenital disorder of glycosylation type II A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain. phenio_relaxed_subqs.owl MONDO:0011291 biolink:NamedThing congenital disorder of glycosylation type 1C A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3). phenio_relaxed_subqs.owl MONDO:0012123 biolink:NamedThing congenital disorder of glycosylation type 1E The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common. phenio_relaxed_subqs.owl MONDO:0013440 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2P Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles. phenio_relaxed_subqs.owl MONDO:0017749 biolink:NamedThing disorder of multiple glycosylation phenio_relaxed_subqs.owl MONDO:0018292 biolink:NamedThing congenital disorder of glycosylation-related bone disorder phenio_relaxed_subqs.owl MONDO:0022622 biolink:NamedThing CDG syndrome type 4 phenio_relaxed_subqs.owl MONDO:0060720 biolink:NamedThing congenital disorder of glycosylation with defective fucosylation phenio_relaxed_subqs.owl MONDO:0100068 biolink:NamedThing SLC10A7-CDG SLC10A7 deficiency is characterized by compound heterozygous mutations in the SLC10A7 gene, a gene of unknown function in humans. It combines overlapping clinical phenotypes characterized by short stature, defective enamel formation (amelogenesis imperfecta), skeletal dysplasia, facial dysmorphism, moderate hearing impairment and mildly impaired intellectual developmen. phenio_relaxed_subqs.owl NCIT:C84615 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238049009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:137 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0282687 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4325 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002035 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D019142 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C36171 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_37109004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007243 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:319218 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0300934 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000290 biolink:NamedThing primary amebic meningoencephalitis A infectious disease involving the Naegleria fowleri. phenio_relaxed_subqs.owl UMLS:C4303098 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050242 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009554 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535275 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721816008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0302280 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200506 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D047808 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0045023 biolink:NamedThing acquired adrenogenital syndrome An instance of adrenogenital syndrome that is acquired during the lifetime of the individual. phenio_relaxed_subqs.owl OBO:SCTID_267395000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:181412 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0302332 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011041 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005493 biolink:NamedThing carbon monoxide-induced delayed encephalopathy Anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event phenio_relaxed_subqs.owl MONDO:0016312 biolink:NamedThing 5-fluorouracil poisoning 5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men. phenio_relaxed_subqs.owl MONDO:0016421 biolink:NamedThing toxic oil syndrome Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates. phenio_relaxed_subqs.owl MONDO:0016588 biolink:NamedThing infantile mercury poisoning Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss, and insomnia. phenio_relaxed_subqs.owl MONDO:0017394 biolink:NamedThing ketamine-induced biliary dilatation Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients. phenio_relaxed_subqs.owl MONDO:0017638 biolink:NamedThing manganese poisoning Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include confusion; hallucinations; and an extrapyramidal syndrome (parkinson disease, secondary) that includes rigidity; dystonia; retropulsion; and tremor. (Adams, Principles of Neurology, 6th ed, p1213) phenio_relaxed_subqs.owl MONDO:0017639 biolink:NamedThing carbon monoxide-induced parkinsonism phenio_relaxed_subqs.owl MONDO:0017640 biolink:NamedThing cyanide-induced parkinsonism Cyanide-induced parkinsonism is a rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum. phenio_relaxed_subqs.owl MONDO:0017859 biolink:NamedThing colchicine poisoning A potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days. phenio_relaxed_subqs.owl MONDO:0017860 biolink:NamedThing methanol poisoning Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure). phenio_relaxed_subqs.owl MONDO:0017861 biolink:NamedThing ethylene glycol poisoning Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure. phenio_relaxed_subqs.owl MONDO:0017862 biolink:NamedThing paraquat poisoning Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported. phenio_relaxed_subqs.owl MONDO:0017863 biolink:NamedThing digitalis poisoning Digitalis (digoxin) poisoning is a potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances. phenio_relaxed_subqs.owl MONDO:0018019 biolink:NamedThing lead poisoning 5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs. phenio_relaxed_subqs.owl MONDO:0018020 biolink:NamedThing mercury poisoning Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity. phenio_relaxed_subqs.owl MONDO:0018173 biolink:NamedThing acute opioid poisoning Acute opioid poisoning is a rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication. phenio_relaxed_subqs.owl MONDO:0018547 biolink:NamedThing acute tricyclic antidepressant poisoning Acute tricyclic antidepressant (TCA) poisoning is a potentially lethal intoxication that is characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension, and sudden death. phenio_relaxed_subqs.owl MONDO:0018548 biolink:NamedThing acute poisoning by drugs with membrane-stabilizing effect Acute poisoning with a membrane-stabilizing effect is potentially life-threatening. The principle drugs involved are tricyclic antidepressants, chloroquine, some types of beta blockers, class IA antiarrhythmics, carbamazepin and cocaine. phenio_relaxed_subqs.owl MONDO:0018669 biolink:NamedThing snakebite envenomation phenio_relaxed_subqs.owl MONDO:0018741 biolink:NamedThing paracetamol poisoning phenio_relaxed_subqs.owl MONDO:0018754 biolink:NamedThing cyanide poisoning phenio_relaxed_subqs.owl MONDO:0018755 biolink:NamedThing scorpion envenomation Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema. phenio_relaxed_subqs.owl MONDO:0018952 biolink:NamedThing argyria Argyria is a rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine). phenio_relaxed_subqs.owl MONDO:0019140 biolink:NamedThing acute ackee fruit intoxication Acute ackee fruit intoxication (also referred to as Jamaican vomiting syndrome or sickness) is caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is rare in France and other Western countries. Intoxication leads to toxic hypoglycaemia and inhibition of neoglucogenesis. The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils. phenio_relaxed_subqs.owl MONDO:0019544 biolink:NamedThing cocaine intoxication phenio_relaxed_subqs.owl MONDO:0019545 biolink:NamedThing systemic monochloroacetate poisoning Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours. phenio_relaxed_subqs.owl MONDO:0023176 biolink:NamedThing formaldehyde poisoning phenio_relaxed_subqs.owl MONDO:0023305 biolink:NamedThing heavy metal poisoning Heavy metal poisoning refers to when excessive exposure to a heavy metal affects the normal function of the body. Examples of heavy metals that can cause toxicity include lead, mercury, arsenic, cadmium, and chromium. Exposure may occur through the diet, from medications, from the environment, or in the course of work or play. Heavy metals can enter the body through the skin, or by inhalation or ingestion. Toxicity can result from sudden, severe exposure, or from chronic exposure over time. Symptoms can vary depending on the metal involved, the amount absorbed, and the age of the person exposed. For example, young children are more susceptible to the effects of lead exposure because they absorb more compared with adults and their brains are still developing. Nausea, vomiting, diarrhea, and abdominal pain are common symptoms of acute metal ingestion. Chronic exposure may cause various symptoms resulting from damage to body organs, and may increase the risk of cancer. Treatment depends on the circumstances of the exposure. phenio_relaxed_subqs.owl MONDO:0034212 biolink:NamedThing methotrexate toxicity phenio_relaxed_subqs.owl MONDO:0035511 biolink:NamedThing ricin poisoning A rare disorder due to poisoning characterized by acute onset of potentially life-threatening illness following ingestion, inhalation, or injection of ricin, a lectin present in the seeds of Ricinus communis, the castor oil plant. Clinical presentation depends on the route of administration, inhalation being the most toxic route, followed by oral ingestion. Presenting signs and symptoms include nausea, vomiting, diarrhea, hematemesis, and melena (upon ingestion), cough, wheezing, dyspnea, sore throat, and congestion (upon inhalation), and erythema, induration, blisters, capillary leak syndrome, and localized necrosis (upon injection). The condition can progress to seizures, shock, organ failure, pulmonary edema, and respiratory failure. phenio_relaxed_subqs.owl MONDO:0042497 biolink:NamedThing mycotoxicosis Poisoning caused by the ingestion of mycotoxins (toxins of fungal origin). phenio_relaxed_subqs.owl MONDO:0043230 biolink:NamedThing ciguatera fish poisoning Poisoning caused by ingestion of seafood containing microgram levels of ciguatoxins. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances. phenio_relaxed_subqs.owl MONDO:0043339 biolink:NamedThing lathyrism A paralytic condition of the legs caused by ingestion of lathyrogens, especially beta-aminopropionitrile or beta-N-oxalyl amino-L-alanine, which are found in the seeds of plants of the genus lathyrus. phenio_relaxed_subqs.owl MONDO:0043523 biolink:NamedThing cadmium poisoning Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis. phenio_relaxed_subqs.owl OBO:SCTID_75478009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0008546 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0302362 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14456 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_427999003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0311221 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010967 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_445479007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0311223 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14188 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_M75.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_726.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_399114005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000941 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0311227 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008357 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_90623003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0311273 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14270 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35372 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_26918003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0311284 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11824 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007103 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27896 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_84241008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:139436 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0311376 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A20-A28 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0025303 biolink:NamedThing anaplasmosis An disease or disorder caused by infection with Anaplasma. phenio_relaxed_subqs.owl NCIT:C35373 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0311386 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2112 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003033 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A07.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D021865 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4076 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_371423007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007232 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:472 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0333572 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1706802 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6755 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C8323 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0333693 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018067 biolink:NamedThing triploidy Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptoms associated with triploidy vary but may include a variety of birth defects and an unusually small size. This condition does not run in families and is not associated with maternal or paternal age. Treatment is based on the signs and symptoms present in each person. phenio_relaxed_subqs.owl OBO:GARD_0005295 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D057885 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85204 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_66651005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3376 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334019 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6945 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006621 biolink:NamedThing vulvar inverted follicular keratosis Seborrheic keratosis that arises from follicular structures in the vulva. It is characterized by the presence of prominent squamous eddies. phenio_relaxed_subqs.owl NCIT:C9007 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_394728005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000717 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334056 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3274 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004531 biolink:NamedThing sclerosing adenosis of breast Breast adenosis characterized by the proliferation of acini, a lobulated architectural pattern, and stromal sclerosis. The luminal epithelial and myopepithelial cells are preserved. Microcalcifications and foci of apocrine metaplasia may be present. phenio_relaxed_subqs.owl NCIT:C6940 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334125 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562738 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:235900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234577004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334239 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050685 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018288 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003708 biolink:NamedThing extrahepatic bile duct small cell adenocarcinoma An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts. It is characterized by the presence of malignant small cells. phenio_relaxed_subqs.owl MONDO:0003795 biolink:NamedThing ovarian small cell carcinoma A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type. phenio_relaxed_subqs.owl MONDO:0003978 biolink:NamedThing colon small cell neuroendocrine carcinoma An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon. It is characterized by the presence of malignant small cells. phenio_relaxed_subqs.owl MONDO:0004114 biolink:NamedThing urinary bladder small cell neuroendocrine carcinoma A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ. phenio_relaxed_subqs.owl MONDO:0004116 biolink:NamedThing esophageal small cell neuroendocrine carcinoma An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the esophagus. It is characterized by the presence of malignant small cells. phenio_relaxed_subqs.owl MONDO:0004120 biolink:NamedThing Bartholin gland small cell carcinoma A rare neuroendocrine carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant small cells and high mitotic activity. phenio_relaxed_subqs.owl MONDO:0004122 biolink:NamedThing thymus small cell carcinoma An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies. phenio_relaxed_subqs.owl MONDO:0006197 biolink:NamedThing endometrial small cell carcinoma A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically. phenio_relaxed_subqs.owl MONDO:0006229 biolink:NamedThing gastric small cell neuroendocrine carcinoma An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells. phenio_relaxed_subqs.owl MONDO:0006265 biolink:NamedThing laryngeal small cell carcinoma A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course. phenio_relaxed_subqs.owl MONDO:0006348 biolink:NamedThing pancreatic small cell neuroendocrine carcinoma An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells. phenio_relaxed_subqs.owl MONDO:0006390 biolink:NamedThing prostate small cell carcinoma A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells. phenio_relaxed_subqs.owl MONDO:0006405 biolink:NamedThing salivary gland small cell carcinoma An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures. phenio_relaxed_subqs.owl MONDO:0006482 biolink:NamedThing ureter small cell carcinoma A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor. phenio_relaxed_subqs.owl NCIT:C3915 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_11010461000119101 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0008524 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334298 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050911 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_209.11 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4138 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_253002004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000092 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334312 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7179 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4148 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334320 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7607 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4154 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334327 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002821 biolink:NamedThing trabecular follicular adenocarcinoma phenio_relaxed_subqs.owl DOID:3964 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334328 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8102 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4160 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334329 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8419 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4161 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334330 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1321862 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5914 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7427 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334353 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003880 biolink:NamedThing ceruminous carcinoma An infiltrating adenocarcinoma derived from ceruminous glands in the external auditory canal. phenio_relaxed_subqs.owl DOID:6446 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4176 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334403 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003741 biolink:NamedThing juvenile type testicular granulosa cell tumor A rare sex cord-stromal tumor that arises from the testis. It is the most frequent congenital testicular neoplasm and is usually diagnosed during the perinatal period. It usually presents as an asymptomatic scrotal or abdominal mass. Morphologically it is characterized by the presence of cysts that are lined by cells resembling granulosa and theca cells. phenio_relaxed_subqs.owl UMLS:C1515285 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6032 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39947 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334416 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021389 biolink:NamedThing neoplasm of aortic body A benign or malignant extra-adrenal parasympathetic paraganglioma that arises from paraganglia adjacent to the base of the heart and great vessels. phenio_relaxed_subqs.owl NCIT:C4217 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334417 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4218 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_127029006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334419 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080347 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4220 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_21851000119103 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000348 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334424 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10047 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009961 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4225 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254731001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0008515 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334426 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10044 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4227 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_403922007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334443 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4360 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004085 biolink:NamedThing choroid epithelioid cell melanoma A epithelioid cell melanoma that involves the optic choroid. phenio_relaxed_subqs.owl MONDO:0004086 biolink:NamedThing ciliary body epithelioid cell melanoma A epithelioid cell melanoma that involves the ciliary body. phenio_relaxed_subqs.owl NCIT:C4236 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334444 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3162 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003746 biolink:NamedThing ciliary body spindle cell melanoma A spindle cell melanoma that involves the ciliary body. phenio_relaxed_subqs.owl NCIT:C4237 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_403923002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000546 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334450 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0044335 biolink:NamedThing benign soft tissue neoplasm A non-metastasizing neoplasm that arises from the soft tissue. phenio_relaxed_subqs.owl MONDO:0001783 biolink:NamedThing endometrial stromal nodule A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia. phenio_relaxed_subqs.owl MONDO:0004482 biolink:NamedThing fibroosseous pseudotumor of the digits A non-neoplastic soft tissue disorder characterized by the localized formation of reactive fibrous and bone tissues. It usually occurs in the subcutaneous tissue of the proximal phalanx. Less frequently, it involves the toe. It presents with swelling and pain of the affected area. The prognosis is excellent. However, incomplete excision may lead to the re-growth of the lesion. phenio_relaxed_subqs.owl MONDO:0006423 biolink:NamedThing soft tissue chondroma A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification. phenio_relaxed_subqs.owl MONDO:0016611 biolink:NamedThing lipoblastoma A lipoma usually occurring in the extremities of young children (usually boys). It is characterized by lobules of adipose tissue, separated by fibrous septa. The adipose tissue is composed of mature adipocytes and lipoblasts. The lipoblasts may be scarce, depending on the age of the patient. phenio_relaxed_subqs.owl MONDO:0020581 biolink:NamedThing benign PEComa A tumor with perivascular epithelioid cell differentiation characterized by the absence of pleomorphism and scarcity or absence of mitotic figures. phenio_relaxed_subqs.owl MONDO:0024715 biolink:NamedThing benign synovial neoplasm A benign neoplasm arising from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath and localized giant cell tumor of tendon sheath. phenio_relaxed_subqs.owl MONDO:0044784 biolink:NamedThing myxoma A benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation. phenio_relaxed_subqs.owl NCIT:C4242 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_92069005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334473 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7014 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7451 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334474 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10184 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4254 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_404058008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334485 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1373 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4262 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721571001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000241 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334495 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002920 biolink:NamedThing malignant ovarian Brenner tumor A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the neoplasm is confined to the ovary, the prognosis is good. phenio_relaxed_subqs.owl DOID:4217 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4270 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000357 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334517 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020513 biolink:NamedThing spermatocytic seminoma A rare variant of seminoma characterized by the presence of three cell types: round cells with eosinophilic cytoplasm, small cells with dark nucleus and a small amount of cytoplasm, and mono-or multinucleated giant cells. The neoplastic cells are not cohesive. There is an edematous stroma present; lymphocytic infiltrates are rarely seen. Most patients are older males. phenio_relaxed_subqs.owl DOID:5834 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7891 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39921 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99865 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334525 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5208 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4291 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334529 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4293 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_PHM biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237250000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:254693 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334532 biolink:NamedThing phenio_relaxed_subqs.owl DOID:467 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4296 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_403968005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334533 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11294 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001165 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015196 biolink:NamedThing vein of Galen aneurysm Vein of Galen aneurysm is a rare formof arteriovenous malformation in which the embryonic precursor to the vein of Galen, a vein at the base of the brain, dilates causing too much blood to rush to the heart. This can lead to rapid heart failure. Other features may include increased head circumference resulting from hydrocephalus, unusually prominent veins on the face and scalp, developmental delay, persistent headache, and other neurological findings. Vein of Galen aneurysm is often recognized on an ultrasound late in pregnancy. In other cases, it is diagnosed after birth. Although the exact cause remains unknown, this condition appears to result from a defect in early fetal development. Treatment is aimed at decreasing the blood flow through the malformation while maximizing the blood supply to the brain. Minimally invasive surgical techniques are preferred, such as endovascular embolization. phenio_relaxed_subqs.owl MONDO:0015405 biolink:NamedThing cerebrofacial arteriovenous metameric syndrome A disorder characterized by vascular malformations that encompasses a spectrum of phenotypic expression involving arteriovenous malformations (AVMs) of the cerebral, orbital, and facial region. phenio_relaxed_subqs.owl MONDO:0015500 biolink:NamedThing facial arteriovenous malformation Facial arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the facial area. Lesions may be asymptomatic or may manifest with pain, ulceration, pulsation, tinnitus, minor bleeding or potentially life-threatening hemorrhage, blurred vision, impaired hearing, headache, paresthesia, enlargement of facial bones with intraosseous lesions, intraosseous hemangiomas, and speech, breathing and swallowing difficulties, as well as neuropathy. phenio_relaxed_subqs.owl MONDO:0019196 biolink:NamedThing Foix-Alajouanine syndrome Foix-Alajouanine syndrome, also called subacute ascending necrotising myelitis, results from chronic congestion of the extrinsic pial veins of the spinal cord and of the intrinsic subpial network. It is characterised by progressive ascending deficit over a period of several months or years. phenio_relaxed_subqs.owl MONDO:0019972 biolink:NamedThing dural sinus malformation phenio_relaxed_subqs.owl NCIT:C2882 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_233982006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334540 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018734 biolink:NamedThing verrucous hemangioma A skin hemangioma characterized by the presence of epidermal hyperplasia. phenio_relaxed_subqs.owl UMLS:CN242156 biolink:NamedThing phenio_relaxed_subqs.owl DOID:470 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4299 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:464318 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334548 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002359 biolink:NamedThing periosteal chondroma A benign neoplasm of bone surface composed of hyaline cartilage. It arises beneath the periosteum and is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification. phenio_relaxed_subqs.owl DOID:2601 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4302 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334549 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5859 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5866 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7357 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334551 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5861 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003898 biolink:NamedThing pediatric myxoid chondrosarcoma A myxoid chondrosarcoma occurring in children. phenio_relaxed_subqs.owl MONDO:0003899 biolink:NamedThing adult myxoid chondrosarcoma A myxoid chondrosarcoma occurring in adults. phenio_relaxed_subqs.owl NCIT:C4303 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_MYCHS biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334552 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006287 biolink:NamedThing malignancy in giant cell tumor of bone A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor). phenio_relaxed_subqs.owl DOID:4719 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4304 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000347 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334554 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003561 biolink:NamedThing malignant giant cell tumor of soft parts An undifferentiated pleomorphic sarcoma characterized by the presence of osteoclast-like giant cells and cellular pleomorphism. phenio_relaxed_subqs.owl DOID:5638 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C8380 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0334556 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002422 biolink:NamedThing adamantinoma A low grade malignant neoplasm arising from the long bones. The tibia is the most frequently affected bone site. Patients present with swelling which may or may not be associated with pain. Morphologically, it is characterized by a biphasic pattern consisting of an epithelial and an osteofibrous component. The vast majority of cases recur if they are not treated with radical surgery. In a minority of cases the tumor may metastasize to other anatomic sites including lymph nodes, lungs, liver, brain, and skeleton. phenio_relaxed_subqs.owl UMLS:C1367554 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2775 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2776 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562741 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D050398 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006469 biolink:NamedThing tibial adamantinoma An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases). phenio_relaxed_subqs.owl NCIT:C7644 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:102660 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_ADMA biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_307609003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:55881 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0338395 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020814 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_192655005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000929 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0338418 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5222 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013233 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35383 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111897007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0338428 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000291 biolink:NamedThing granulomatous amebic encephalitis Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised peple and is very serious. Symptoms include mental status changes, loss of coordination, fever, muscular weakness or partial paralysis affecting one side of the body, double vision, sensitivity to light and other neurologic problems. The diagnosis is difficult and is often made at advanced stages. Tests useful in the diagnosis include brain scans, biopsies, or spinal taps and in disseminated disease, biopsy of the involved sites and testing by the laboratory experts. Early diagnosis is important for the prognosis. No single drug is effective; hence multiple antibiotics are needed for successful treatment. A combination of surgical and medical interventions involving multiple specialty experts is required to prevent death and morbidity in survivors. phenio_relaxed_subqs.owl DOID:0050246 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012651 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_230187000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0338451 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017276 biolink:NamedThing frontotemporal dementia Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy. phenio_relaxed_subqs.owl UMLS:C0520716 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9255 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008436 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D057180 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011842 biolink:NamedThing Grn-related frontotemporal lobar degeneration with Tdp43 inclusions A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31. phenio_relaxed_subqs.owl MONDO:0017160 biolink:NamedThing behavioral variant of frontotemporal dementia Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy. phenio_relaxed_subqs.owl NCIT:C84719 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:282 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0338465 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009684 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537234 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C113397 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_230314007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:71272 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0338488 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016241 biolink:NamedThing alternating hemiplegia of childhood A rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment. phenio_relaxed_subqs.owl DOID:0050635 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000011 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536589 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007087 biolink:NamedThing alternating hemiplegia of childhood 1 Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A2 gene. phenio_relaxed_subqs.owl MONDO:0013900 biolink:NamedThing alternating hemiplegia of childhood 2 Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene. phenio_relaxed_subqs.owl NCIT:C35261 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_104290 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_230466004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2131 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0338503 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060857 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007627 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D025962 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0022349 biolink:NamedThing congenital absence of septum pellucidum The absence of the septum pellucidum is a rare condition that affects the structure of the brain. Specifically, a thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain. When it is missing, symptoms may include learning difficulties, behavioral changes, seizures, and changes in vision. Absence of the septum pellucidum is not typically seen as an isolated finding. Instead, absence of the septum pellucidum is associated with other conditions such as septo-optic dysplasia. Treatment options for the condition vary depending on the underlying disorder. Diagnosis of absence of the septum pellucidum can be made through imaging such as an MRI. Symptoms of absence of the septum pellucidum typically present during childhood, but a diagnosis can also be made before an individual is born (prenatally). If an individual is found to be missing the septum pellucidum, a search for an underlying disorder should be made. phenio_relaxed_subqs.owl MONDO:0043162 biolink:NamedThing pagon stephan syndrome phenio_relaxed_subqs.owl NCIT:C85063 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:182230 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_7611002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3157 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0338508 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0011972 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D029241 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008133 biolink:NamedThing optic atrophy 3 phenio_relaxed_subqs.owl MONDO:0008134 biolink:NamedThing autosomal dominant optic atrophy, classic form One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disc pallor, visual field and color vision defects. phenio_relaxed_subqs.owl MONDO:0012543 biolink:NamedThing optic atrophy 5 phenio_relaxed_subqs.owl MONDO:0014720 biolink:NamedThing autosomal dominant optic atrophy plus syndrome Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness. phenio_relaxed_subqs.owl MONDO:0016646 biolink:NamedThing autosomal dominant optic atrophy and peripheral neuropathy Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance. phenio_relaxed_subqs.owl NCIT:C84577 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_2065009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98672 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0339109 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4356 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_231826004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0339110 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4357 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_231828003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0339116 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10040 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_172.1 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4358 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_231834005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0339534 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110827 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011558 biolink:NamedThing Usher syndrome type 2C A form of Usher syndrome type 2 that features a heterozygous frameshift mutation in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner. phenio_relaxed_subqs.owl NCIT:C126328 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_232058008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:231178 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0339731 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010343 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_193756007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0339765 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021402 biolink:NamedThing polyp of external auditory canal A polyp that involves the external acoustic meatus. phenio_relaxed_subqs.owl NCIT:C4366 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_95211004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0339820 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2163 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004756 biolink:NamedThing nasal cavity neoplasm A benign or malignant neoplasm that affects the nasal cavity. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. phenio_relaxed_subqs.owl MONDO:0012155 biolink:NamedThing choanal atresia Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction. phenio_relaxed_subqs.owl NCIT:C27102 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_232340005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0339826 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003753 biolink:NamedThing nasal vestibule squamous papilloma A benign exophytic squamous cell neoplasm with papillary growth that arises from the nasal vestibule. phenio_relaxed_subqs.owl DOID:6059 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4369 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_232364006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0339880 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015396 biolink:NamedThing congenital laryngeal cyst Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia. phenio_relaxed_subqs.owl OBO:SCTID_765763007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:141124 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0339904 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002047 biolink:NamedThing pulmonary systemic sclerosis phenio_relaxed_subqs.owl DOID:1578 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_517.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_196133001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0339946 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2122 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_021.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_45556008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0339959 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0040083 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_483.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D061387 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_233609002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0340035 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002981 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536286 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:242670 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_233664005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0340038 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001360 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562757 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:215518 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_233667003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0340504 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562759 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:113950 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_233919006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0340756 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017864 biolink:NamedThing congenital pulmonary veins atresia or stenosis Congenital pulmonary vein (PV) stenosis or atresia is a rare progressive life-threatening great vessels anomaly characterized by narrowing and obstruction of one or more normally positioned PV at their junction with the left atrium, that usually presents during early infancy with dyspnea, tachypnea, and repeated pulmonary infections, and eventually, when all PV of one lung are affected, results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects. phenio_relaxed_subqs.owl OBO:GARD_0004598 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234062003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3188 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0340834 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016256 biolink:NamedThing Hennekam syndrome Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism. phenio_relaxed_subqs.owl DOID:0060366 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003318 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009337 biolink:NamedThing Hennekam lymphangiectasia-lymphedema syndrome 1 Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene. phenio_relaxed_subqs.owl MONDO:0014454 biolink:NamedThing Hennekam lymphangiectasia-lymphedema syndrome 2 Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene. phenio_relaxed_subqs.owl MONDO:0032564 biolink:NamedThing hennekam lymphangiectasia-lymphedema syndrome 3 phenio_relaxed_subqs.owl OBO:OMIMPS_235510 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234146006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2136 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0340961 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020338 biolink:NamedThing adult pure red cell aplasia Adult pure red cell aplasia is a rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms. phenio_relaxed_subqs.owl OBO:GARD_0010898 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C70548 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_765748009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98872 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0340968 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009950 biolink:NamedThing pyruvate kinase deficiency of red cells Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia. phenio_relaxed_subqs.owl DOID:0111077 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007514 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564858 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C99037 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:266200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_124331002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:766 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0341109 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001649 biolink:NamedThing fungal esophagitis Infection of the esophagus caused by fungi, most often candida albicans and candida tropicalis. It usually affects patients with immunodeficiency disorders or diabetes mellitus. Symptoms include dysphagia and pain on swallowing. phenio_relaxed_subqs.owl DOID:13147 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27107 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_235602008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0341137 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562765 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:133240 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_235623002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0341299 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D064068 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C45426 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_61738006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0341702 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C78296 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_236467001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0341733 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0030706 biolink:NamedThing Trichomonas cystitis An cystitis caused by infection with Trichomonas vaginalis. phenio_relaxed_subqs.owl NCIT:C35405 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_197850006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0341755 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_197967000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0341769 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35406 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0341782 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_236772009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0341811 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237038001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0341823 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002229 biolink:NamedThing ovarian epithelial tumor A benign, borderline, or malignant tumor that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples of benign tumors include serous cystadenoma, mucinous cystadenoma, and benign Brenner tumor. Representative examples of borderline tumors include serous surface papillary tumor, mucinous adenofibroma, and borderline Brenner tumor. Representative examples of malignant tumors include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, and malignant Brenner tumor. phenio_relaxed_subqs.owl DOID:2152 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002370 biolink:NamedThing ovarian Brenner tumor A benign, borderline, or malignant transitional cell neoplasm arising from the ovary. It constitutes between 1% and 2% of all ovarian neoplasms. The average age at presentation is about 50 years. Grossly it is usually unilateral, firm and white or yellowish. Microscopically it consists of solid and cystic nests of epithelial cells resembling transitional epithelium surrounded by an abundant stromal component of dense, fibroblastic nature. phenio_relaxed_subqs.owl MONDO:0003495 biolink:NamedThing ovarian squamous cell neoplasm A squamous cell tumor that arises from the ovary and is not associated with a germ cell tumor. phenio_relaxed_subqs.owl MONDO:0003756 biolink:NamedThing ovarian mucinous neoplasm A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. phenio_relaxed_subqs.owl MONDO:0003811 biolink:NamedThing ovarian seromucinous tumor A benign, borderline, or malignant mixed epithelial tumor of the ovary. It is characterized by the presence of more than one epithelial cell type, most often serous and endocervical-type mucinous. phenio_relaxed_subqs.owl MONDO:0003813 biolink:NamedThing ovarian papillary tumor A benign, borderline, or malignant epithelial tumor that arises from the ovary and is characterized by the presence of papillary proliferations. Representative examples include surface papilloma, borderline serous surface papillary tumor, and serous surface papillary adenocarcinoma. phenio_relaxed_subqs.owl MONDO:0003887 biolink:NamedThing ovarian mucinous adenofibroma A benign neoplasm of the ovary characterized by the presence of glands with mucinous columnar epithelial cells in a fibrotic stroma. phenio_relaxed_subqs.owl MONDO:0005179 biolink:NamedThing ovarian adenoma benign A benign adenoma of ovary phenio_relaxed_subqs.owl MONDO:0016093 biolink:NamedThing borderline epithelial tumor of ovary A low grade epithelial tumor arising from the ovary. It is characterized by an atypical proliferation of epithelial cells. There is no evidence of stromal invasion. phenio_relaxed_subqs.owl MONDO:0018364 biolink:NamedThing malignant epithelial tumor of ovary An invasive malignant tumor that originates from the surface epithelium of the ovary. It is composed of malignant epithelial cells and stroma. Representative examples include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, clear cell adenocarcinoma, and malignant Brenner tumor. phenio_relaxed_subqs.owl MONDO:0021144 biolink:NamedThing ovarian clear cell tumor A benign, borderline, or malignant epithelial tumor of the ovary that is characterized by a predominance of clear and hobnail cells. phenio_relaxed_subqs.owl MONDO:0037255 biolink:NamedThing ovarian serous tumor A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that, in well differentiated tumors, resemble the epithelial cells of the fallopian tube and, in poorly differentiated tumors, show anaplastic features. Approximately thirty to fifty percent of the tumors are bilateral. Grossly, the better differentiated tumors consist of cystic masses, usually unilocular, containing a clear but sometimes viscous fluid. Papillary formations are often present. The more malignant tumors tend to be solid and invasive, with areas of necrosis and hemorrhage. phenio_relaxed_subqs.owl NCIT:C4381 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_OVT biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237057005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342127 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001252 biolink:NamedThing Plummer disease Nodular enlargement of the thyroid gland associated with hyperthyroidism. phenio_relaxed_subqs.owl DOID:11277 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_242.30 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35171 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_57777000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009191 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342190 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C46100 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000147 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342194 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562769 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:274700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_23536000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342195 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562770 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:274800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_17885001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342196 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562771 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:274900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_63127008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342208 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050489 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010290 biolink:NamedThing goiter, multinodular 2 phenio_relaxed_subqs.owl MONDO:0011635 biolink:NamedThing goiter, multinodular 3 phenio_relaxed_subqs.owl NCIT:C131438 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_138800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237570007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342276 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050524 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003697 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562772 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C114769 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606391 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_609561005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:552 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342280 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008509 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537427 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:207780 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237610008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1133 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342283 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562776 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616214 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237613005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342284 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008874 biolink:NamedThing Bangstad syndrome Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989. phenio_relaxed_subqs.owl OBO:GARD_0000812 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537902 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:210740 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237614004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1227 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342286 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005592 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536742 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:241080 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237616002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3464 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342289 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4330695 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004003 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536246 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131859 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:520000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237619009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:225 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342337 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2298 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342388 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008720 biolink:NamedThing congenital isolated adrenocorticotropic hormone deficiency A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland. phenio_relaxed_subqs.owl DOID:0080150 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005727 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535668 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:201400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237692001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001979 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:199296 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342405 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1130 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27117 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_95830009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342409 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000072659 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019835 biolink:NamedThing primary hypophysitis Immune-mediated inflammation of the pituitary gland often associated with other autoimmune diseases (e.g., hashimoto disease; graves disease; and addison disease). phenio_relaxed_subqs.owl MONDO:0023282 biolink:NamedThing granulomatous hypophysitis Granulomatous hypophysitis is rare pathology that mimics pituitary adenoma. phenio_relaxed_subqs.owl NCIT:C12399 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237705001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342442 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3946 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E24.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D047748 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020527 biolink:NamedThing ectopic Cushing syndrome Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor. phenio_relaxed_subqs.owl OBO:SCTID_190502001 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237734007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001110 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99892 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342467 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537877 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131442 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342474 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001465 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017972 biolink:NamedThing classic congenital lipoid adrenal hyperplasia due to STAR deficency phenio_relaxed_subqs.owl MONDO:0017973 biolink:NamedThing non-classic congenital lipoid adrenal hyperplasia due to STAR deficency phenio_relaxed_subqs.owl OMIM:201710 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_44231009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90790 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342482 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080156 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000555 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008732 biolink:NamedThing adrenal hypoplasia, cytomegalic type phenio_relaxed_subqs.owl NCIT:C123725 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_93235007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:95702 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342488 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006657 biolink:NamedThing apparent mineralocorticoid excess syndrome An autosomal recessive disorder caused by a deficiency of 11-beta-hydroxysteroid dehydrogenase, which is characterized by hypertension, hypokalemia, low renin, and hypoaldosteronism. phenio_relaxed_subqs.owl DOID:4367 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D043204 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C123231 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237770005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000817 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342508 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237790001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342515 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207443 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237795006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99916 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342543 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562787 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008302 biolink:NamedThing centra precocious puberty 1 Any central precocious puberty in which the cause of the disease is a mutation in the KISS1R gene. phenio_relaxed_subqs.owl MONDO:0014137 biolink:NamedThing precocious puberty, central, 2 Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene. phenio_relaxed_subqs.owl MONDO:0015713 biolink:NamedThing idiopathic central precocious puberty phenio_relaxed_subqs.owl MONDO:0015714 biolink:NamedThing secondary central precocious puberty phenio_relaxed_subqs.owl OBO:OMIMPS_176400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237816004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:759 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342544 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C120372 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237817008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:169615 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342552 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060005 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016264 biolink:NamedThing autoimmune hepatitis Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma. phenio_relaxed_subqs.owl MONDO:0018465 biolink:NamedThing insulin autoimmune syndrome Insulin autoimmune syndrome is a rare condition that causes low blood sugar (hypoglycemia). This occurs because the body begins to make a specific kind of protein called antibodies to attack insulin. Insulin is a naturally occurring hormone that is responsible for keeping blood sugar at a normal level. When blood sugar levels get too high, insulin helps to store the sugar for future use. People affected by insulin autoimmune syndrome have antibodies that attack insulin, causing it to work too hard and the level of blood sugar to become too low. Insulin autoimmune syndrome most often begins during adulthood. phenio_relaxed_subqs.owl OBO:SCTID_237822008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342569 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0041167 biolink:NamedThing carcinoid crisis A life-threatening complication of carcinoid syndrome, and is generally found in people who already have carcinoid syndrome. The crisis may occur suddenly, or it can be associated with stress, chemotherapy, or anesthesia. phenio_relaxed_subqs.owl OBO:SCTID_237833006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342623 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204235 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237877004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:330001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342637 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1809471 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060699 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010828 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007791 biolink:NamedThing familial hypocalciuric hypercalcemia 1 Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene. phenio_relaxed_subqs.owl MONDO:0007792 biolink:NamedThing familial hypocalciuric hypercalcemia 2 A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13. phenio_relaxed_subqs.owl MONDO:0010926 biolink:NamedThing familial hypocalciuric hypercalcemia 3 Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene. phenio_relaxed_subqs.owl NCIT:C123262 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_145980 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237885008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:405 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342642 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050948 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562791 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:193100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237889002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:89937 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342643 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009430 biolink:NamedThing hypophosphatemic rickets, autosomal recessive, 1 Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene. phenio_relaxed_subqs.owl OBO:MESH_C562792 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:241520 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342646 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010186 biolink:NamedThing vitamin D-dependent rickets, type 2A Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia. phenio_relaxed_subqs.owl NCIT:C131075 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:277440 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237894002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342666 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017352 biolink:NamedThing disorder of glutamine metabolism phenio_relaxed_subqs.owl MONDO:0017684 biolink:NamedThing disorder of beta and omega amino acid metabolism phenio_relaxed_subqs.owl MONDO:0018134 biolink:NamedThing disorder of melanin metabolism phenio_relaxed_subqs.owl MONDO:0018318 biolink:NamedThing disorder of asparagine metabolism phenio_relaxed_subqs.owl MONDO:0019230 biolink:NamedThing inborn disorder of ornithine or proline metabolism phenio_relaxed_subqs.owl MONDO:0019232 biolink:NamedThing inborn disorder of peptide metabolism phenio_relaxed_subqs.owl MONDO:0019235 biolink:NamedThing inborn disorder of phenylalanin or tyrosine metabolism phenio_relaxed_subqs.owl OBO:SCTID_237911005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79062 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342669 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012393 biolink:NamedThing congenital brain dysgenesis due to glutamine synthetase deficiency phenio_relaxed_subqs.owl MONDO:0600001 biolink:NamedThing glutaminase deficiency Glutaminase deficiency is characterized by refractory seizures, respiratory failure, brain abnormalities and death in the neonatal period, though milder cases with spastic ataxia-dysarthria have also been reported. This condition is caused by mutations in the glutaminase (GLS) gene. phenio_relaxed_subqs.owl OBO:SCTID_190724004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:289841 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342676 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0100184 biolink:NamedThing GTP cyclohydrolase I deficiency A disease characterized by a deficiency in GTP cyclohydrolase I, which leads to a consequent reduction in BH4 and reduces the activity of three BH4-cofactor dependent enzymes - phenylalanine hydroxylase, tyrosine hydroxylase, and tryptophan hydroxylase. GTP cyclohydrolase I deficiency encompasses a spectrum of disease that includes autosomal dominant and autosomal recessive forms, with severity correlating with the residual enzyme activity. Individuals who are heterozygous for pathogenic variants in GCH1 have symptoms ranging from none (due to reduced penetrance) to dopa-responsive dystonia, which is the most common presentation in symptomatic cases, to rarer neurological presentations such as adult-onset "benign" parkinsonism, various types of focal dystonia, and symptoms simulating cerebral palsy or spastic paraplegia. Hyperphenylalaninemia is absent, and patients respond well to treatment with levodopa. Individuals who are homozygous or compound heterozygous for pathogenic variants in GCH1 typically present with hyperphenylalaninemia, often identified by newborn screening, and severe neurological features and due to very low or undetectable enzyme activity. Treatment with levodopa, BH4, and 5-hydroxytryptophan can improve the symptoms but does not prevent development of severe encephalopathy. Rare cases of GTP cyclohydrolase I deficiency with a phenotype that is intermediate in severity between dopa-responsive dystonia and the severe autosomal recessive form have also been described, supporting the existence a phenotypic spectrum of disease. phenio_relaxed_subqs.owl OBO:SCTID_237913008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342684 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021019 biolink:NamedThing X-linked recessive ocular albinism X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males. phenio_relaxed_subqs.owl OBO:GARD_0008471 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537863 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C118785 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_78642008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:54 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342685 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017759 biolink:NamedThing disorder of catecholamine synthesis phenio_relaxed_subqs.owl MONDO:0009123 biolink:NamedThing dopamine beta-hydroxylase deficiency Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension. phenio_relaxed_subqs.owl MONDO:0012084 biolink:NamedThing aromatic L-amino acid decarboxylase deficiency Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction. phenio_relaxed_subqs.owl OBO:SCTID_237921002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309830 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342687 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090145 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001903 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535600 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:223360 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237923004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:230 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342690 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0034104 biolink:NamedThing global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome phenio_relaxed_subqs.owl MONDO:0100126 biolink:NamedThing P5CS deficiency An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy. phenio_relaxed_subqs.owl OBO:SCTID_237928008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:289869 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342700 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008659 biolink:NamedThing transcobalamin I deficiency phenio_relaxed_subqs.owl OBO:GARD_0005239 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562798 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:193090 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237933007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2967 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342701 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010149 biolink:NamedThing transcobalamin II deficiency Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia. phenio_relaxed_subqs.owl DOID:0050818 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012338 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_D51.2 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C142806 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:275350 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237934001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:859 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342705 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009238 biolink:NamedThing hereditary folate malabsorption Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders. phenio_relaxed_subqs.owl DOID:0111678 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012983 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562799 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:229050 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_62578003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90045 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342707 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013166 biolink:NamedThing GABA aminotransferase deficiency Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration. phenio_relaxed_subqs.owl OBO:SCTID_237940008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:308407 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342708 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060174 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000194 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535407 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613163 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237941007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2066 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342712 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013579 biolink:NamedThing methylmalonate semialdehyde dehydrogenase deficiency phenio_relaxed_subqs.owl MONDO:0100058 biolink:NamedThing hypervalinemia and hyperleucine-isoleucinemia Elevated levels of plasma valine and leucine/isoleucine levels, associated with symptoms of headache and mild memory loss and attributed to biallelic variants in the BCAT2 gene. BCAT2 encodes branched-chain aminotransferase 2 which catalyzes the transamination of the branched chain amino acids to their respective α-keto acids. phenio_relaxed_subqs.owl OBO:SCTID_116020001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79197 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342721 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009613 biolink:NamedThing vitamin B12-responsive methylmalonic acidemia type cblA An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein. phenio_relaxed_subqs.owl UMLS:C0342722 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855109 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060742 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005500 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C142171 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:251100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_73843004 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_82245003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79310 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342727 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009610 biolink:NamedThing 3-methylglutaconic aciduria type 1 3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia. phenio_relaxed_subqs.owl UMLS:C0342728 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110002 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010321 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562801 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C98683 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:250950 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237951008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:67046 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342735 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009154 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536005 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614055 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342737 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009371 biolink:NamedThing 3-hydroxyisobutyric aciduria 3 hydroxyisobutyric aciduria is characterised by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive. phenio_relaxed_subqs.owl OBO:GARD_0005662 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535312 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:236795 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237957007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:939 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342739 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011182 biolink:NamedThing trimethylaminuria A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals. phenio_relaxed_subqs.owl MONDO:0018767 biolink:NamedThing severe primary trimethylaminuria Any trimethylaminuria in which the cause of the disease is a mutation in the FMO3 gene. phenio_relaxed_subqs.owl MONDO:0100041 biolink:NamedThing secondary trimethylaminuria A type of trimethylaminuria that occurs as the result of treatment with large doses of dietary precursors of the offending chemical. Symptoms develop when the ability of the liver enzyme (flavin-containing monooxygenase 3) is insufficient to break down (metabolize) the excess trimethylamine. phenio_relaxed_subqs.owl OBO:SCTID_237959005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:35056 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342744 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017689 biolink:NamedThing disorder of fructose metabolism phenio_relaxed_subqs.owl MONDO:0021759 biolink:NamedThing acquired fructose intolerance Acquired fructose intolerance is a condition in which the body can not properly absorb the sugar, fructose. As a result, affected people may experience gastrointestinal symptoms, such as gas, abdominal pain, bloating and/or diarrhea, depending on the quantity of fructose consumed and the presence of other sugars ingested with it. Gastrointestinal symptoms related to acquired fructose intolerance appear to be more common in people who have an underlying functional bowel disorder such as irritable bowel syndrome. The underlying cause of the condition is poorly understood. It is distinct from the rare, genetic form of fructose intolerance (called hereditary fructose intolerance), which usually develops earlier in life and often affects more than one family member. Acquired fructose intolerance is generally managed with dietary modifications. phenio_relaxed_subqs.owl OBO:SCTID_39452003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:308463 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342745 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017690 biolink:NamedThing disorder of galactose metabolism phenio_relaxed_subqs.owl OBO:SCTID_237963003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:308467 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342748 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855861 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002513 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002889 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565485 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:240600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237964009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2089 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342749 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009288 biolink:NamedThing glycogen storage disease Ib A type of glycogenosis due to G6P deficiency. phenio_relaxed_subqs.owl OBO:GARD_0002515 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562594 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C122661 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:232220 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:232240 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237965005 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_30102006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79259 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342753 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3888925 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722343009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:420429 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342762 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237977000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342765 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1291386 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111626 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000234 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535767 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128804 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:220120 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237980004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:941 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342784 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060067 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007343 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C115326 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:557000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237985009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:699 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342788 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008919 biolink:NamedThing systemic primary carnitine deficiency disease Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma. phenio_relaxed_subqs.owl DOID:14365 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005104 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536778 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C98864 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:212140 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_21764004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:158 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342790 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015515 biolink:NamedThing carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form. phenio_relaxed_subqs.owl DOID:0060235 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001121 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535589 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009704 biolink:NamedThing carnitine palmitoyl transferase II deficiency, myopathic form The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency. phenio_relaxed_subqs.owl MONDO:0010914 biolink:NamedThing carnitine palmitoyl transferase II deficiency, severe infantile form The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease. phenio_relaxed_subqs.owl MONDO:0012136 biolink:NamedThing carnitine palmitoyl transferase II deficiency, neonatal form The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure. phenio_relaxed_subqs.owl NCIT:C114766 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238002005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:157 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342791 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008918 biolink:NamedThing carnitine-acylcarnitine translocase deficiency Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy. phenio_relaxed_subqs.owl DOID:0111585 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001123 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562812 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C133086 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:212138 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238003000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:159 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342793 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003371 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535702 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:248360 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_361203007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:943 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564127 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129974 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613850 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238011005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:319684 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342825 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238032002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342829 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011217 biolink:NamedThing desmosterolosis Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol. phenio_relaxed_subqs.owl MONDO:0011816 biolink:NamedThing lathosterolosis Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease. phenio_relaxed_subqs.owl OBO:SCTID_238036004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342844 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014109 biolink:NamedThing NGLY1-deficiency A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities. phenio_relaxed_subqs.owl OBO:SCTID_238045003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342851 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010028 biolink:NamedThing sialuria Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood. phenio_relaxed_subqs.owl OBO:SCTID_238050009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309319 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342870 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009855 biolink:NamedThing d-bifunctional protein deficiency A genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease. phenio_relaxed_subqs.owl UMLS:C1533628 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203333 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090031 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004539 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C119676 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:261515 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238068007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342873 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012469 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562818 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:231690 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238070003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:35706 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342877 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_123963007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342883 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007744 biolink:NamedThing cholesterol-ester transfer protein deficiency phenio_relaxed_subqs.owl MONDO:0013533 biolink:NamedThing hyperlipidemia due to hepatic triglyceride lipase deficiency Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated. phenio_relaxed_subqs.owl NCIT:C128806 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238080004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:181428 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342895 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006450 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:136120 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238092004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79292 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0342907 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008863 biolink:NamedThing sitosterolemia A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes. phenio_relaxed_subqs.owl DOID:0090019 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007653 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537345 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020747 biolink:NamedThing sitosterolemia 1 phenio_relaxed_subqs.owl MONDO:0020748 biolink:NamedThing sitosterolemia 2 phenio_relaxed_subqs.owl NCIT:C125694 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_210250 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_215250 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238104009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101022 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2882 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0343047 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8158 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006878 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C9469 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609536 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0343068 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018768 biolink:NamedThing familial cold autoinflammatory syndrome Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia. phenio_relaxed_subqs.owl UMLS:CN230757 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090061 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009535 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007349 biolink:NamedThing familial cold autoinflammatory syndrome 1 Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene. phenio_relaxed_subqs.owl MONDO:0012724 biolink:NamedThing familial cold autoinflammatory syndrome 2 An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month. phenio_relaxed_subqs.owl MONDO:0013766 biolink:NamedThing familial cold autoinflammatory syndrome 3 PLCG2-associated antibody deficiency and immune dysregulation is a rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease. phenio_relaxed_subqs.owl MONDO:0014498 biolink:NamedThing familial cold autoinflammatory syndrome 4 Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene. phenio_relaxed_subqs.owl NCIT:C119053 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_120100 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:47045 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0343079 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562823 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:157400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238749001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0343081 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0040099 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012784 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_L95.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238762002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:542643 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0343082 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2495 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4390 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_5050001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0343084 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001084 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D019559 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C62578 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_87730004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:188 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0343090 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015408 biolink:NamedThing diffuse lymphatic malformation phenio_relaxed_subqs.owl OBO:SCTID_703298001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:141209 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0343108 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002347 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537066 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:136300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_239056006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2047 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0343111 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111528 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003912 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538331 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:161000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_239084001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:69087 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0343114 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019311 biolink:NamedThing woolly hair nevus Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi. phenio_relaxed_subqs.owl OBO:SCTID_239124001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79414 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0343190 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018592 biolink:NamedThing cutaneous polyarteritis nodosa Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy. phenio_relaxed_subqs.owl UMLS:CN242143 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007415 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C117295 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_239926000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:439729 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0343206 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018227 biolink:NamedThing hypocomplementemic urticarial vasculitis Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations. phenio_relaxed_subqs.owl UMLS:CN204757 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006725 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_239945009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:36412 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0343312 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13521 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A33 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_771.3 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C116814 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_43424001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0343398 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4274225 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12750 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009528 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A07.4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D021866 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128409 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_240372001 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716860005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007230 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:210 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0343528 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050150 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128335 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_240447002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99748 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0343532 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_240451000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99918 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0343560 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000045 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C116800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_277644009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:291 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0343633 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050197 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_240524001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:319239 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0343641 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005161 biolink:NamedThing human papilloma virus infection An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth. phenio_relaxed_subqs.owl OBO:ICD9_079.4 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27851 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_240532009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0001668 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0343755 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D019247 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007312 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90081 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0343833 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_88037009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0343875 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C116811 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_276672007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0343939 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000306 biolink:NamedThing trichosporonosis Fungal infections caused by trichosporon that may become systemic especially in an immunocompromised host. Clinical manifestations range from superficial cutaneous infections to systemic lesions in multiple organs. phenio_relaxed_subqs.owl DOID:0050290 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D060586 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_240761008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0343952 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D060605 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_240773008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0343965 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050278 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0045038 biolink:NamedThing cutaneous basidiobolomycosis phenio_relaxed_subqs.owl MONDO:0045039 biolink:NamedThing systemic basidiobolomycosis phenio_relaxed_subqs.owl OBO:SCTID_4921002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0343967 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_240787008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0344058 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050261 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_46477004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0344061 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B87.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_240880004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:165955 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0344456 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003606 biolink:NamedThing adrenal medulla cancer A malignant neoplasm involving the adrenal medulla phenio_relaxed_subqs.owl DOID:5719 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005755 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004202 biolink:NamedThing adrenal medulla carcinoma A carcinoma that arises from epithelial cells of the adrenal medulla phenio_relaxed_subqs.owl MONDO:0006076 biolink:NamedThing adrenal gland neuroblastoma A neuroblastoma arising from the adrenal gland. phenio_relaxed_subqs.owl NCIT:C4396 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_371965009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0344963 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070315 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002922 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_Q22.6 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009931 biolink:NamedThing pulmonary atresia-intact ventricular septum syndrome Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation. phenio_relaxed_subqs.owl NCIT:C99053 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_268180007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98723 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0344975 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562832 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C99032 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:265150 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_253590009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1208 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0344976 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004588 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562833 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C99033 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:178370 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_253591008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1207 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0345424 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562838 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:120450 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254219004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0345630 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9310 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001128 biolink:NamedThing nasal cavity cancer A malignant neoplasm involving the nasal cavity phenio_relaxed_subqs.owl MONDO:0021475 biolink:NamedThing benign neoplasm of nasal cavity A benign neoplasm that involves the nasal cavity. phenio_relaxed_subqs.owl NCIT:C4413 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_126670003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0345666 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004457 biolink:NamedThing maxillary sinus Schneiderian papilloma A papilloma that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It is classified as inverted papilloma and oncocytic papilloma. phenio_relaxed_subqs.owl NCIT:C4414 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_92211008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0345668 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1364 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004014 biolink:NamedThing ethmoid sinus ectopic meningioma An extremely rare meningioma that arises as a primary ectopic tumor in the ethmoid sinus. phenio_relaxed_subqs.owl MONDO:0021515 biolink:NamedThing benign neoplasm of ethmoidal sinus A benign neoplasm that involves the ethmoid sinus. phenio_relaxed_subqs.owl NCIT:C4416 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_126677000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0345670 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003923 biolink:NamedThing ethmoid sinus Schneiderian papilloma A papilloma that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It is classified as inverted papilloma and oncocytic papilloma. phenio_relaxed_subqs.owl NCIT:C4417 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_92093000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0345672 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1361 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021483 biolink:NamedThing benign neoplasm of frontal sinus A benign neoplasm that involves the frontal sinus. phenio_relaxed_subqs.owl NCIT:C4419 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_126678005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0345674 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003752 biolink:NamedThing frontal sinus Schneiderian papilloma A papilloma that arises from the ciliated respiratory mucosa that lines the frontal sinus. It is classified as inverted papilloma and oncocytic papilloma. phenio_relaxed_subqs.owl NCIT:C4420 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_92115005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0345676 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6947 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021477 biolink:NamedThing benign neoplasm of sphenoidal sinus A non-metastasizing neoplasm that arises from the sphenoid sinus. phenio_relaxed_subqs.owl NCIT:C6792 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_126679002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0345678 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004327 biolink:NamedThing sphenoid sinus Schneiderian papilloma A papilloma that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It is classified as inverted papilloma and oncocytic papilloma. phenio_relaxed_subqs.owl NCIT:C4422 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_92404006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0345891 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015185 biolink:NamedThing intestinal polyposis syndrome phenio_relaxed_subqs.owl UMLS:CN197525 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008278 biolink:NamedThing juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome phenio_relaxed_subqs.owl MONDO:0011023 biolink:NamedThing hereditary mixed polyposis syndrome Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated. phenio_relaxed_subqs.owl MONDO:0015524 biolink:NamedThing hyperplastic polyposis syndrome Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer. phenio_relaxed_subqs.owl MONDO:0017380 biolink:NamedThing juvenile polyposis syndrome Juvenile gastrointestinal polyposis (JIP) is a rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract. phenio_relaxed_subqs.owl MONDO:0021057 biolink:NamedThing classic or attenuated familial adenomatous polyposis An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP. phenio_relaxed_subqs.owl NCIT:C155954 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254589009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:104010 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0345893 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003065 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019190 biolink:NamedThing juvenile polyposis of infancy Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life. phenio_relaxed_subqs.owl NCIT:C7754 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:174900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_9273005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2929 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0345912 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080640 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003297 biolink:NamedThing gallbladder leiomyoma A benign smooth muscle neoplasm arising from the gallbladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. phenio_relaxed_subqs.owl NCIT:C4440 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_92117002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0345982 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5585 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003090 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536150 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4461 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:132800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254659009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:65748 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346010 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050676 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002322 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D058249 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C28244 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:135150 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_110985001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001273 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:122 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346037 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6367 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009570 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4022 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_ACRM biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254732008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346054 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003640 biolink:NamedThing verruciform xanthoma of skin A rare, benign wart-like skin lesion of unknown etiology that is usually found in the genital or perianal area and consists of hyperkeratosis and aggregates of foam cell macrophages. phenio_relaxed_subqs.owl DOID:5769 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4478 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254756007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346068 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0011892 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4485 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254774003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:53721 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346072 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005940 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536240 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4486 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:112200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254784002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1059 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346073 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011927 biolink:NamedThing tufted angioma Tufted angioma is a very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood. phenio_relaxed_subqs.owl OBO:GARD_0000425 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536924 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4487 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607859 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_705155008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1063 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346076 biolink:NamedThing phenio_relaxed_subqs.owl DOID:505 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27506 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254790003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346153 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562840 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4503 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:114480 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254843006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:227535 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346163 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006335 biolink:NamedThing ovarian endometrioid adenocarcinoma An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma. phenio_relaxed_subqs.owl DOID:5828 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006336 biolink:NamedThing ovarian endometrioid adenocarcinoma with squamous differentiation An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance. phenio_relaxed_subqs.owl NCIT:C7979 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_EOV biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254852002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000416 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:454723 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346164 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000548 biolink:NamedThing ovarian clear cell cancer An invasive malignant neoplasm that arises from the ovary and is characterized by a predominance of clear and hobnail malignant epithelial cells. phenio_relaxed_subqs.owl NCIT:C40076 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_CCOV biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346166 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6211 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004032 biolink:NamedThing ovarian seromucinous carcinoma A malignant mixed epithelial neoplasm that arises from the ovary and is composed predominantly of serous and endocervical-type mucinous epithelium. phenio_relaxed_subqs.owl NCIT:C4508 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254855000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000425 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346167 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006477 biolink:NamedThing undifferentiated ovarian carcinoma An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor. phenio_relaxed_subqs.owl NCIT:C4509 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254856004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000605 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346169 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005183 biolink:NamedThing ovarian cystadenoma A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells. phenio_relaxed_subqs.owl DOID:3269 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002583 biolink:NamedThing mucinous ovarian cystadenoma A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells. phenio_relaxed_subqs.owl MONDO:0003610 biolink:NamedThing rete ovarii cystadenoma An exceptionally rare cystadenoma that arises from the rete ovarii. phenio_relaxed_subqs.owl MONDO:0003872 biolink:NamedThing ovarian papillary cystadenoma A serous cystadenoma of the ovary characterized by the presence of small papillary projections in the inner surface of the cysts. phenio_relaxed_subqs.owl MONDO:0004136 biolink:NamedThing ovarian endometrioid cystadenoma A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells. phenio_relaxed_subqs.owl NCIT:C4060 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_198297004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0002511 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346172 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3267 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4512 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_119422004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346175 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020541 biolink:NamedThing maligant granulosa cell tumor of ovary An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites. phenio_relaxed_subqs.owl UMLS:CN207442 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008642 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C8403 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254861002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99915 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346180 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2155 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003408 biolink:NamedThing ovarian primitive germ cell tumor A malignant tumor that arises from the ovary and is characterized by the presence of malignant germ cell components but lacks a teratoma component. phenio_relaxed_subqs.owl MONDO:0003507 biolink:NamedThing choriocarcinoma of ovary A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma. phenio_relaxed_subqs.owl MONDO:0017327 biolink:NamedThing primary non-gestational choriocarcinoma of ovary Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor, arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma and hence should be distinguished from the latter by DNA polymorphism. phenio_relaxed_subqs.owl MONDO:0020538 biolink:NamedThing malignant dysgerminomatous germ cell tumor of ovary Malignant dysgerminomatous germ cell tumor of ovary is the most common form of malignant germ cell tumor of ovary, arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts). Malignant dysgerminomatous germ cell tumor of ovary responds well to chemotherapy, potentially sparing patients from infertility and early mortality. phenio_relaxed_subqs.owl NCIT:C4514 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254869000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:35807 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346181 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5550 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004294 biolink:NamedThing gestational ovarian choriocarcinoma A rare malignant trophoblastic tumor that arises from the ovary as a result of ectopic ovarian pregnancy. There is no germ cell component present. phenio_relaxed_subqs.owl MONDO:0004322 biolink:NamedThing non-gestational ovarian choriocarcinoma A malignant germ cell tumor that arises from the ovary and is composed of cytotrophoblasts, syncytiotrophoblasts, and extravillous trophoblasts. The prognosis is less favorable than gestational choriocarcinoma. phenio_relaxed_subqs.owl MONDO:0004535 biolink:NamedThing childhood choriocarcinoma of the ovary A non-gestational choriocarcinoma that arises from the ovary and occurs in children. phenio_relaxed_subqs.owl NCIT:C4515 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254870004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000413 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346182 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018369 biolink:NamedThing immature ovarian teratoma A malignant germ cell tumor arising from the ovary. It usually affects females in their first two decades of life. It contains variable amounts of immature embryonal tissues. Based on the amount of immature neuroepithelial component, immature teratomas are graded from 1 to 3. The stage and grade of the tumor and the grade of the metastatic tumor are the important factors that predict prognosis. The use of cisplatin-based combination chemotherapy has significantly improved the survival rates of the patients. phenio_relaxed_subqs.owl UMLS:CN205036 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6331 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004082 biolink:NamedThing childhood immature teratoma of ovary An immature teratoma that arises from the ovary and occurs in children. phenio_relaxed_subqs.owl NCIT:C8111 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_OIMT biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254871000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:398987 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346183 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003581 biolink:NamedThing ovarian embryonal carcinoma An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain. phenio_relaxed_subqs.owl DOID:5681 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004441 biolink:NamedThing childhood ovarian embryonal carcinoma An embryonal carcinoma that arises from the ovary and occurs in children. phenio_relaxed_subqs.owl NCIT:C8108 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_OEC biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254872007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000415 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346185 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003481 biolink:NamedThing dysgerminoma of ovary A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage. phenio_relaxed_subqs.owl DOID:5511 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004193 biolink:NamedThing pediatric ovarian dysgerminoma A dysgerminoma that arises from the ovary and occurs in children. phenio_relaxed_subqs.owl NCIT:C8106 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_ODYS biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254874008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000414 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346188 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006344 biolink:NamedThing ovarian yolk sac tumor A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular. phenio_relaxed_subqs.owl DOID:5350 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003759 biolink:NamedThing childhood ovarian yolk sac tumor A yolk sac tumor that arises from the ovary and occurs in children. phenio_relaxed_subqs.owl MONDO:0003905 biolink:NamedThing ovarian yolk sac tumor, glandular pattern A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into endodermal type glandular structures. phenio_relaxed_subqs.owl MONDO:0003906 biolink:NamedThing ovarian yolk sac tumor, hepatoid pattern A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into hepatic tissue. phenio_relaxed_subqs.owl MONDO:0003907 biolink:NamedThing ovarian yolk sac tumor, polyvesicular vitelline pattern A yolk sac tumor that arises from the ovary and is characterized by the presence of multiple dilated spaces lined by cells that resemble mesothelial cells. The dilated spaces coexist with columnar epithelial tissues. phenio_relaxed_subqs.owl NCIT:C8107 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_OYST biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254876005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000437 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346300 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017582 biolink:NamedThing pituitary adenocarcinoma A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. The majority are hormonally functioning neoplasms, usually producing prolactin or ACTH. The diagnosis is based on the presence of metastases. Syndromes associated with pituitary gland carcinomas include hyperprolactinemia, Cushing disease, and acromegaly. phenio_relaxed_subqs.owl DOID:4916 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003202 biolink:NamedThing pituitary gland basophilic carcinoma phenio_relaxed_subqs.owl MONDO:0006069 biolink:NamedThing ACTH-producing pituitary gland carcinoma A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease. phenio_relaxed_subqs.owl NCIT:C4536 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_PTCA biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254955001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:300385 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346303 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019611 biolink:NamedThing TSH-secreting pituitary adenoma A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism. phenio_relaxed_subqs.owl NCIT:C8011 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:91347 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346304 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019612 biolink:NamedThing functioning gonadotropic adenoma Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children). phenio_relaxed_subqs.owl OBO:SCTID_254960002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:91348 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346305 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017822 biolink:NamedThing mixed functioning pituitary adenoma phenio_relaxed_subqs.owl MONDO:0017823 biolink:NamedThing somatomammotropinoma phenio_relaxed_subqs.owl OBO:SCTID_254961003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314759 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346326 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003235 biolink:NamedThing optic nerve glioma A glioma that affects the optic nerve. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group. phenio_relaxed_subqs.owl DOID:4992 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020339 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003234 biolink:NamedThing optic nerve astrocytoma A astrocytoma (excluding glioblastoma) that involves the cranial nerve II. phenio_relaxed_subqs.owl MONDO:0003932 biolink:NamedThing childhood optic nerve glioma A glioma affecting the optic tract and occurring in childhood. phenio_relaxed_subqs.owl NCIT:C4537 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254976006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346352 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14463 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4546 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254998002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346360 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1751 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010744 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4550 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_CM biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_255004001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000204 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346367 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8400 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4553 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346379 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6524 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003911 biolink:NamedThing ciliary body mixed cell melanoma A mixed cell uveal melanoma that involves the ciliary body. phenio_relaxed_subqs.owl NCIT:C4558 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_255015006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346388 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6438 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003913 biolink:NamedThing choroid mixed cell melanoma A mixed cell uveal melanoma that involves the optic choroid. phenio_relaxed_subqs.owl MONDO:0004364 biolink:NamedThing choroid necrotic melanoma phenio_relaxed_subqs.owl NCIT:C4561 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_255021005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346390 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4562 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_255022003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346407 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019957 biolink:NamedThing PPoma PPoma is a type of pancreatic endocrine tumor that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1). phenio_relaxed_subqs.owl UMLS:C1882278 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206879 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C67453 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_255039001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:97278 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0346787 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4364 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C8410 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_188050009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0347095 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003784 biolink:NamedThing nasal cavity carcinoma in situ A in situ carcinoma that involves the nasal cavity. phenio_relaxed_subqs.owl DOID:6148 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4589 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_92663007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0347096 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4331312 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C9099 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_92664001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0347213 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021482 biolink:NamedThing benign neoplasm of middle ear A benign neoplasm that involves the middle ear. phenio_relaxed_subqs.owl MONDO:0003423 biolink:NamedThing middle ear adenoma A benign, well-circumscribed glandular neoplasm that arises from the middle ear and may exhibit neuroendocrine differentiation. It usually presents with conductive hearing loss. phenio_relaxed_subqs.owl NCIT:C4602 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_92218002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0347215 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4603 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_92241005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0347354 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021474 biolink:NamedThing benign neoplasm of ear A benign neoplasm that involves the ear. phenio_relaxed_subqs.owl NCIT:C8417 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_255181009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0347423 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10203 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4618 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_188988008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0347429 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10205 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35419 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_188993006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0347446 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13743 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4619 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_189017000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0347524 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000627 biolink:NamedThing benign endocrine neoplasm A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma. phenio_relaxed_subqs.owl DOID:0060089 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_227.9 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003455 biolink:NamedThing bile duct papillary neoplasm A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts. phenio_relaxed_subqs.owl MONDO:0004723 biolink:NamedThing liver leiomyoma A benign smooth muscle neoplasm arising from the liver. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. phenio_relaxed_subqs.owl MONDO:0016723 biolink:NamedThing pineocytoma Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis. phenio_relaxed_subqs.owl MONDO:0018902 biolink:NamedThing hepatocellular adenoma A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use. phenio_relaxed_subqs.owl MONDO:0021512 biolink:NamedThing benign neoplasm of thymus A benign neoplasm that involves the thymus. phenio_relaxed_subqs.owl NCIT:C4621 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_92085000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0347856 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4623 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000353 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0348165 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024318 biolink:NamedThing viral infection of central nervous system phenio_relaxed_subqs.owl OBO:ICD10WHO_A80-A89 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020805 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017606 biolink:NamedThing facial nerve palsy due to herpes zoster infection phenio_relaxed_subqs.owl MONDO:0024620 biolink:NamedThing meningitis caused by poliovirus phenio_relaxed_subqs.owl OBO:SCTID_302810003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0348287 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C531698 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_26249004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0348890 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005836 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_D61.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538494 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C61230 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609135 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_191256002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:88 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0349468 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024262 biolink:NamedThing massive neonatal aspiration syndrome phenio_relaxed_subqs.owl NCIT:C118312 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_276533002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0349499 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001409 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001480 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C122427 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_276701009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:294 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0349515 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10054 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4633 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0002894 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0349529 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4635 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000275 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0349535 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562842 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4637 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:114900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_276816003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0349536 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050925 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4638 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_276818002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0349539 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1992 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4640 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_276822007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0349557 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020550 biolink:NamedThing gestational choriocarcinoma Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole. phenio_relaxed_subqs.owl DOID:2025 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_181 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004489 biolink:NamedThing fallopian tube gestational choriocarcinoma A malignant trophoblastic tumor that arises from the fallopian tube during pregnancy. phenio_relaxed_subqs.owl MONDO:0004490 biolink:NamedThing gestational uterine corpus choriocarcinoma A gestational choriocarcinoma that involves the body of uterus. phenio_relaxed_subqs.owl NCIT:C4646 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_417570003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99926 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0349565 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10199 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4647 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_276891009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0349575 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003574 biolink:NamedThing external ear cancer A malignant neoplasm involving the external ear. phenio_relaxed_subqs.owl NCIT:C4652 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_277155005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0349576 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5665 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002944 biolink:NamedThing external ear carcinoma A carcinoma that arises from epithelial cells of the external ear phenio_relaxed_subqs.owl NCIT:C4653 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_277156006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0349626 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201994 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012016 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004512 biolink:NamedThing meningeal melanomatosis A meningeal melanoma with secondary diffuse meningeal spread. (WHO) phenio_relaxed_subqs.owl NCIT:C5505 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_PCNSM biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:252050 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0349631 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002083 biolink:NamedThing Richter syndrome Transformation of chronic lymphocytic leukemia into aggressive non-Hodgkin's lymphoma, usually diffuse large B-cell lymphoma (immunoblastic or centroblastic variant). Occasional cases of transformation to Hodgkin's lymphoma have also been described, particularly in patients treated with purine nucleotide analogues. Molecular genetic studies suggest that in approximately half of the cases, the lymphoma is clonally related to the underlying chronic lymphocytic leukemia, whereas in the remaining cases the lymphoma probably represents a secondary, unrelated neoplasm. phenio_relaxed_subqs.owl DOID:1703 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007578 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35424 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_277550009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0349644 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001472 biolink:NamedThing testicular lymphoma A lymphoma that arises from the testis and is not associated with lymphoma in another anatomic site. phenio_relaxed_subqs.owl DOID:12253 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6810 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_TLYM biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_277664004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0349653 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008907 biolink:NamedThing PMM2-CDG PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults. phenio_relaxed_subqs.owl DOID:0080552 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009826 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535739 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126868 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:212065 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_459063003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79318 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0349655 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009840 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562844 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:212067 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0362046 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11716 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011236 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C122685 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001121 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0376117 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11685 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_L82.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_702.11 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_442348004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0376286 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024298 biolink:NamedThing vitamin deficiency disorder A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency. phenio_relaxed_subqs.owl UMLS:C1510471 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_269.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D001361 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000461 biolink:NamedThing nutritional biotin deficiency phenio_relaxed_subqs.owl NCIT:C35772 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_85670002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005878 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0376300 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000248 biolink:NamedThing dengue shock syndrome A dengue disease that involves the most severe form of dengue fever, has material basis in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom easy bruising, has symptom blood spots, has symptom bleeding gums, and has symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth. phenio_relaxed_subqs.owl DOID:0050125 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D019595 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_409671005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0376378 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2355645 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6692 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_M53.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_723.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D055010 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34411 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_17300000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007165 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0376538 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D019318 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0376549 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005949 biolink:NamedThing roseolovirus infectious disease Infection with roseolovirus, the most common in humans being exanthema subitum, a benign disease of infants and young children. phenio_relaxed_subqs.owl OBO:MESH_D019349 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0100353 biolink:NamedThing HHV-7 infectious disease A disease caused by infection with herpesvirus-7. phenio_relaxed_subqs.owl EFO:0007474 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0376550 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005658 biolink:NamedThing Astroviridae infectious disease Infections with astrovirus, causing gastroenteritis in human infants, calves, lambs, and piglets. phenio_relaxed_subqs.owl OBO:MESH_D019350 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007158 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0376670 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4988 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D019512 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_445507008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1002013 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0391826 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019002 biolink:NamedThing Lhermitte-Duclos disease Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure. phenio_relaxed_subqs.owl OBO:GARD_0006901 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C8419 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:65285 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0391970 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006095 biolink:NamedThing atypical carcinoid tumor A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism. phenio_relaxed_subqs.owl UMLS:C1266032 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C72074 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_445238008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000097 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0392037 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B88.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_1086871000119109 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0392041 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5104 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27617 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_33793000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0392077 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13405 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35589 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_75403004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0392548 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11577 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010987 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_G83.4 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35436 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_192970008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007196 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0392662 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050256 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000683 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536369 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128394 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_61750000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:74 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0392998 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003792 biolink:NamedThing ovarian carcinosarcoma A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements. phenio_relaxed_subqs.owl DOID:6170 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007296 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C9192 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_OCS biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702368000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000412 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:213512 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0393555 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015149 biolink:NamedThing pure hereditary spastic paraplegia phenio_relaxed_subqs.owl MONDO:0014282 biolink:NamedThing hereditary spastic paraplegia 72 Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene. phenio_relaxed_subqs.owl MONDO:0017912 biolink:NamedThing X-linked pure spastic paraplegia phenio_relaxed_subqs.owl OBO:SCTID_230260007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:102012 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0393556 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN197491 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010354 biolink:NamedThing Allan-Herndon-Dudley syndrome Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency. phenio_relaxed_subqs.owl MONDO:0010858 biolink:NamedThing macrocephaly-spastic paraplegia-dysmorphism syndrome Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive. phenio_relaxed_subqs.owl MONDO:0011445 biolink:NamedThing hereditary spastic paraplegia 11 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene. phenio_relaxed_subqs.owl MONDO:0011803 biolink:NamedThing hereditary spastic paraplegia 7 Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia. phenio_relaxed_subqs.owl MONDO:0014209 biolink:NamedThing early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis. phenio_relaxed_subqs.owl MONDO:0017917 biolink:NamedThing maternally-inherited spastic paraplegia A rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination. phenio_relaxed_subqs.owl MONDO:0020339 biolink:NamedThing X-linked complex spastic paraplegia phenio_relaxed_subqs.owl OBO:SCTID_230261006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:102013 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0393559 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010156 biolink:NamedThing Troyer syndrome Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin. phenio_relaxed_subqs.owl DOID:0050886 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005372 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536858 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:275900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_230264003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0393565 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_230293003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:306686 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0393589 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008947 biolink:NamedThing bilateral striopallidodentate calcinosis A basal ganglia disease characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration. phenio_relaxed_subqs.owl UMLS:CN852731 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060230 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536275 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007247 biolink:NamedThing basal ganglia calcification, idiopathic, childhood-onset phenio_relaxed_subqs.owl MONDO:0014004 biolink:NamedThing basal ganglia calcification, idiopathic, 4 phenio_relaxed_subqs.owl MONDO:0014204 biolink:NamedThing basal ganglia calcification, idiopathic, 5 phenio_relaxed_subqs.owl MONDO:0014628 biolink:NamedThing basal ganglia calcification, idiopathic, 6 Any bilateral striopallidodentate calcinosis in which the cause of the disease is a mutation in the XPR1 gene. phenio_relaxed_subqs.owl MONDO:0024538 biolink:NamedThing basal ganglia calcification, idiopathic, 1 phenio_relaxed_subqs.owl MONDO:0032673 biolink:NamedThing basal ganglia calcification, idiopathic, 7, autosomal recessive phenio_relaxed_subqs.owl MONDO:0032938 biolink:NamedThing basal ganglia calcification, idiopathic, 8, autosomal recessive phenio_relaxed_subqs.owl OBO:OMIMPS_213600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_110997000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_230311004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1980 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0393590 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847731 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537657 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129973 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:213600 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606656 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0393626 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015247 biolink:NamedThing opsoclonus-myoclonus syndrome Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders. phenio_relaxed_subqs.owl OBO:GARD_0010009 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D053578 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4686 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_230350000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001383 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1183 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0393799 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005851 biolink:NamedThing Miller Fisher syndrome An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia. phenio_relaxed_subqs.owl DOID:12889 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003668 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D019846 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C116958 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_1767005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007371 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98919 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0393807 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019551 biolink:NamedThing hereditary motor and sensory neuropathy type 6 phenio_relaxed_subqs.owl DOID:0080068 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011002 biolink:NamedThing neuropathy, hereditary motor and sensory, type 6A Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene. phenio_relaxed_subqs.owl MONDO:0014671 biolink:NamedThing neuropathy, hereditary motor and sensory, type 6B Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene. phenio_relaxed_subqs.owl MONDO:0032792 biolink:NamedThing neuropathy, hereditary motor and sensory, type VIc, with optic atrophy phenio_relaxed_subqs.owl ORPHA:90120 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0393808 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010549 biolink:NamedThing Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females. phenio_relaxed_subqs.owl DOID:0110209 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001258 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129068 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:302800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763455008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101075 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0393911 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931939 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205091 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010428 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D054970 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_84438001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:441 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0393929 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009689 biolink:NamedThing congenital myasthenic syndrome 6 Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner. phenio_relaxed_subqs.owl DOID:0110671 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009689 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535759 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C132292 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:254210 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_230670003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0395818 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_232230009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0395849 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11217 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_384.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_89723004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0395863 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9736 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_381.02 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_52353000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0395865 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3696 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_381.03 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_77478005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0395869 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005892 biolink:NamedThing otitis media with effusion Otitis media associated with accumulation of fluid in the middle ear. phenio_relaxed_subqs.owl OBO:SCTID_232254004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0396058 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015316 biolink:NamedThing congenital laryngeal palsy Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months. phenio_relaxed_subqs.owl OBO:GARD_0012713 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:137932 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0396072 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0023597 biolink:NamedThing laryngeal papillomatosis Laryngeal papillomatosis is a form of recurrent respiratory papillomatosis where tumors (papillomas) grow in the larynx (voice box).Symptoms usually begin with hoarseness and/or a change in the voice.Some people mayexperience difficulty breathing (dyspnea) and/or experience other life-threatening complications if the papillomas block the airway. The tumors may vary in size and grow very quickly. They often grow back even when removed.Laryngeal papillomatosisis caused by two types of human papilloma virus (HPV), called HPV 6 and HPV 11. phenio_relaxed_subqs.owl OBO:GARD_0006864 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537876 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_232457008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0398593 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009506 biolink:NamedThing specific granule deficiency phenio_relaxed_subqs.owl OBO:GARD_0010778 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562873 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0044207 biolink:NamedThing specific granule deficiency 1 Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene. phenio_relaxed_subqs.owl MONDO:0044208 biolink:NamedThing specific granule deficiency 2 Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by {2:Witzel et al., 2017}).nnFor a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM:245480). phenio_relaxed_subqs.owl OBO:OMIMPS_245480 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234587000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:169142 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0398595 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009694 biolink:NamedThing myeloperoxidase deficiency phenio_relaxed_subqs.owl OBO:GARD_0003868 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562864 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:254600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234433009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2587 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0398621 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009009 biolink:NamedThing hypoplasminogenemia Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing. phenio_relaxed_subqs.owl UMLS:C1968804 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004380 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C580017 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:217090 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_95840007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:722 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0398626 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012876 biolink:NamedThing heparin cofactor 2 deficiency phenio_relaxed_subqs.owl OBO:MESH_C562865 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612356 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234468009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0398635 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013597 biolink:NamedThing platelet-type bleeding disorder 14 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the TBXAS1 gene. phenio_relaxed_subqs.owl DOID:0111047 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562866 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614158 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234477002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0398676 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13403 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35441 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111936002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0398689 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060022 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6620 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000073 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C61244 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:308230 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_403835002 biolink:NamedThing phenio_relaxed_subqs.owl OBO:Wikidata_Q3508611 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101088 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0398691 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009849 biolink:NamedThing hyperimmunoglobulinemia D with periodic fever Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs). phenio_relaxed_subqs.owl OBO:GARD_0002788 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:260920 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:343 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0398692 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015697 biolink:NamedThing immunoglobulin heavy chain deficiency phenio_relaxed_subqs.owl OBO:SCTID_234539005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:169110 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0398694 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6024 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27143 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234540007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0398695 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004165 biolink:NamedThing selective IgD deficiency disease A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class D (IgD). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient production of IgD from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons are asymptomatic and do not appear to be at increased risk for infection. phenio_relaxed_subqs.owl DOID:7263 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27144 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234541006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0398709 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562869 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:269650 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234554004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0398738 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110910 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006893 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535887 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4689 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:116920 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234582006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99842 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0398739 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070255 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004634 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535755 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4690 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:266265 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234583001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99843 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0398741 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562872 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:191150 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234584007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0398746 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010047 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536835 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009284 biolink:NamedThing glutathione synthetase deficiency without 5-oxoprolinuria phenio_relaxed_subqs.owl MONDO:0009947 biolink:NamedThing glutathione synthetase deficiency with 5-oxoprolinuria phenio_relaxed_subqs.owl NCIT:C128193 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234589002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:32 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0398747 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614164 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234590006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0398764 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565027 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613912 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234607008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:169467 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0398782 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111583 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562876 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C132196 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:212070 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234627009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0398783 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009527 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234628004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0398791 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN860323 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003904 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D049932 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4692 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:251260 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234638009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:647 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0399368 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110052 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562879 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:104500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234961008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0399379 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001807 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C531665 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538215 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017819 biolink:NamedThing atypical dentin dysplasia due to SMOC2 deficiency phenio_relaxed_subqs.owl OMIM:125400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_109493006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99789 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0399440 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060466 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007609 biolink:NamedThing fibromatosis, gingival, 1 Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene. phenio_relaxed_subqs.owl MONDO:0011563 biolink:NamedThing fibromatosis, gingival, 2 phenio_relaxed_subqs.owl MONDO:0012378 biolink:NamedThing fibromatosis, gingival, 3 phenio_relaxed_subqs.owl MONDO:0012598 biolink:NamedThing fibromatosis, gingival, 4 phenio_relaxed_subqs.owl MONDO:0033493 biolink:NamedThing fibromatosis, gingival, 5 phenio_relaxed_subqs.owl OBO:OMIMPS_135300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_109620006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2024 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0400964 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562885 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:237550 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_235906009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0400972 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537726 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:210550 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_235914003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0400978 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_197442005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:447774 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0403396 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0044781 biolink:NamedThing nephrotic syndrome of childhood - steroid sensitive Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids. phenio_relaxed_subqs.owl NCIT:C122797 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_236380004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0403399 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001500 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C122795 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:256300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_197601003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:839 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0403551 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562894 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:264140 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_236529001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0403552 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562895 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:265600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_236530006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0403764 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024392 biolink:NamedThing anaerobic balanitis phenio_relaxed_subqs.owl OBO:SCTID_236746000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0405580 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10493 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006722 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_255.4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000309 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C26691 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_386584007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0406419 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001089 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238700008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0406425 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009669 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238706002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0406500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009671 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537026 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_410016009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0406515 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007609 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537186 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:172900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_20343006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0406561 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562909 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:177350 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238840009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0406585 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010143 biolink:NamedThing lethal restrictive dermopathy Restrictive dermopathy (RD) is a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities. phenio_relaxed_subqs.owl DOID:0060762 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001516 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536920 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:275210 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_400128006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1662 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0406586 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009910 biolink:NamedThing Wiedemann-Rautenstrauch syndrome Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism. phenio_relaxed_subqs.owl OBO:GARD_0000330 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536423 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C121565 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:264090 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238874008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3455 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0406587 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010208 biolink:NamedThing wrinkly skin syndrome Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism). phenio_relaxed_subqs.owl OBO:GARD_0000273 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536750 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:278250 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238875009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2834 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0406594 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238883003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:94087 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0406608 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3927 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007350 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535549 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27486 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000748 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0406612 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002108 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535736 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4701 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613001 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238905009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2396 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0406636 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019560 biolink:NamedThing lupus erythematosus tumidus Tumid erythematosus lupus is considered a rare type of chronic cutaneous lupus erythematosus. Cutaneous lupus erythematosus (CLE) can be divided into acute cutaneous lupus, subacute cutaneous lupus, and chronic cutaneous lupus. Tumid erythematosus lupus is characterized by smooth, non-scarring, pink- to violet-colored pimples (papules)on the skin without any other apparent skin changes, such as scarring. Patients with tumid lupus erythematosus usually do not have other symptoms of systemic lupus erythematosus or other types of cutaneous lupus erythematosus. The papules appear on sun-exposed areas of the face, upper back, V area of the neck, trunk, and arms, and more rarely on thighs and legs. They usually affect equally both sides of the body, but may affect only one side. Normally, the papules clear without leaving scars. The treatment is very effective in most cases, and may include sun protection, anti-malarials drugs, local corticosteroids, topical tacrolimus and light therapy. phenio_relaxed_subqs.owl OBO:GARD_0013003 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C117112 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_200941006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90283 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0406637 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238926009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0406645 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009907 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538250 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238935002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0406655 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238945000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0406659 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006551 biolink:NamedThing alopecia mucinosa A rare dermatologic disorder characterized by the accumulation of mucinous material in the hair follicles. In some cases it is associated with lymphoproliferative disorders, most often mycosis fungoides and Hodgkin lymphoma. phenio_relaxed_subqs.owl OBO:SCTID_110981005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0406660 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019581 biolink:NamedThing acral persistent papular mucinosis Acral persistent papular mucinosis is a rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms. phenio_relaxed_subqs.owl OBO:SCTID_238949006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90396 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0406702 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002057 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D053360 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009147 biolink:NamedThing ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive phenio_relaxed_subqs.owl MONDO:0013983 biolink:NamedThing ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive phenio_relaxed_subqs.owl NCIT:C84580 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_27025001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:248 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0406704 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN776907 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060782 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002076 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536189 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007520 biolink:NamedThing ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3. phenio_relaxed_subqs.owl MONDO:0011428 biolink:NamedThing ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene. phenio_relaxed_subqs.owl NCIT:C148261 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:268650 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_39788007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1896 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0406715 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111661 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602401 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_239020008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99672 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0406724 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000265 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536551 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601453 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_277810000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3351 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0406729 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855504 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565440 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:246500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_239032007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1816 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0406733 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199447 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538074 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:214350 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_239037001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1401 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0406735 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6678 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005587 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536736 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40553 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:189500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_400036004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2228 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0406740 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111668 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003128 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537213 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:226750 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_109478007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1946 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0406810 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050471 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001119 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D056733 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008057 biolink:NamedThing Carney complex, type 1 Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene. phenio_relaxed_subqs.owl MONDO:0011525 biolink:NamedThing Carney complex type 2 phenio_relaxed_subqs.owl MONDO:0012137 biolink:NamedThing Carney complex - trismus - pseudocamptodactyly syndrome Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities). phenio_relaxed_subqs.owl NCIT:C4705 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733491005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1359 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0409676 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0043377 biolink:NamedThing juvenile spondyloarthropathy A group of chronic, inflammatory childhood diseases characterized by arthritis and enthesitis. This disorder can affect the axial skeleton in late childhood or young adulthood. phenio_relaxed_subqs.owl OBO:GARD_0012939 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C114347 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_239806000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0409974 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8857 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_L93 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_695.4 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007915 biolink:NamedThing systemic lupus erythematosus An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific. phenio_relaxed_subqs.owl NCIT:C27153 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_200936003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0409977 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C117104 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_239889005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0008619 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:46489 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0409979 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018360 biolink:NamedThing neonatal lupus erythematosus A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis. phenio_relaxed_subqs.owl OBO:GARD_0009563 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536397 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C99236 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_95609003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0004537 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:398124 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0409980 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_239892009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0002689 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0409983 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018357 biolink:NamedThing neonatal antiphospholipid syndrome phenio_relaxed_subqs.owl OBO:SCTID_239895006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0410005 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7327 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_M72.4 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004186 biolink:NamedThing cranial nodular fasciitis A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the cranium. This is an osteolytic lesion. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity. phenio_relaxed_subqs.owl MONDO:0004836 biolink:NamedThing intravascular fasciitis A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the vessels. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity. phenio_relaxed_subqs.owl NCIT:C3827 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_400138001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:477742 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0410173 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009677 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2C Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported. phenio_relaxed_subqs.owl DOID:0110277 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002429 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535900 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:253700 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:353 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0410174 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009678 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment. phenio_relaxed_subqs.owl DOID:0050559 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126741 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:253800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111502003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:272 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0410180 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110633 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019398 biolink:NamedThing desmin-related myopathy with Mallory body-like inclusions phenio_relaxed_subqs.owl NCIT:C126691 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602771 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_240063002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0410190 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021569 biolink:NamedThing Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene. phenio_relaxed_subqs.owl UMLS:C1834653 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070247 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110301 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010230 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535898 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126745 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:159001 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:181350 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_240072005 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718178006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:264 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0410192 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010884 biolink:NamedThing muscular dystrophy, scapulohumeral phenio_relaxed_subqs.owl OBO:MESH_C562932 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600416 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_240074006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0410203 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010683 biolink:NamedThing X-linked centronuclear myopathy X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. phenio_relaxed_subqs.owl DOID:0111225 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0011925 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010271 biolink:NamedThing X-linked myotubular myopathy-abnormal genitalia syndrome X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia. phenio_relaxed_subqs.owl MONDO:0035826 biolink:NamedThing symptomatic form of x-linked centronuclear myopathy in female carriers phenio_relaxed_subqs.owl NCIT:C118781 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:310400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_46804001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:596 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0410422 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009813 biolink:NamedThing chronic recurrent multifocal osteomyelitis Chronic non bacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine. phenio_relaxed_subqs.owl DOID:0060645 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006108 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535456 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C119042 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:259680 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_240151005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:324964 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0410530 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111512 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003560 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562938 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:156250 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_205481009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2499 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0410787 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002579 biolink:NamedThing orbit embryonal rhabdomyosarcoma A malignant mesenchymal neoplasm that arises from the orbit. It is characterized by the presence of skeletal muscle tissue exhibiting embryonic features. phenio_relaxed_subqs.owl MONDO:0002625 biolink:NamedThing Ewing sarcoma of bone A small round cell bone tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It often affects the diaphysis or metaphyseal-diaphyseal portion of long bones. Clinical findings include pain and a mass in the involved area. fever, anemia, leukocytosis, and an increased sedimentation rate are often seen. X-ray examination reveals osteolytic lesions. The prognosis depends on the stage, anatomic location, and size of the tumor. phenio_relaxed_subqs.owl MONDO:0007546 biolink:NamedThing myeloproliferative disorder, chronic, with eosinophilia phenio_relaxed_subqs.owl MONDO:0007562 biolink:NamedThing multiple epiphyseal dysplasia, Beighton type Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits. phenio_relaxed_subqs.owl MONDO:0007608 biolink:NamedThing desmoid tumor A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential. phenio_relaxed_subqs.owl MONDO:0007895 biolink:NamedThing platyspondylic dysplasia, Torrance type phenio_relaxed_subqs.owl MONDO:0008139 biolink:NamedThing OSLAM syndrome OSLAM syndrome is characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia. phenio_relaxed_subqs.owl MONDO:0008429 biolink:NamedThing Singleton-Merten dysplasia Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male). phenio_relaxed_subqs.owl MONDO:0008471 biolink:NamedThing spondyloepiphyseal dysplasia congenita Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies. phenio_relaxed_subqs.owl MONDO:0008476 biolink:NamedThing spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). phenio_relaxed_subqs.owl MONDO:0008478 biolink:NamedThing spondylometaphyseal dysplasia, Schmidt type Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. phenio_relaxed_subqs.owl MONDO:0008583 biolink:NamedThing inherited torticollis A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation. phenio_relaxed_subqs.owl MONDO:0008641 biolink:NamedThing retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction. phenio_relaxed_subqs.owl MONDO:0008702 biolink:NamedThing achondrogenesis type II Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage. phenio_relaxed_subqs.owl MONDO:0008818 biolink:NamedThing arterial tortuosity syndrome Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries. phenio_relaxed_subqs.owl MONDO:0009105 biolink:NamedThing trichohepatoenteric syndrome A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction. phenio_relaxed_subqs.owl MONDO:0009891 biolink:NamedThing acquired polycythemia vera Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production. phenio_relaxed_subqs.owl MONDO:0010078 biolink:NamedThing spondyloperipheral dysplasia-short ulna syndrome An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is characterized by short stature, pugilistic facies, midface hypoplasia, spondyloepiphyseal dysplasia, kyphosis, short ulna, and absent styloid process. Mutation(s) in the same gene are responsible for Kniest dysplasia. phenio_relaxed_subqs.owl MONDO:0010523 biolink:NamedThing X-linked reticulate pigmentary disorder X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature. phenio_relaxed_subqs.owl MONDO:0011230 biolink:NamedThing ossification of the posterior longitudinal ligament of the spine A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms. phenio_relaxed_subqs.owl MONDO:0011431 biolink:NamedThing MASS syndrome A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms. phenio_relaxed_subqs.owl MONDO:0011462 biolink:NamedThing pyogenic arthritis-pyoderma gangrenosum-acne syndrome A rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin. phenio_relaxed_subqs.owl MONDO:0011496 biolink:NamedThing mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk. phenio_relaxed_subqs.owl MONDO:0011744 biolink:NamedThing primary intraosseous venous malformation Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting. phenio_relaxed_subqs.owl MONDO:0011908 biolink:NamedThing juvenile myelomonocytic leukemia A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001) phenio_relaxed_subqs.owl MONDO:0011934 biolink:NamedThing dermatofibrosarcoma protuberans Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22). phenio_relaxed_subqs.owl MONDO:0011939 biolink:NamedThing Spondyloenchondrodysplasia with immune dysregulation phenio_relaxed_subqs.owl MONDO:0011996 biolink:NamedThing chronic myelogenous leukemia, BCR-ABL1 positive A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival. phenio_relaxed_subqs.owl MONDO:0012206 biolink:NamedThing Czech dysplasia, metatarsal type Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes. phenio_relaxed_subqs.owl MONDO:0012316 biolink:NamedThing Majeed syndrome Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis. phenio_relaxed_subqs.owl MONDO:0012892 biolink:NamedThing bone fragility with contractures, arterial rupture, and deafness A rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features. phenio_relaxed_subqs.owl MONDO:0013021 biolink:NamedThing sterile multifocal osteomyelitis with periostitis and pustulosis An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis. phenio_relaxed_subqs.owl MONDO:0013280 biolink:NamedThing myxoid liposarcoma A liposarcoma characterized by the presence of round non-lipogenic primitive mesenchymal cells and small signet ring lipoblasts within a myxoid stoma with a branching vascular pattern. This category includes hypercellular lesions with round cell morphology, formerly known as round cell liposarcoma. phenio_relaxed_subqs.owl MONDO:0013626 biolink:NamedThing psoriasis 14, pustular Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene. phenio_relaxed_subqs.owl MONDO:0013743 biolink:NamedThing autosomal systemic lupus erythematosus type 16 An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3. phenio_relaxed_subqs.owl MONDO:0013944 biolink:NamedThing autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation phenio_relaxed_subqs.owl MONDO:0014306 biolink:NamedThing vasculitis due to ADA2 deficiency Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency. phenio_relaxed_subqs.owl MONDO:0014405 biolink:NamedThing STING-associated vasculopathy with onset in infancy STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation. phenio_relaxed_subqs.owl MONDO:0014701 biolink:NamedThing spondyloepiphyseal dysplasia, Stanescu type phenio_relaxed_subqs.owl MONDO:0014761 biolink:NamedThing hereditary pediatric Behçet-like disease phenio_relaxed_subqs.owl MONDO:0014831 biolink:NamedThing progeroid and marfanoid aspect-lipodystrophy syndrome phenio_relaxed_subqs.owl MONDO:0014837 biolink:NamedThing thrombocytopenia 6 phenio_relaxed_subqs.owl MONDO:0016071 biolink:NamedThing juvenile hyaline fibromatosis Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis. phenio_relaxed_subqs.owl MONDO:0017310 biolink:NamedThing Marfan and Marfan-related disorder phenio_relaxed_subqs.owl MONDO:0017411 biolink:NamedThing neonatal inflammatory skin and bowel disease Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis. phenio_relaxed_subqs.owl MONDO:0017893 biolink:NamedThing inherited acute myeloid leukemia An instance of acute myeloid leukemia that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0017992 biolink:NamedThing autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis phenio_relaxed_subqs.owl MONDO:0018815 biolink:NamedThing aneurysmal bone cyst A locally aggressive and destructive benign cystic lesion of the bone. It is characterized by the formation of multiloculated hemorrhagic cystic spaces which are separated by fibrous septa. It can arise from any bone, but usually affects the metaphysis of long bones. It manifests with pain and swelling and may recur following curettage. phenio_relaxed_subqs.owl MONDO:0018828 biolink:NamedThing pseudo-TORCH syndrome 2 phenio_relaxed_subqs.owl MONDO:0019669 biolink:NamedThing hypochondrogenesis phenio_relaxed_subqs.owl MONDO:0026777 biolink:NamedThing VEXAS syndrome An adult-onset inflammatory disease that affects only males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death. phenio_relaxed_subqs.owl MONDO:0033683 biolink:NamedThing congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome phenio_relaxed_subqs.owl NCIT:C97075 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_363045008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0431420 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005467 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536535 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_253194008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1053 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0431693 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206512 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111101 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010221 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535520 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C123018 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:137920 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_446641003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93111 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0432194 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010013 biolink:NamedThing schneckenbecken dysplasia Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia. phenio_relaxed_subqs.owl DOID:0050775 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000169 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536637 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:269250 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254049009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3144 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0432197 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004835 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537602 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254051008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93271 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0432198 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9249 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004832 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537599 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:269860 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254052001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93268 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0432217 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090060 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005589 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536739 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131007 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:226980 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254066006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1667 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0432235 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN016627 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN119432 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050577 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000359 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013323 biolink:NamedThing cranioectodermal dysplasia 2 Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene. phenio_relaxed_subqs.owl MONDO:0013573 biolink:NamedThing cranioectodermal dysplasia 3 Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene. phenio_relaxed_subqs.owl MONDO:0013719 biolink:NamedThing cranioectodermal dysplasia 4 phenio_relaxed_subqs.owl MONDO:0021093 biolink:NamedThing cranioectodermal dysplasia 1 Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene. phenio_relaxed_subqs.owl NCIT:C129305 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_218330 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254093009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1515 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0432240 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796176 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005045 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537502 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601559 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254097005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3206 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0432252 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060849 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004160 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536063 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C130998 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:259770 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2788 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0432253 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060231 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254113006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2771 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0432254 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000122 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537343 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014575 biolink:NamedThing Singleton-Merten syndrome 2 Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene. phenio_relaxed_subqs.owl MONDO:0024535 biolink:NamedThing Singleton-Merten syndrome 1 Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene. phenio_relaxed_subqs.owl OBO:OMIMPS_182250 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254114000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:85191 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0432306 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007813 biolink:NamedThing superficial epidermolytic ichthyosis Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth. phenio_relaxed_subqs.owl DOID:0060877 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002966 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D053560 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84777 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:146800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254169002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:455 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0432346 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562988 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:177750 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254229006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0432348 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016067 biolink:NamedThing Crandall syndrome This syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Bjrnstad's syndrome that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder. phenio_relaxed_subqs.owl OBO:GARD_0001561 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_278098005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:202 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0432365 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002313 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C99082 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_36193003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3312 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0432367 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016004 biolink:NamedThing aminopterin/methotrexate embryofetopathy Aminopterin/Methotrexate embryofetopathy is a syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy. phenio_relaxed_subqs.owl OBO:GARD_0002294 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C98928 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_65986000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1908 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0432371 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016007 biolink:NamedThing cocaine embryofetopathy A group of clinical signs observed in newborns exposed in utero to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring. phenio_relaxed_subqs.owl OBO:GARD_0001413 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254250002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1911 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0432373 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016014 biolink:NamedThing fetal minoxidil syndrome Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available. phenio_relaxed_subqs.owl OBO:GARD_0002308 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254251003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1918 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0432442 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060406 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008631 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538309 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84521 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:146390 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_270890001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1598 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261974 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0432443 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060407 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536580 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0700118 biolink:NamedThing proximal chromosome 18q deletion syndrome Chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material from the part of the long (q) arm near the center of chromosome 18. phenio_relaxed_subqs.owl MONDO:0700119 biolink:NamedThing distal chromosome 18q deletion syndrome Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18. phenio_relaxed_subqs.owl NCIT:C84522 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601808 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_270889005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1600 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:262146 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0432528 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9599 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4728 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254737002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0432529 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9603 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4729 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254738007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0436545 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3089 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27162 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_50390006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0457013 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111571 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000497 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536695 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:193530 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_277807007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:952 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0457014 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000932 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562993 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:112300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722296002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1262 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0458224 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010026 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D055958 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85012 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_129179000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0472694 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008524 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538144 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:140850 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234140000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2124 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0472786 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563171 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:250700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234397008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0472817 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:8000006 biolink:NamedThing WHIM syndrome 1 A congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma). phenio_relaxed_subqs.owl DOID:0060591 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009297 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536697 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:193670 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234571003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:51636 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0473132 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D003968 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_39963006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0473230 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_197848003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0473527 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D052456 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018999 biolink:NamedThing LCAT deficiency LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol. phenio_relaxed_subqs.owl NCIT:C84774 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_190785000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:31153 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0473546 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852146 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536347 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:125630 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:193050 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238694002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:493342 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0473876 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050383 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_398554008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0474836 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080189 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0474966 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3148 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0476121 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6214 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003873 biolink:NamedThing ovarian surface papilloma A benign serous neoplasm characterized by the presence of papillary proliferations on the surface of the ovary. phenio_relaxed_subqs.owl MONDO:0003874 biolink:NamedThing ovarian serous surface papillary adenocarcinoma A serous adenocarcinoma that arises from the ovary and is characterized by the presence of a papillary architectural pattern. phenio_relaxed_subqs.owl NCIT:C8430 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0476122 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020662 biolink:NamedThing borderline ovarian serous tumor A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion. phenio_relaxed_subqs.owl MONDO:0024885 biolink:NamedThing malignant ovarian serous tumor An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia. It includes serous adenocarcinoma and serous adenocarcinofibroma. phenio_relaxed_subqs.owl NCIT:C8431 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0494040 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14019 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_428174001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0494261 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015131 biolink:NamedThing combined immunodeficiency A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern. phenio_relaxed_subqs.owl DOID:628 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018814 biolink:NamedThing non-SCID combined immunodeficiency phenio_relaxed_subqs.owl MONDO:0035694 biolink:NamedThing combined immunodeficiency due to RELA haploinsufficiency phenio_relaxed_subqs.owl NCIT:C27871 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101972 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0496842 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1785 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009371 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006372 biolink:NamedThing pituicytoma An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido. phenio_relaxed_subqs.owl MONDO:0024649 biolink:NamedThing optic tract astrocytoma An astrocytoma that affects the optic tract. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group. phenio_relaxed_subqs.owl NCIT:C4769 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_363482009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005578 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0496901 biolink:NamedThing phenio_relaxed_subqs.owl DOID:60009 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_D35.2 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4782 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_92296004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0519030 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13272 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_J15.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_482.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_64479007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0520459 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4082937 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_777.5 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020345 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004639 biolink:NamedThing perinatal necrotizing enterocolitis A fulminating disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis usually of the right colon, cecum, terminal ileum, and appendix, possibly due to perinatal intestinal ischemia and bacterial invasion. Progression can lead to necrosis, perforation and/or scarring of the intestinal tract. phenio_relaxed_subqs.owl NCIT:C84915 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_2707005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0003928 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:391673 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0520575 biolink:NamedThing phenio_relaxed_subqs.owl DOID:559 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_N10 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C123215 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_36689008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0520679 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050848 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_G47.33 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_327.23 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020181 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024358 biolink:NamedThing complex sleep apnea A distinct form of sleep-disordered breathing characterized as central sleep apnea (CSA), and presents in obstructive sleep apnea (OSA) patients during initial treatment with a continuous positive airway pressure (CPAP) device. phenio_relaxed_subqs.owl NCIT:C27168 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:107650 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_78275009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0003918 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0520680 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008807 biolink:NamedThing apnea, central sleep phenio_relaxed_subqs.owl OMIM:107640 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:207720 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0520711 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563002 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:258700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_77553008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0520779 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050485 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000120 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537582 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_21013006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0520783 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010328 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0521515 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14181 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_M65.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_95414005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0521610 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005742 biolink:NamedThing emphysematous cholecystitis Cholecystitis resulting from infection by gas producing organisms. phenio_relaxed_subqs.owl DOID:9765 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D041882 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35592 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_95558008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007249 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0521802 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050649 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009595 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538259 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C125693 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:209300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111571009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1195 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0522624 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019475 biolink:NamedThing subcutaneous panniculitis-like T-cell lymphoma Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue. phenio_relaxed_subqs.owl OBO:GARD_0010193 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_C86.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537503 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6918 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:618398 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_SPTCL biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_404133000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000552 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:86884 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0524582 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931895 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050436 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000095 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D050336 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84906 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:253250 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_81604003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2576 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0524620 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14221 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009226 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_277.7 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D024821 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605552 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237602007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0524688 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10398 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A20.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_020.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_35339003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0524909 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D019694 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0004239 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0524988 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018304 biolink:NamedThing Schnitzler syndrome A rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response. phenio_relaxed_subqs.owl DOID:4371 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012390 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D019873 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_402415001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001165 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:37748 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0543514 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111041 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563008 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:261750 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79240 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0543541 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563009 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:138500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0544839 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:137814 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0545044 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007047 biolink:NamedThing punctate palmoplantar keratoderma type III Acrokeratoelastoidosis of Costa is a rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later phenio_relaxed_subqs.owl DOID:0060362 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000125 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000133 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535653 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:101850 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000758 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:38 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0546123 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015739 biolink:NamedThing adult-onset nemaline myopathy Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset. phenio_relaxed_subqs.owl OBO:GARD_0012824 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:171442 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0546394 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4274331 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010562 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716704007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:137810 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0546966 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050472 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000093 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D056734 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84894 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:158000 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:252200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_69488000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:573 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0546996 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4282208 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11302 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009747 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B65.3 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128349 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238534006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0549150 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_L73.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563016 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612318 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0549160 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10921 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_082.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_186781003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0549307 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018169 biolink:NamedThing morning glory syndrome Morning glory syndrome (MGS) is an optic neuropathy characterized by a congenital funnel shaped excavation of the posterior fundus that incorporates the optic disc malformation (resembling the morning glory flower) MGS is usually unilateral and may result in a decrease in best-corrected visual acuity (BCVA). MGS either occurs isolated or associated to other ocular or non-ocular anomalies. phenio_relaxed_subqs.owl OBO:GARD_0013354 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:35737 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0549463 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010627 biolink:NamedThing X-linked lymphoproliferative syndrome X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV). phenio_relaxed_subqs.owl DOID:0060705 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007906 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010385 biolink:NamedThing X-linked lymphoproliferative disease due to XIAP deficiency A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2. phenio_relaxed_subqs.owl MONDO:0024551 biolink:NamedThing X-linked lymphoproliferative disease due to SH2D1A deficiency A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells. phenio_relaxed_subqs.owl NCIT:C61246 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_77121009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2442 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0549472 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535937 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:215030 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_233728004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0549473 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015075 biolink:NamedThing thyroid gland carcinoma A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. phenio_relaxed_subqs.owl DOID:3963 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006466 biolink:NamedThing thyroid gland spindle cell tumor with thymus-like differentiation A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells. phenio_relaxed_subqs.owl MONDO:0006467 biolink:NamedThing thyroid gland squamous cell carcinoma A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive. phenio_relaxed_subqs.owl MONDO:0015447 biolink:NamedThing differentiated thyroid carcinoma Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass. phenio_relaxed_subqs.owl MONDO:0024622 biolink:NamedThing thyroid gland adenocarcinoma An adenocarcinoma arising from the follicular cells of the thyroid gland. According to the degree of differentiation, it is classified either as differentiated carcinoma (extensive evidence of follicular cell differentiation), or poorly differentiated carcinoma (limited evidence of follicular cell differentiation). phenio_relaxed_subqs.owl NCIT:C4815 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_448216007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000586 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100088 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0553576 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000256 biolink:NamedThing systemic mycosis A mycosis that involves the lungs, abdominal viscera, bones and or central nervous system. phenio_relaxed_subqs.owl DOID:0050136 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000308 biolink:NamedThing primary systemic mycosis A systemic mycosis that arises from infection in an immunologically normal host. phenio_relaxed_subqs.owl OBO:SCTID_399314004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0553669 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015100 biolink:NamedThing aregenerative anemia phenio_relaxed_subqs.owl OBO:SCTID_89112009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101096 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0554114 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050204 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_302919001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0559460 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5718 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004477 biolink:NamedThing adrenal gland ganglioneuroblastoma A ganglioneuroblastoma arising from the adrenal gland. phenio_relaxed_subqs.owl NCIT:C4827 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_281562007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000075 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0566602 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060643 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001280 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011199 biolink:NamedThing nephropathy, progressive tubulointerstitial, with cholestatic liver disease phenio_relaxed_subqs.owl OMIM:613806 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_197441003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:171 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0574079 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_297226004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0574080 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050799 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002578 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537622 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612736 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_124239003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:382 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0574083 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050476 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005890 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E78.71 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D056889 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84585 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:302060 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_297231002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:111 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0574084 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009787 biolink:NamedThing 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria. phenio_relaxed_subqs.owl DOID:0110004 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005663 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535311 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:258501 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_297232009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:67047 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0574085 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009611 biolink:NamedThing 3-methylglutaconic aciduria type 4 3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III). phenio_relaxed_subqs.owl UMLS:C1855126 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110006 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010342 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565393 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:250951 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_297233004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:67048 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0574089 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017692 biolink:NamedThing generalized galactose epimerase deficiency phenio_relaxed_subqs.owl OBO:SCTID_297237003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:308487 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0574090 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017691 biolink:NamedThing erythrocyte galactose epimerase deficiency phenio_relaxed_subqs.owl OBO:SCTID_297238008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:308473 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0578661 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_301990003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0580190 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018491 biolink:NamedThing 3-phosphoglycerate dehydrogenase deficiency phenio_relaxed_subqs.owl MONDO:0011152 biolink:NamedThing PHGDH deficiency 3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form phenio_relaxed_subqs.owl OBO:SCTID_303098002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:422519 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0582885 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4831 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_304990002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0585474 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3368 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4835 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_307608006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0586989 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005608 biolink:NamedThing varicella zoster infection A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox. phenio_relaxed_subqs.owl MONDO:0021175 biolink:NamedThing herpetic vulvovaginitis Infection of the vulva and the vagina caused by herpes simplex virus. phenio_relaxed_subqs.owl NCIT:C96407 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_309465005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0006509 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0587248 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009026 biolink:NamedThing Costello syndrome Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors. phenio_relaxed_subqs.owl DOID:0050469 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001550 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D056685 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84652 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:218040 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_309776008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3071 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0588125 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002399 biolink:NamedThing tenosynovial giant cell tumor, localized type A well-circumscribed, lobulated tumor, completely or partially covered by a fibrous capsule. It usually arises in the fingers. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. The tumor is slow-growing, usually developing over several years. Clinical presentation includes painless edema of the affected site. phenio_relaxed_subqs.owl DOID:2701 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_727.02 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6532 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_95413004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0596046 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021237 biolink:NamedThing adrenal medulla neoplasm A neoplasm (disease) that involves the adrenal medulla. phenio_relaxed_subqs.owl MONDO:0004974 biolink:NamedThing adrenal gland pheochromocytoma A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present. phenio_relaxed_subqs.owl NCIT:C4856 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0598608 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004743 biolink:NamedThing hyperhomocysteinemia A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents. phenio_relaxed_subqs.owl UMLS:C3495426 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9279 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008230 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020138 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84770 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603174 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_419503008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0599464 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563024 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:270900 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0600113 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021657 biolink:NamedThing ovarian sex cord-stromal tumor A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor. phenio_relaxed_subqs.owl DOID:0080369 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012285 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018172 biolink:NamedThing malignant sex cord stromal tumor of ovary Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis. phenio_relaxed_subqs.owl MONDO:0020807 biolink:NamedThing ovarian sertoli-stromal cell tumor A sex cord-stromal tumor that arises from the ovary and is composed entirely of, or in various combinations of, Sertoli cells, Leydig cells, and fibroblast-like cells. phenio_relaxed_subqs.owl MONDO:0024387 biolink:NamedThing benign ovarian sex cord-stromal tumor A sex cord-stromal tumor arising from the ovary, without metastatic potential. phenio_relaxed_subqs.owl MONDO:0037253 biolink:NamedThing ovarian thecoma A stromal tumor that arises from the ovary and is characterized by the presence of cells that contain lipid and resemble theca cells. The vast majority of cases are benign. phenio_relaxed_subqs.owl NCIT:C4862 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_SCST biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000430 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0600327 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204669 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14115 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009560 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A48.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_040.82 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012772 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020545 biolink:NamedThing staphylococcal toxic-shock syndrome Staphylococcal toxic shock syndrome (staphylococcal TSS) is an acute disease mediated by the production of superantigenic toxins, characterized by high fever, skin rash followed by skin peeling, hypotension, vomiting, diarrhea and potentially leading to multisystem organ failure and caused by a Staphylococcus aureus bacterial infection. phenio_relaxed_subqs.owl NCIT:C35498 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_18504008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:36234 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0677607 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7188 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E06.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D050031 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27191 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:140300 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0003779 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:855 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0677608 biolink:NamedThing phenio_relaxed_subqs.owl DOID:277 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4868 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237268002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000480 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0677776 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5683 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012351 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012352 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D061325 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011450 biolink:NamedThing breast-ovarian cancer, familial, susceptibility to, 1 Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA1 gene. phenio_relaxed_subqs.owl MONDO:0012933 biolink:NamedThing breast-ovarian cancer, familial, susceptibility to, 2 Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA2 gene. phenio_relaxed_subqs.owl MONDO:0013253 biolink:NamedThing breast-ovarian cancer, familial, susceptibility to, 3 Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51C gene. phenio_relaxed_subqs.owl MONDO:0013669 biolink:NamedThing breast-ovarian cancer, familial, susceptibility to, 4 Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51D gene. phenio_relaxed_subqs.owl NCIT:C8493 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_604370 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718220008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:145 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0678213 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009273 biolink:NamedThing hydatidiform mole, recurrent, 1 Any complete hydatidiform mole in which the cause of the disease is a mutation in the NLRP7 gene. phenio_relaxed_subqs.owl MONDO:0013671 biolink:NamedThing hydatidiform mole, recurrent, 2 Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene. phenio_relaxed_subqs.owl NCIT:C4871 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_CHM biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237249000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:254688 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0679362 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050598 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_423997002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0685200 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13081 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C8540 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_93473009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000707 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0685201 biolink:NamedThing phenio_relaxed_subqs.owl DOID:256 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0023650 biolink:NamedThing littoral cell angioma of the spleen Littoral cell angioma is a rare primary vascular neoplasm of the spleen, composed of littoral cells that line the splenic sinuses of the red pulp. It was thought to be a benign, incidental lesion. However, many recent reports have described it to be a malignant lesion with congenital and immunological associations. The definitive diagnosis can only be made after histology and immunohistochemistry studies. phenio_relaxed_subqs.owl NCIT:C8541 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_93472004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0685838 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN239459 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050857 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002542 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009300 biolink:NamedThing Perrault syndrome 1 Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene. phenio_relaxed_subqs.owl MONDO:0013588 biolink:NamedThing Perrault syndrome 3 Any Perrault syndrome in which the cause of the disease is a mutation in the CLPP gene. phenio_relaxed_subqs.owl MONDO:0013972 biolink:NamedThing Perrault syndrome 2 Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene. phenio_relaxed_subqs.owl MONDO:0014126 biolink:NamedThing Perrault syndrome 4 Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene. phenio_relaxed_subqs.owl MONDO:0014504 biolink:NamedThing Perrault syndrome 5 Any Perrault syndrome in which the cause of the disease is a mutation in the TWNK gene. phenio_relaxed_subqs.owl MONDO:0033047 biolink:NamedThing Perrault syndrome 6 phenio_relaxed_subqs.owl OBO:OMIMPS_233400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_93466004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2855 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0686274 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021498 biolink:NamedThing benign neoplasm of placenta A benign neoplasm that involves the placenta. phenio_relaxed_subqs.owl NCIT:C8545 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_92297008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0686347 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:272620 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_102449007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0686352 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_91956006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0686512 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006103 biolink:NamedThing benign adrenal gland pheochromocytoma A sporadic or familial pheochromocytoma that is confined to the adrenal gland and does not have any metastatic potential. The majority of cases are sporadic, and usually unilateral. Familial cases are usually bilateral. phenio_relaxed_subqs.owl NCIT:C4895 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_91968002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0687120 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2939174 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12712 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000206 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011190 biolink:NamedThing nephronophthisis 2 Any nephronophthisis in which the cause of the disease is a mutation in the INVS gene. phenio_relaxed_subqs.owl MONDO:0011456 biolink:NamedThing nephronophthisis 3 Any nephronophthisis in which the cause of the disease is a mutation in the NPHP3 gene. phenio_relaxed_subqs.owl MONDO:0011752 biolink:NamedThing nephronophthisis 4 Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene. phenio_relaxed_subqs.owl MONDO:0012680 biolink:NamedThing nephronophthisis 7 Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene. phenio_relaxed_subqs.owl MONDO:0013163 biolink:NamedThing nephronophthisis-like nephropathy 1 Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene. phenio_relaxed_subqs.owl MONDO:0013302 biolink:NamedThing nephronophthisis 11 A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1. phenio_relaxed_subqs.owl MONDO:0013442 biolink:NamedThing nephronophthisis 12 Any nephronophthisis in which the cause of the disease is a mutation in the TTC21B gene. phenio_relaxed_subqs.owl MONDO:0013444 biolink:NamedThing nephronophthisis 9 Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene. phenio_relaxed_subqs.owl MONDO:0013718 biolink:NamedThing nephronophthisis 13 A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14. phenio_relaxed_subqs.owl MONDO:0013916 biolink:NamedThing nephronophthisis 14 Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene. phenio_relaxed_subqs.owl MONDO:0013917 biolink:NamedThing nephronophthisis 15 Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene. phenio_relaxed_subqs.owl MONDO:0014158 biolink:NamedThing nephronophthisis 16 Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene. phenio_relaxed_subqs.owl MONDO:0014374 biolink:NamedThing nephronophthisis 18 Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene. phenio_relaxed_subqs.owl MONDO:0014537 biolink:NamedThing nephronophthisis 19 Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene. phenio_relaxed_subqs.owl MONDO:0014997 biolink:NamedThing nephronophthisis 20 Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene. phenio_relaxed_subqs.owl MONDO:0019742 biolink:NamedThing late-onset nephronophthisis phenio_relaxed_subqs.owl NCIT:C123200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_256100 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:655 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0687140 biolink:NamedThing phenio_relaxed_subqs.owl DOID:471 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019803 biolink:NamedThing angioma serpiginosum Angioma serpiginosum (AS) is a benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko. phenio_relaxed_subqs.owl NCIT:C4905 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_93471006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0687154 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000078 biolink:NamedThing acrocephalopolysyndactyly A common presentation of craniosynostosis and polysyndactyly. phenio_relaxed_subqs.owl MONDO:0007040 biolink:NamedThing Sakati-Nyhan syndrome An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections. phenio_relaxed_subqs.owl MONDO:0008711 biolink:NamedThing Goodman syndrome Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome. phenio_relaxed_subqs.owl MONDO:0019012 biolink:NamedThing Carpenter syndrome An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation. phenio_relaxed_subqs.owl OBO:SCTID_205260006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0699741 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010311 biolink:NamedThing Becker muscular dystrophy Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle. phenio_relaxed_subqs.owl UMLS:C3490459 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9883 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C570377 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008034 biolink:NamedThing muscular dystrophy, pseudohypertrophic, with Internalized capillaries phenio_relaxed_subqs.owl NCIT:C84587 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300376 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_387732009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98895 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0699744 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D010031 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27193 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0700345 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2272 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B37.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_112.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D002181 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C2914 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_72605008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007543 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0701822 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12424 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_246.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_190303007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0702159 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0949116 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1342 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006149 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_D61.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_284.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D029502 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008688 biolink:NamedThing WT limb-blood syndrome WT limb-blood syndrome is characterised by haematological anomalies (Fanconi anaemia, leukaemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant. phenio_relaxed_subqs.owl MONDO:0011469 biolink:NamedThing congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. phenio_relaxed_subqs.owl MONDO:0013851 biolink:NamedThing autosomal dominant aplasia and myelodysplasia phenio_relaxed_subqs.owl MONDO:0014317 biolink:NamedThing pancytopenia-developmental delay syndrome phenio_relaxed_subqs.owl MONDO:0018340 biolink:NamedThing hereditary isolated aplastic anemia phenio_relaxed_subqs.owl OBO:SCTID_28975000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:68383 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0728864 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10811 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_160.0 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001129 biolink:NamedThing nasal cavity olfactory neuroblastoma An olfactory neuroblastoma arising in the nasal cavity. phenio_relaxed_subqs.owl MONDO:0001130 biolink:NamedThing nasal cavity lymphoma A primary lymphoma that affects the nasal cavity and the bulk of the tumor is in this anatomic area. phenio_relaxed_subqs.owl MONDO:0003212 biolink:NamedThing nasal cavity carcinoma A carcinoma that arises from epithelial cells of the nasal cavity phenio_relaxed_subqs.owl NCIT:C4918 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_363422006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0730278 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8946 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_362.06 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_312905005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0730285 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9191 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_362.07 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_312912001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0730304 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4921 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_312937006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0740479 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002618 biolink:NamedThing undifferentiated high grade pleomorphic sarcoma of bone A rare, high-grade pleomorphic malignant neoplasm arising from the bone. It usually presents with pain which may or may not be associated with swelling in the affected area. It is characterized by the presence of spindle-shaped cells, polygonal or epithelioid cells, multinucleated giant cells, and inflammatory cells. The neoplastic cells exhibit nuclear pleomorphism and high mitotic activity. It metastasizes frequently, most often in the lungs. phenio_relaxed_subqs.owl DOID:3352 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C8563 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0740652 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050599 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_447330002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0742343 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1584 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_517.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D056586 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C138179 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_372146004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007129 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0745216 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_209.03 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4935 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_425318003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0748473 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563037 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:108100 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0748540 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006832 biolink:NamedThing limited scleroderma The least progressive form of systemic scleroderma with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The crest syndrome is a form of limited scleroderma. phenio_relaxed_subqs.owl DOID:1577 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D045745 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_299276009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001017 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0750384 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN078029 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012639 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012721 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:122700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_726543008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0751038 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001420 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C135726 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:133540 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90322 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0751039 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001415 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C135725 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:216400 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90321 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0751094 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003277 biolink:NamedThing malignant ear neoplasm A malignant neoplasm that affects the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear. phenio_relaxed_subqs.owl DOID:5101 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004428 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003275 biolink:NamedThing middle ear cancer A malignant neoplasm involving the middle ear phenio_relaxed_subqs.owl MONDO:0003278 biolink:NamedThing inner ear cancer A malignant neoplasm involving the internal ear. phenio_relaxed_subqs.owl NCIT:C9337 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_443648003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0751202 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009352 biolink:NamedThing classic homocystinuria Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system. phenio_relaxed_subqs.owl OBO:GARD_0006667 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:236200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_24308003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:394 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0751208 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010510 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C147072 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_230299004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:248111 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0751337 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010680 biolink:NamedThing X-linked Emery-Dreifuss muscular dystrophy X-linked form of Emery-Dreifuss muscular dystrophy. phenio_relaxed_subqs.owl UMLS:CN069573 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070246 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002102 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C168730 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:310300 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98863 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0751434 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79254 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0751435 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007751 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009863 biolink:NamedThing BH4-deficient hyperphenylalaninemia A An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits. phenio_relaxed_subqs.owl MONDO:0009908 biolink:NamedThing pterin-4 alpha-carbinolamine dehydratase 1 deficiency Pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1) deficiency is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency, characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCBD1 is inherited in an autosomal recessive manner. phenio_relaxed_subqs.owl OBO:SCTID_68528007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:238583 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0751547 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016848 biolink:NamedThing juvenile temporal arteritis Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of the skull, directly underneath the temple). Affected people often have no signs or symptoms aside from a painless nodule or lump in the temporal region. The exact underlying cause of the condition is unknown. It generally occurs sporadically in people with no family history of the condition. Juvenile temporal arteritis is often treated with surgical excision and rarely recurs. phenio_relaxed_subqs.owl OBO:GARD_0003068 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722020006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:26137 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0751549 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_2040007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100073 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0751587 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000914 biolink:NamedThing cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13. phenio_relaxed_subqs.owl DOID:0111035 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001049 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D046589 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84606 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:125310 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_390936003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:136 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0751748 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9268 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007219 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015010 biolink:NamedThing atypical glycine encephalopathy Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE. phenio_relaxed_subqs.owl MONDO:0017353 biolink:NamedThing neonatal glycine encephalopathy Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay. phenio_relaxed_subqs.owl MONDO:0017354 biolink:NamedThing infantile glycine encephalopathy Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures. phenio_relaxed_subqs.owl NCIT:C84937 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605899 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237939006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:407 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0751762 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024356 biolink:NamedThing primary central sleep apnea syndrome phenio_relaxed_subqs.owl OBO:ICD10CM_G47.31 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_327.21 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_9741000119101 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0751781 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007435 biolink:NamedThing dentatorubral-pallidoluysian atrophy Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation. phenio_relaxed_subqs.owl DOID:0060162 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005643 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C122653 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:125370 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_68116008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0751878 biolink:NamedThing phenio_relaxed_subqs.owl DOID:525 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020293 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0022559 biolink:NamedThing benign angiitis of the central nervous system A central nervous system vasculitis that has a benign course, with acute onset of neurologic symptoms, usually in the form of severe headache and/or a focal neurologic event. phenio_relaxed_subqs.owl NCIT:C84622 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0751882 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3635 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000098 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0011902 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020294 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000182 biolink:NamedThing congenital myasthenic syndrome with tubular aggregates A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers. phenio_relaxed_subqs.owl MONDO:0009687 biolink:NamedThing myasthenia, congenital, refractory to acetylcholinesterase inhibitors phenio_relaxed_subqs.owl MONDO:0009690 biolink:NamedThing congenital myasthenic syndrome 10 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the DOK7 gene. phenio_relaxed_subqs.owl MONDO:0011088 biolink:NamedThing congenital myasthenic syndrome 1A Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene. phenio_relaxed_subqs.owl MONDO:0011281 biolink:NamedThing congenital myasthenic syndrome 5 Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner. phenio_relaxed_subqs.owl MONDO:0012157 biolink:NamedThing congenital myasthenic syndrome 4C A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. phenio_relaxed_subqs.owl MONDO:0013620 biolink:NamedThing congenital myasthenic syndrome 16 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene. phenio_relaxed_subqs.owl MONDO:0014052 biolink:NamedThing congenital myasthenic syndrome 8 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the AGRN gene. phenio_relaxed_subqs.owl MONDO:0014468 biolink:NamedThing congenital myasthenic syndrome 7 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SYT2 gene. phenio_relaxed_subqs.owl MONDO:0014542 biolink:NamedThing congenital myasthenic syndrome 15 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene. phenio_relaxed_subqs.owl MONDO:0014578 biolink:NamedThing congenital myasthenic syndrome 17 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene. phenio_relaxed_subqs.owl MONDO:0014587 biolink:NamedThing congenital myasthenic syndrome 9 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene. phenio_relaxed_subqs.owl MONDO:0014588 biolink:NamedThing congenital myasthenic syndrome 11 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the RAPSN gene. phenio_relaxed_subqs.owl MONDO:0014590 biolink:NamedThing congenital myasthenic syndrome 18 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene. phenio_relaxed_subqs.owl MONDO:0014745 biolink:NamedThing congenital myasthenic syndrome 19 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene. phenio_relaxed_subqs.owl MONDO:0014939 biolink:NamedThing congenital myasthenic syndrome 20 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene. phenio_relaxed_subqs.owl MONDO:0014983 biolink:NamedThing congenital myasthenic syndrome 21 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene. phenio_relaxed_subqs.owl MONDO:0018144 biolink:NamedThing congenital myasthenic syndromes with glycosylation defect phenio_relaxed_subqs.owl MONDO:0020344 biolink:NamedThing postsynaptic congenital myasthenic syndrome phenio_relaxed_subqs.owl MONDO:0020345 biolink:NamedThing presynaptic congenital myasthenic syndrome phenio_relaxed_subqs.owl MONDO:0020346 biolink:NamedThing synaptic congenital myasthenic syndrome phenio_relaxed_subqs.owl MONDO:0030341 biolink:NamedThing myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive phenio_relaxed_subqs.owl MONDO:0032596 biolink:NamedThing myasthenic syndrome, congenital, 23, presynaptic phenio_relaxed_subqs.owl MONDO:0032597 biolink:NamedThing myasthenic syndrome, congenital, 24, presynaptic phenio_relaxed_subqs.owl MONDO:0032675 biolink:NamedThing myasthenic syndrome, congenital, 25, presynaptic phenio_relaxed_subqs.owl MONDO:0044299 biolink:NamedThing myasthenic syndrome, congenital, 22 phenio_relaxed_subqs.owl NCIT:C84647 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_601462 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_230672006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:590 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0751951 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007294 biolink:NamedThing central core myopathy An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation. phenio_relaxed_subqs.owl DOID:3529 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006014 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020512 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C83010 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:117000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_43152001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000855 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:597 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0752120 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008119 biolink:NamedThing spinocerebellar ataxia type 1 Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. phenio_relaxed_subqs.owl DOID:0050954 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004071 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129982 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:164400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715748006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98755 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0752121 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008458 biolink:NamedThing spinocerebellar ataxia type 2 Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. phenio_relaxed_subqs.owl DOID:0050955 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004072 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010065 biolink:NamedThing spinocerebellar degeneration with slow eye movements phenio_relaxed_subqs.owl NCIT:C148315 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:183090 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715751004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98756 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0752122 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010847 biolink:NamedThing spinocerebellar ataxia type 4 Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy. phenio_relaxed_subqs.owl DOID:0050957 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009970 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600223 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715755008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98765 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0752123 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010848 biolink:NamedThing spinocerebellar ataxia type 5 Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression. phenio_relaxed_subqs.owl DOID:0050882 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004953 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600224 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719302009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98766 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0752124 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008457 biolink:NamedThing spinocerebellar ataxia type 6 Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus. phenio_relaxed_subqs.owl DOID:0050956 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010351 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C142838 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:183086 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715752006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98758 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0752125 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008120 biolink:NamedThing spinocerebellar ataxia type 7 Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. phenio_relaxed_subqs.owl DOID:0050958 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004955 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126562 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:164500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715726000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:94147 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0752166 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1935 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006866 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020788 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008854 biolink:NamedThing Bardet-Biedl syndrome 1 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13. phenio_relaxed_subqs.owl MONDO:0010832 biolink:NamedThing Bardet-Biedl syndrome 3 phenio_relaxed_subqs.owl MONDO:0011523 biolink:NamedThing Bardet-Biedl syndrome 6 phenio_relaxed_subqs.owl MONDO:0014432 biolink:NamedThing Bardet-Biedl syndrome 2 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene. phenio_relaxed_subqs.owl MONDO:0014433 biolink:NamedThing Bardet-Biedl syndrome 4 phenio_relaxed_subqs.owl MONDO:0014434 biolink:NamedThing Bardet-Biedl syndrome 5 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene. phenio_relaxed_subqs.owl MONDO:0014435 biolink:NamedThing Bardet-Biedl syndrome 7 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene. phenio_relaxed_subqs.owl MONDO:0014436 biolink:NamedThing Bardet-Biedl syndrome 8 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene. phenio_relaxed_subqs.owl MONDO:0014437 biolink:NamedThing Bardet-Biedl syndrome 9 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene. phenio_relaxed_subqs.owl MONDO:0014438 biolink:NamedThing Bardet-Biedl syndrome 10 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene. phenio_relaxed_subqs.owl MONDO:0014439 biolink:NamedThing Bardet-Biedl syndrome 11 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene. phenio_relaxed_subqs.owl MONDO:0014440 biolink:NamedThing Bardet-Biedl syndrome 12 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene. phenio_relaxed_subqs.owl MONDO:0014441 biolink:NamedThing Bardet-Biedl syndrome 13 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene. phenio_relaxed_subqs.owl MONDO:0014442 biolink:NamedThing Bardet-Biedl syndrome 14 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21. phenio_relaxed_subqs.owl MONDO:0014443 biolink:NamedThing Bardet-Biedl syndrome 15 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene. phenio_relaxed_subqs.owl MONDO:0014444 biolink:NamedThing Bardet-Biedl syndrome 16 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene. phenio_relaxed_subqs.owl MONDO:0014445 biolink:NamedThing Bardet-Biedl syndrome 17 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene. phenio_relaxed_subqs.owl MONDO:0014446 biolink:NamedThing Bardet-Biedl syndrome 18 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene. phenio_relaxed_subqs.owl MONDO:0014447 biolink:NamedThing Bardet-Biedl syndrome 19 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene. phenio_relaxed_subqs.owl MONDO:0014926 biolink:NamedThing Bardet-Biedl syndrome 22 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene. phenio_relaxed_subqs.owl MONDO:0023670 biolink:NamedThing Bardet-Biedl syndrome 20 phenio_relaxed_subqs.owl MONDO:0044308 biolink:NamedThing bardet-biedl syndrome 21 BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900). phenio_relaxed_subqs.owl NCIT:C118632 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_209900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_5619004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:110 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0752191 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13722 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020818 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007394 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0752329 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0752330 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0752331 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020943 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007198 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0752342 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13565 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020953 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007393 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0752347 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007488 biolink:NamedThing Lewy body dementia A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease. phenio_relaxed_subqs.owl DOID:12217 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003243 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_G31.83 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84826 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:127750 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_312991009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0006792 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1648 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795800 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016952 biolink:NamedThing partial duplication of the long arm of chromosome 1 phenio_relaxed_subqs.owl OBO:GARD_0010831 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012915 biolink:NamedThing chromosome 1q21.1 duplication syndrome Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual. phenio_relaxed_subqs.owl MONDO:0016847 biolink:NamedThing trisomy 1q Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections. phenio_relaxed_subqs.owl NCIT:C36521 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:262833 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795803 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016939 biolink:NamedThing partial duplication of the short arm of chromosome 2 Chromosome 2p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. phenio_relaxed_subqs.owl OBO:GARD_0005337 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538318 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019871 biolink:NamedThing distal trisomy 2p Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies. phenio_relaxed_subqs.owl ORPHA:262698 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795805 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016953 biolink:NamedThing partial duplication of the long arm of chromosome 2 Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. phenio_relaxed_subqs.owl OBO:GARD_0005340 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535367 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008512 biolink:NamedThing syndactyly type 1 Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes. phenio_relaxed_subqs.owl MONDO:0013363 biolink:NamedThing chromosome 2q31.1 duplication syndrome phenio_relaxed_subqs.owl MONDO:0017786 biolink:NamedThing 2q23.1 microduplication syndrome 2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported. phenio_relaxed_subqs.owl MONDO:0019877 biolink:NamedThing distal trisomy 2q Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed. phenio_relaxed_subqs.owl ORPHA:262842 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795809 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016954 biolink:NamedThing partial duplication of the long arm of chromosome 3 Chromosome 3q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on thelong arm (q) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person. phenio_relaxed_subqs.owl OBO:GARD_0005345 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536813 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012761 biolink:NamedThing chromosome 3q29 microduplication syndrome 3q29 microduplication is a chromosomal abnormality associated with variable clinical findings including mild or moderate intellectual deficit and microcephaly. phenio_relaxed_subqs.owl MONDO:0019878 biolink:NamedThing 3q26 microduplication syndrome 3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations. phenio_relaxed_subqs.owl ORPHA:262851 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795812 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016955 biolink:NamedThing partial duplication of the long arm of chromosome 4 Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically. Treatment is based on the signs and symptoms present in each person. phenio_relaxed_subqs.owl DOID:0111159 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005347 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537644 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013319 biolink:NamedThing chromosome 4Q32.1-q32.2 triplication syndrome phenio_relaxed_subqs.owl MONDO:0019879 biolink:NamedThing distal trisomy 4q Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported. phenio_relaxed_subqs.owl ORPHA:262860 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795820 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016944 biolink:NamedThing partial duplication of the short arm of chromosome 7 Chromosome 7p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. phenio_relaxed_subqs.owl OBO:GARD_0005355 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537819 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017792 biolink:NamedThing 7p22.1 microduplication syndrome 7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated. phenio_relaxed_subqs.owl MONDO:0019874 biolink:NamedThing distal trisomy 7p Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported. phenio_relaxed_subqs.owl ORPHA:262749 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795821 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016958 biolink:NamedThing partial duplication of the long arm of chromosome 7 Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. phenio_relaxed_subqs.owl OBO:GARD_0005357 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537821 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012342 biolink:NamedThing 7q11.23 microduplication syndrome 7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioural problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported. phenio_relaxed_subqs.owl ORPHA:262887 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795822 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009698 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535296 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:179613 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718189004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:96167 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795829 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015772 biolink:NamedThing trisomy 8q Trisomy 8q is a very rare disorder characterized by duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, craniofacial abnormalities (prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips), congenital heart defects, skeletal defects, psychomotor retardation. Phenotypic features vary in relation to the duplication size. phenio_relaxed_subqs.owl OBO:GARD_0005362 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538020 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C36428 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1752 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795832 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018030 biolink:NamedThing tetrasomy 9p Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism). phenio_relaxed_subqs.owl OBO:GARD_0000042 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538027 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715530004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3310 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795841 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111723 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000307 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C75457 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:147791 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715438008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2308 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795844 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0022174 biolink:NamedThing chromosome 12p deletion A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12. phenio_relaxed_subqs.owl OBO:GARD_0006068 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538301 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538302 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017229 biolink:NamedThing distal monosomy 12p Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. phenio_relaxed_subqs.owl MONDO:0017781 biolink:NamedThing 12p12.1 microdeletion syndrome phenio_relaxed_subqs.owl NCIT:C36410 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:316244 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795845 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015723 biolink:NamedThing trisomy 12p Trisomy 12p is an extremely rare chromosomal disorder (over 30 cases reported worldwide) characterized by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, mental and psychomotor retardation, generalized hypotonia, abnormally short wide hands and/or other abnormalities. phenio_relaxed_subqs.owl OBO:GARD_0005305 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538299 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1699 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795846 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0042969 biolink:NamedThing partial duplication of the long arm of chromosome 12 Chromosome 12q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 12. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 12q duplication include developmental delay, intellectual disability, behavioral problems, growth delay, and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. phenio_relaxed_subqs.owl OBO:GARD_0001926 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795858 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016965 biolink:NamedThing partial duplication of the long arm of chromosome 15 Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures ; high and/or cleft palate (roof of the mouth); scoliosis ; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. phenio_relaxed_subqs.owl OBO:GARD_0005314 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538040 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017806 biolink:NamedThing 15q overgrowth syndrome 15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly. phenio_relaxed_subqs.owl ORPHA:262950 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795861 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016949 biolink:NamedThing partial duplication of the short arm of chromosome 16 Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 16p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. phenio_relaxed_subqs.owl OBO:GARD_0005315 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011402 biolink:NamedThing congenital cataracts-facial dysmorphism-neuropathy syndrome Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance. phenio_relaxed_subqs.owl MONDO:0013273 biolink:NamedThing chromosome 16p13.3 duplication syndrome 16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioural problems. phenio_relaxed_subqs.owl MONDO:0013847 biolink:NamedThing chromosome 16p11.2 duplication syndrome Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life. phenio_relaxed_subqs.owl MONDO:0016834 biolink:NamedThing 16p11.2p12.2 microduplication syndrome 16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behaviour, behavioural problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described. phenio_relaxed_subqs.owl MONDO:0016837 biolink:NamedThing 16p13.11 microduplication syndrome 16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. phenio_relaxed_subqs.owl MONDO:0044621 biolink:NamedThing 16p12.1p12.3 triplication syndrome 16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers. phenio_relaxed_subqs.owl ORPHA:262794 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795864 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008434 biolink:NamedThing Smith-Magenis syndrome Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay. phenio_relaxed_subqs.owl DOID:0060768 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008197 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D058496 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C75469 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:182290 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_401315004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:819 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795865 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016840 biolink:NamedThing trisomy 17p Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features. phenio_relaxed_subqs.owl OBO:GARD_0005318 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538048 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717049005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261290 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795868 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013668 biolink:NamedThing tetrasomy 18p Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations. phenio_relaxed_subqs.owl OBO:GARD_0000035 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538306 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614290 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_698849002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3307 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795871 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016969 biolink:NamedThing partial duplication of the long arm of chromosome 19 phenio_relaxed_subqs.owl OBO:GARD_0005326 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538311 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015744 biolink:NamedThing distal trisomy 19q Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations. phenio_relaxed_subqs.owl ORPHA:262986 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795873 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010364 biolink:NamedThing X-linked intellectual disability-retinitis pigmentosa syndrome X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait. phenio_relaxed_subqs.owl OBO:GARD_0008360 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300578 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719808002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:85332 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795875 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018930 biolink:NamedThing monosomy 21 Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit. phenio_relaxed_subqs.owl OBO:GARD_0010860 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537108 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C36469 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:574 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795884 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018026 biolink:NamedThing tetraploidy syndrome The presence of four sets of chromosomes. It is associated with abnormalities, multiple; and miscarrages. phenio_relaxed_subqs.owl OBO:GARD_0005151 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D057891 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_726363000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3305 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795887 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010399 biolink:NamedThing chromosome Xp21 deletion syndrome phenio_relaxed_subqs.owl DOID:0060427 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300679 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_297257004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261476 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795889 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050631 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005617 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537047 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C118843 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300523 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702327009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:59 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795895 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000605 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537051 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:203550 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795898 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007337 biolink:NamedThing cleft palate-lateral synechia syndrome Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner. phenio_relaxed_subqs.owl DOID:0080313 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001391 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563047 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:119550 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_403772000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2016 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795902 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007355 biolink:NamedThing uveal coloboma-cleft lip and palate-intellectual disability Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant. phenio_relaxed_subqs.owl DOID:0111249 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001440 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535971 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:120433 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1473 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795905 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009406 biolink:NamedThing hypertrichotic osteochondrodysplasia Cantu type Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism. phenio_relaxed_subqs.owl DOID:0060569 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008585 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535572 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:239850 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_239087008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1517 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795949 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080694 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000065 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537548 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0030471 biolink:NamedThing Galloway-Mowat syndrome 9 phenio_relaxed_subqs.owl MONDO:0030476 biolink:NamedThing Galloway-Mowat syndrome 10 phenio_relaxed_subqs.owl MONDO:0032691 biolink:NamedThing Galloway-Mowat syndrome 6 phenio_relaxed_subqs.owl MONDO:0032692 biolink:NamedThing Galloway-Mowat syndrome 7 phenio_relaxed_subqs.owl MONDO:0032693 biolink:NamedThing Galloway-Mowat syndrome 8 phenio_relaxed_subqs.owl MONDO:0033005 biolink:NamedThing Galloway-Mowat syndrome 1 phenio_relaxed_subqs.owl MONDO:0033006 biolink:NamedThing Galloway-Mowat syndrome 2, X-linked phenio_relaxed_subqs.owl MONDO:0033007 biolink:NamedThing Galloway-Mowat syndrome 3 phenio_relaxed_subqs.owl MONDO:0033008 biolink:NamedThing Galloway-Mowat syndrome 4 phenio_relaxed_subqs.owl MONDO:0033009 biolink:NamedThing Galloway-Mowat syndrome 5 phenio_relaxed_subqs.owl NCIT:C132195 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_251300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721297008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2065 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795950 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000902 biolink:NamedThing agenesis of the corpus callosum with peripheral neuropathy Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait. phenio_relaxed_subqs.owl DOID:0060600 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090003 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001537 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536446 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:218000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702439002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1496 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795953 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010559 biolink:NamedThing MASA syndrome MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles. phenio_relaxed_subqs.owl DOID:0060246 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006986 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129930 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:303350 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716996008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2466 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795956 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060357 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009683 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535460 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:246700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702364003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:71 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795969 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012997 biolink:NamedThing cholestasis-pigmentary retinopathy-cleft palate syndrome Cholestasis- pigmentary retinopathy- cleft palate is a syndrome of multiple congenital malformations, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis etc) have also been reported. An overlap with Kabuki syndrome is debated. phenio_relaxed_subqs.owl OBO:GARD_0009280 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535632 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612726 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720636001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1415 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0795998 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007400 biolink:NamedThing Jackson-Weiss syndrome Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients. phenio_relaxed_subqs.owl DOID:0111337 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006796 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537559 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C123814 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:123150 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_709105005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1540 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000309 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715432009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796002 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000378 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535882 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:147770 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721584005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2316 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796004 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016512 biolink:NamedThing Kabuki syndrome Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency. phenio_relaxed_subqs.owl DOID:0060473 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006810 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537705 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007843 biolink:NamedThing Kabuki syndrome 1 phenio_relaxed_subqs.owl MONDO:0010465 biolink:NamedThing Kabuki syndrome 2 phenio_relaxed_subqs.owl NCIT:C124837 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_147920 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_313426007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2322 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796005 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009483 biolink:NamedThing kapur-Toriello syndrome Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation. phenio_relaxed_subqs.owl OBO:GARD_0003078 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537008 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:244300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722031003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2328 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796010 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008420 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537708 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:245180 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796012 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070312 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080201 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008422 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537617 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C123436 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:261540 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_449817000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:709 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796013 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000385 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536725 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014646 biolink:NamedThing Zimmermann-Laband syndrome 2 Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the ATP6V1B2 gene. phenio_relaxed_subqs.owl MONDO:0024526 biolink:NamedThing Zimmermann-Laband syndrome 1 Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNH1 gene. phenio_relaxed_subqs.owl MONDO:0032854 biolink:NamedThing zimmermann-laband syndrome 3 phenio_relaxed_subqs.owl OBO:OMIMPS_135500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_699447001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3473 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796019 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010046 biolink:NamedThing hereditary spastic paraplegia 23 Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. phenio_relaxed_subqs.owl DOID:0110774 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000336 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536859 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:270750 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_726608002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796023 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563080 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:247950 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796028 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010533 biolink:NamedThing Arts syndrome Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy. phenio_relaxed_subqs.owl DOID:0050647 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008756 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535388 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:301835 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702441001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1187 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796031 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796083 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111584 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003373 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:212112 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719451006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2229 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796036 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008745 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535913 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:248810 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796037 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:8000008 biolink:NamedThing Martsolf syndrome 1 This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. phenio_relaxed_subqs.owl DOID:0111586 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003406 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536028 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:212720 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722380003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1387 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796055 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009585 biolink:NamedThing encephalopathy due to beta-mercaptolactate-cysteine disulfiduria phenio_relaxed_subqs.owl OBO:GARD_0000654 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563085 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:249650 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1035 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796056 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563086 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:208870 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796057 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563087 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:249670 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796063 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009622 biolink:NamedThing Jawad syndrome Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated. phenio_relaxed_subqs.owl OMIM:251255 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:313795 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796066 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009621 biolink:NamedThing microcephaly-cervical spine fusion anomalies syndrome Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive. phenio_relaxed_subqs.owl OBO:GARD_0003610 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537325 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:251250 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715462003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2522 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796074 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010578 biolink:NamedThing deafness dystonia syndrome Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards. phenio_relaxed_subqs.owl DOID:0050757 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008331 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535808 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:304700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702423009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:52368 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796076 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535809 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:223540 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2650 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796081 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007688 biolink:NamedThing Myhre syndrome Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients. phenio_relaxed_subqs.owl OBO:GARD_0002572 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537620 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C123815 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:139210 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_699316006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2588 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796089 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009760 biolink:NamedThing Norman-Roberts syndrome Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation. phenio_relaxed_subqs.owl DOID:0060902 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003277 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:257320 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717977003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:89844 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796092 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008108 biolink:NamedThing oculocerebrocutaneous syndrome Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations. phenio_relaxed_subqs.owl OBO:GARD_0000106 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538088 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:164180 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_403554008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1647 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796093 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004054 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537742 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:257980 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_403762003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2721 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796099 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008992 biolink:NamedThing Juberg-Hayward syndrome Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. phenio_relaxed_subqs.owl OBO:GARD_0003060 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537690 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:216100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721874001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2319 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796110 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010708 biolink:NamedThing Pallister-W syndrome W syndrome is characterised by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant. phenio_relaxed_subqs.owl OBO:GARD_0000358 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538106 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:311450 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719020006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2804 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796113 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060476 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003936 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536399 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C103144 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:267000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722231005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2849 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796117 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008684 biolink:NamedThing Wolf-Hirschhorn syndrome Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. phenio_relaxed_subqs.owl UMLS:C0796202 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1956097 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207113 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050460 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007896 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D054877 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35528 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:194190 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718226002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:280 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796118 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004395 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536323 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796124 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010224 biolink:NamedThing corpus callosum agenesis-abnormal genitalia syndrome Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed. phenio_relaxed_subqs.owl OBO:GARD_0004528 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563110 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300004 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763797003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2508 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796125 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008694 biolink:NamedThing pseudoprogeria syndrome Pseudoprogeria is characterised by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers. phenio_relaxed_subqs.owl OBO:GARD_0000415 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563111 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:200130 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733086003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2985 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796126 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009165 biolink:NamedThing Aicardi-Goutieres syndrome 1 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the TREX1 gene. phenio_relaxed_subqs.owl OBO:GARD_0010893 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:225750 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796133 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007523 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535285 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:266270 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3019 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796139 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009148 biolink:NamedThing Rosselli-Gulienetti syndrome A rare congenital ectodermal dysplasia syndrome with a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance, and caused by a mutation affecting the TP63 gene phenio_relaxed_subqs.owl OBO:MESH_C563117 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:225000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90339 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796142 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010007 biolink:NamedThing microbrachycephaly-ptosis-cleft lip syndrome Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive. phenio_relaxed_subqs.owl OBO:GARD_0003596 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:268850 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2511 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796147 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008708 biolink:NamedThing acrocallosal syndrome Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit. phenio_relaxed_subqs.owl DOID:9250 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005721 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D055673 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84531 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:200990 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715951007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:36 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796149 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009885 biolink:NamedThing Scott syndrome Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity. phenio_relaxed_subqs.owl DOID:0111052 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004777 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563120 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:262890 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_128098009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:806 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796173 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004994 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535799 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C135088 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:271700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702339001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1856 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796179 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0800025 biolink:NamedThing Teebi hypertelorism syndrome 1 A rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes. phenio_relaxed_subqs.owl UMLS:CN199596 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000957 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:145420 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724284005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1519 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796184 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009021 biolink:NamedThing Toriello-Carey syndrome Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia. phenio_relaxed_subqs.owl OBO:GARD_0005225 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563127 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:217980 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722477003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3338 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796197 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007200 biolink:NamedThing blepharonasofacial malformation syndrome Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability. phenio_relaxed_subqs.owl OBO:GARD_0004238 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536303 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:110050 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717913006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1252 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796203 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014096 biolink:NamedThing microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome This syndrome is characterised by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes). phenio_relaxed_subqs.owl OBO:GARD_0003498 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615236 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719396000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:137658 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796208 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010657 biolink:NamedThing methylmalonic acidemia with homocystinuria, type cblX phenio_relaxed_subqs.owl OBO:GARD_0013137 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563136 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:309541 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:369962 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796232 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011510 biolink:NamedThing Bohring-Opitz syndrome Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported. phenio_relaxed_subqs.owl OBO:GARD_0010140 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537419 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131533 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605039 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720565000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:97297 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796254 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010574 biolink:NamedThing syndromic X-linked intellectual disability 5 X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. phenio_relaxed_subqs.owl UMLS:CN206181 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008520 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C124839 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:304340 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719139003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1568 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:85329 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796264 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017614 biolink:NamedThing X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982. phenio_relaxed_subqs.owl OBO:GARD_0000345 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536715 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3055 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796271 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000313 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536320 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:211390 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3123 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796272 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010407 biolink:NamedThing intellectual disability, X-linked syndromic, Turner type An X-linked syndromic intellectual disability characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant. phenio_relaxed_subqs.owl UMLS:C2678046 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060811 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060829 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005604 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005610 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563154 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567476 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300612 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300706 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:309590 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_725912001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3056 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:85328 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796275 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010379 biolink:NamedThing Brunner syndrome Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood. phenio_relaxed_subqs.owl DOID:0060693 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003531 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563156 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300615 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718210003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3057 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796282 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537959 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:211770 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722379001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1375 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796418 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004107 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C8567 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2086 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796466 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_D46.A biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C8574 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_415285009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:86836 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796663 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003758 biolink:NamedThing childhood testicular germ cell tumor A germ cell tumor that arises from the testis during childhood. phenio_relaxed_subqs.owl DOID:6082 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003787 biolink:NamedThing childhood testicular mixed germ cell cancer A malignant mixed germ cell neoplasm that arises from the testis during childhood. phenio_relaxed_subqs.owl NCIT:C6552 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0796664 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6084 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C8588 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0809935 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016968 biolink:NamedThing partial trisomy of the long arm of chromosome 18 phenio_relaxed_subqs.owl OBO:GARD_0005324 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538308 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015741 biolink:NamedThing distal trisomy 18q phenio_relaxed_subqs.owl ORPHA:262977 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0812378 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237083000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0848548 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_403.90 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563161 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4757 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608026 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_38481006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0851689 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0045072 biolink:NamedThing ectopic hormone secretion syndrome associated with neoplasia Abnormal secretion of hormones in conjunction with neoplastic growth occurring anywhere in the body. phenio_relaxed_subqs.owl NCIT:C4065 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0851693 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3163678 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5716 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7047 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_448148000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0851886 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005923 biolink:NamedThing Pneumocystis infectious disease Infections with species in the genus pneumocystis, a fungus causing interstitial plasma cell pneumonia (pneumonia, pneumocystis) and other infections in humans and other mammals. Immunocompromised patients, especially those with aids, are particularly susceptible to these infections. Extrapulmonary sites are rare but seen occasionally. phenio_relaxed_subqs.owl OBO:MESH_D016720 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007447 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0852077 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226819 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2214 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D025861 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001549 biolink:NamedThing hemolytic-uremic syndrome Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia. phenio_relaxed_subqs.owl MONDO:0007595 biolink:NamedThing factor VII and Factor VIII, combined deficiency of phenio_relaxed_subqs.owl MONDO:0008552 biolink:NamedThing platelet-type bleeding disorder 16 An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32. phenio_relaxed_subqs.owl MONDO:0008558 biolink:NamedThing autoimmune thrombocytopenic purpura An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin. phenio_relaxed_subqs.owl MONDO:0009206 biolink:NamedThing factor V and factor VIII, combined deficiency of, type 1 Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene. phenio_relaxed_subqs.owl MONDO:0009210 biolink:NamedThing congenital factor V deficiency Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms. phenio_relaxed_subqs.owl MONDO:0009234 biolink:NamedThing congenital high-molecular-weight kininogen deficiency A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis. phenio_relaxed_subqs.owl MONDO:0009609 biolink:NamedThing methylcobalamin deficiency type cblG Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine. phenio_relaxed_subqs.owl MONDO:0009883 biolink:NamedThing alpha-2-plasmin inhibitor deficiency Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner. phenio_relaxed_subqs.owl MONDO:0010097 biolink:NamedThing Tatsumi factor deficiency phenio_relaxed_subqs.owl MONDO:0010122 biolink:NamedThing congenital thrombotic thrombocytopenic purpura Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity. phenio_relaxed_subqs.owl MONDO:0010604 biolink:NamedThing hemophilia B Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency. phenio_relaxed_subqs.owl MONDO:0011588 biolink:NamedThing platelet-type bleeding disorder 12 An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity. phenio_relaxed_subqs.owl MONDO:0012031 biolink:NamedThing platelet-type bleeding disorder 10 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the CD36 gene. phenio_relaxed_subqs.owl MONDO:0012354 biolink:NamedThing platelet-type bleeding disorder 8 P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate. phenio_relaxed_subqs.owl MONDO:0012465 biolink:NamedThing hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI. phenio_relaxed_subqs.owl MONDO:0012901 biolink:NamedThing inherited prekallikrein deficiency An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0013187 biolink:NamedThing factor XIII, A subunit, deficiency of phenio_relaxed_subqs.owl MONDO:0013190 biolink:NamedThing factor XIII, b subunit, deficiency of phenio_relaxed_subqs.owl MONDO:0013227 biolink:NamedThing congenital plasminogen activator inhibitor type 1 deficiency Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency. phenio_relaxed_subqs.owl MONDO:0013331 biolink:NamedThing factor 5 and Factor VIII, combined deficiency of, 2 Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene. phenio_relaxed_subqs.owl MONDO:0014386 biolink:NamedThing platelet-type bleeding disorder 18 Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported. phenio_relaxed_subqs.owl MONDO:0015722 biolink:NamedThing congenital vitamin K-dependent coagulation factors deficiency Congenital vitamin K-dependent coagulation factors deficiency involving multiple coagulation factors. phenio_relaxed_subqs.owl MONDO:0017837 biolink:NamedThing multiple sclerosis-ichthyosis-factor VIII deficiency syndrome Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. phenio_relaxed_subqs.owl MONDO:0018000 biolink:NamedThing hereditary thrombocytosis with transverse limb defect Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly. phenio_relaxed_subqs.owl MONDO:0018047 biolink:NamedThing familial thrombomodulin anomalies phenio_relaxed_subqs.owl MONDO:0018794 biolink:NamedThing cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder phenio_relaxed_subqs.owl MONDO:0019111 biolink:NamedThing familial thrombocytosis Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation. phenio_relaxed_subqs.owl MONDO:0019138 biolink:NamedThing bleeding diathesis due to a collagen receptor defect phenio_relaxed_subqs.owl MONDO:0100240 biolink:NamedThing inherited thrombophilia An instance of thrombophilia that is inherited. phenio_relaxed_subqs.owl MONDO:0100326 biolink:NamedThing Glanzmann thrombasthenia phenio_relaxed_subqs.owl ORPHA:183654 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0852937 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10183 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5063 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0853394 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8427 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C8601 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_423673009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0853715 biolink:NamedThing phenio_relaxed_subqs.owl DOID:476 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5353 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0853870 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003740 biolink:NamedThing AIDS phobia An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome. phenio_relaxed_subqs.owl DOID:603 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35614 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001873 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0854214 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14559 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_320.81 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_445059005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0854328 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006765 biolink:NamedThing Fusobacterium infectious disease Infections with bacteria of the genus fusobacterium. phenio_relaxed_subqs.owl MONDO:0024388 biolink:NamedThing Clostridium infectious disease Infections with bacteria of the genus clostridium. phenio_relaxed_subqs.owl MONDO:0024410 biolink:NamedThing infection caused by Bifidobacterium A disease caused by infection with Bifidobacterium. phenio_relaxed_subqs.owl MONDO:0024412 biolink:NamedThing Peptostreptococcus infectious disease A disease caused by infection with Peptostreptococcus. phenio_relaxed_subqs.owl OBO:SCTID_423451008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0854331 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9123 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B00.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_054.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007617 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35620 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_186535001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0854359 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0040100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010808 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_408539000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:411593 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0854486 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5395 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003837 biolink:NamedThing TSH producing pituitary tumor An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces thyrotropin. phenio_relaxed_subqs.owl NCIT:C8388 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314753 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0854488 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5501 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000154 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0854511 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017592 biolink:NamedThing staphylococcal toxemia phenio_relaxed_subqs.owl MONDO:0018180 biolink:NamedThing staphylococcal scarlet fever phenio_relaxed_subqs.owl MONDO:0018183 biolink:NamedThing staphylococcal necrotizing pneumonia Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated. phenio_relaxed_subqs.owl ORPHA:300579 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0854995 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000380 biolink:NamedThing paranasal sinus carcinoma A malignant epithelial neoplasm arising in the paranasal sinus. phenio_relaxed_subqs.owl DOID:0050619 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001758 biolink:NamedThing paranasal sinus sarcoma A malignant soft tissue neoplasm that arises from the paranasal sinus. phenio_relaxed_subqs.owl MONDO:0006352 biolink:NamedThing paranasal sinus adenoid cystic carcinoma A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases. phenio_relaxed_subqs.owl MONDO:0044956 biolink:NamedThing paranasal sinus mucoepidermoid carcinoma A rare carcinoma that arises from the paranasal sinus. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. phenio_relaxed_subqs.owl NCIT:C6014 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0855011 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5862 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C8778 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0855173 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2024 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C8893 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_448401007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000479 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0855197 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003510 biolink:NamedThing malignant testicular germ cell tumor A malignant tumor predominantly affecting young men and often associated with cryptorchidism. Seminoma is the most frequently seen malignant testicular germ cell tumor, followed by embryonal carcinoma and yolk sac tumor. phenio_relaxed_subqs.owl DOID:5556 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003120 biolink:NamedThing mixed testicular germ cell cancer A malignant germ cell tumor that arises from the testis and is characterized by the presence of more than one histologic component. Representative examples include mixed choriocarcinoma and embryonal carcinoma, mixed embryonal carcinoma and seminoma, and mixed yolk sac tumor and teratoma. phenio_relaxed_subqs.owl MONDO:0003403 biolink:NamedThing testicular non-seminomatous germ cell cancer A classification of testicular cancers that arise in specialized sex cells called germ cells. Nonseminomas include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac tumor. phenio_relaxed_subqs.owl MONDO:0003669 biolink:NamedThing testicular seminoma A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma. phenio_relaxed_subqs.owl MONDO:0004401 biolink:NamedThing testis refractory cancer Malignant testicular germ cell tumor that is resistant to treatment. phenio_relaxed_subqs.owl MONDO:0004442 biolink:NamedThing testis polyembryoma A rare malignant germ cell tumor that arises from the testis and is characterized by the presence of embryoid bodies. phenio_relaxed_subqs.owl MONDO:0021282 biolink:NamedThing malignant teratoma of testis A malignant teratoma that involves the testis. phenio_relaxed_subqs.owl NCIT:C9063 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_713646001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0856897 biolink:NamedThing phenio_relaxed_subqs.owl DOID:492 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27018 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0859960 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003827 biolink:NamedThing transient hypogammaglobulinemia A broad classification for humoral immunodeficiencies. These disorders may be caused by inadequate activation of progenitor B cells, defective class-switching or the effects of medications. Despite the potential for increased susceptibility to infection, these disorders are self-limited with eventual normalization of serum antibody levels. phenio_relaxed_subqs.owl DOID:625 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27319 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0860251 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563164 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:142350 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0862878 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005013 biolink:NamedThing dedifferentiated chondrosarcoma An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor. phenio_relaxed_subqs.owl NCIT:C6476 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_DDCHS biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000394 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0863027 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003124 biolink:NamedThing testicular Leydig cell tumor A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics. phenio_relaxed_subqs.owl DOID:4756 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003737 biolink:NamedThing malignant testicular Leydig cell tumor A Leydig cell tumor characterized by a large size, cellular atypia, high mitotic activity, vascular invasion and necrotic changes. The prognosis is usually poor. phenio_relaxed_subqs.owl NCIT:C6356 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_67871000119105 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000569 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0877024 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009458 biolink:NamedThing Schimke immuno-osseous dysplasia Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome. phenio_relaxed_subqs.owl DOID:0060490 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004984 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536629 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C135087 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:242900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723995003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1830 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0877388 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6621 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5433 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0877431 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563167 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:133600 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0877445 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0044070 biolink:NamedThing candidemia A form of invasive candidiasis where species of candida are present in the blood. phenio_relaxed_subqs.owl OBO:MESH_D058387 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_432261003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001311 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0877572 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004185 biolink:NamedThing ovarian serous cystadenofibroma A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. phenio_relaxed_subqs.owl DOID:7320 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40032 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0877611 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002988 biolink:NamedThing cervix melanoma An aggressive malignant tumor of melanocytic origin that arises from the cervix. phenio_relaxed_subqs.owl DOID:4413 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009664 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40239 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0878654 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009461 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538274 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0878675 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018153 biolink:NamedThing Erdheim-Chester disease Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement. phenio_relaxed_subqs.owl DOID:4329 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006369 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D031249 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C53972 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_ECD biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_699537002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000926 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:35687 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0878676 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090106 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005682 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535325 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C138171 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:261640 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237914002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:13 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0878677 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050437 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009730 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D052120 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84735 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300257 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_419097006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001333 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:34587 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0878681 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015612 biolink:NamedThing Dent disease Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction. phenio_relaxed_subqs.owl UMLS:CN239269 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050699 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013105 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D057973 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010225 biolink:NamedThing Dent disease type 1 Dent disease type 1 is a type of Dent disease with predominantly renal manifestations. phenio_relaxed_subqs.owl MONDO:0010359 biolink:NamedThing Dent disease type 2 Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features. phenio_relaxed_subqs.owl NCIT:C123260 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_300009 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_444645005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1652 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0878683 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:262600 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0878684 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111454 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007633 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537327 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:269880 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3163 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0917715 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930971 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2736 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000508 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C531695 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535663 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537586 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84745 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:102500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_63122002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:955 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0917796 biolink:NamedThing phenio_relaxed_subqs.owl DOID:705 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006870 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D029242 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010640 biolink:NamedThing Leber optic atrophy, susceptibility to phenio_relaxed_subqs.owl MONDO:0010772 biolink:NamedThing Leber optic atrophy and dystonia phenio_relaxed_subqs.owl NCIT:C84808 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:535000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_58610003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:104 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0917800 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605021 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:352582 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0917890 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008207 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6966 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_PINC biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_255045009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000476 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:251912 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0919746 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0011909 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C63324 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_426768001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0940607 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10655 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5493 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0947622 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11151 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D041761 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000864 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0947939 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001667 biolink:NamedThing streptobacillus infectious disease phenio_relaxed_subqs.owl OBO:SCTID_721738002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0948089 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D054058 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C53652 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_394659003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005672 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0948187 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019804 biolink:NamedThing tracheomalacia Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months. phenio_relaxed_subqs.owl DOID:0060313 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010515 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C98634 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_95467005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:95430 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0948740 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004201 biolink:NamedThing pituitary hypoplasia Incomplete development of the pituitary gland. phenio_relaxed_subqs.owl DOID:7378 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27343 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0949506 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019141 biolink:NamedThing porokeratosis of Mibelli Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border. phenio_relaxed_subqs.owl OBO:GARD_0004438 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008290 biolink:NamedThing porokeratosis 1, Mibelli type phenio_relaxed_subqs.owl MONDO:0008293 biolink:NamedThing porokeratosis 3, disseminated superficial actinic type phenio_relaxed_subqs.owl OBO:SCTID_80432009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:735 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0949595 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009299 biolink:NamedThing 46 XX gonadal dysgenesis 46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation. phenio_relaxed_subqs.owl DOID:14450 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D023961 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012734 biolink:NamedThing SERKAL syndrome SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. phenio_relaxed_subqs.owl MONDO:0013689 biolink:NamedThing ovarian dysgenesis 3 Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene. phenio_relaxed_subqs.owl MONDO:0020857 biolink:NamedThing ovarian dysgenesis 7 phenio_relaxed_subqs.owl MONDO:0024463 biolink:NamedThing ovarian dysgenesis 1 phenio_relaxed_subqs.owl MONDO:0030506 biolink:NamedThing ovarian dysgenesis 9 phenio_relaxed_subqs.owl MONDO:0030736 biolink:NamedThing ovarian dysgenesis 10 phenio_relaxed_subqs.owl MONDO:0032590 biolink:NamedThing ovarian dysgenesis 8 phenio_relaxed_subqs.owl MONDO:0054666 biolink:NamedThing ovarian dysgenesis 5 phenio_relaxed_subqs.owl MONDO:0054850 biolink:NamedThing ovarian dysgenesis 6 phenio_relaxed_subqs.owl NCIT:C120197 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_233300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_95198001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:243 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0949804 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005927 biolink:NamedThing polyomavirus infectious disease Infections with polyomavirus, which are often cultured from the urine of kidney transplant patients. Excretion of bk virus is associated with ureteral strictures and cystitis, and that of jc virus with progressive multifocal leukoencephalopathy (leukoencephalopathy, progressive multifocal). phenio_relaxed_subqs.owl OBO:MESH_D027601 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007451 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0949885 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D029021 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007431 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0950112 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D030243 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0950121 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151568 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3764 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005576 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D030321 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84668 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:194080 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_236385009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:220 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0950122 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050438 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002375 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D052159 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C122805 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:136680 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_445431000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:347 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C0969753 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005876 biolink:NamedThing Nidovirales infectious disease Infections with viruses of the order nidovirales. The concept includes arterivirus infections and coronaviridae infections. phenio_relaxed_subqs.owl OBO:MESH_D030341 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007396 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1096155 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012124 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D055501 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C114471 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_430478003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001806 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:158061 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1096168 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015730 biolink:NamedThing mosaic trisomy 17 Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported. phenio_relaxed_subqs.owl OBO:GARD_0005317 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538044 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C37865 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764622004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1711 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1096283 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721759009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1096562 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_135341000119101 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1096638 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002702 biolink:NamedThing ovarian cystadenocarcinoma An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma. phenio_relaxed_subqs.owl DOID:3605 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5228 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_314191009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001962 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1096903 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011449 biolink:NamedThing Salla disease Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive. phenio_relaxed_subqs.owl OBO:GARD_0004754 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85067 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604369 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_87074006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309334 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1112474 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7134 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6762 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1112570 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_L10.81 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0008602 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:63455 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1135821 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D031261 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1135841 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D031368 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_449783002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001827 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1135868 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018944 biolink:NamedThing gestational trophoblastic neoplasm A diverse group of pregnancy-related tumors characterized by excessive proliferation of trophoblasts. Representative examples include hydatidiform mole, gestational choriocarcinoma, and placental site trophoblastic tumor. phenio_relaxed_subqs.owl DOID:3590 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006498 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016787 biolink:NamedThing epithelioid trophoblastic tumor An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT) which generally occurs several years after pregnancy. phenio_relaxed_subqs.owl NCIT:C4699 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_609519004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:59305 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1135869 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D031941 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007539 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1135993 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3530 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D034081 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1136339 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D039941 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000873 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1138434 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2828000 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050735 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D040181 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010222 biolink:NamedThing X-linked Opitz G/BBB syndrome X-linked form of Opitz G/BBB syndrome. phenio_relaxed_subqs.owl MONDO:0010243 biolink:NamedThing X-linked immunoneurologic disorder X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males. phenio_relaxed_subqs.owl MONDO:0010294 biolink:NamedThing X-linked severe congenital neutropenia This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein. phenio_relaxed_subqs.owl MONDO:0010371 biolink:NamedThing Aland island eye disease An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia. phenio_relaxed_subqs.owl MONDO:0010420 biolink:NamedThing X-linked erythropoietic protoporphyria X-linked form of erythropoietic protoporphyria. phenio_relaxed_subqs.owl MONDO:0010475 biolink:NamedThing X-linked central congenital hypothyroidism with late-onset testicular enlargement An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency. phenio_relaxed_subqs.owl MONDO:0010485 biolink:NamedThing X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus. phenio_relaxed_subqs.owl MONDO:0010491 biolink:NamedThing X-linked acrogigantism due to Xq26 microduplication phenio_relaxed_subqs.owl MONDO:0010567 biolink:NamedThing cone dystrophy, X-linked, with tapetal-like sheen phenio_relaxed_subqs.owl MONDO:0010581 biolink:NamedThing diabetes insipidus, nephrogenic, X-linked phenio_relaxed_subqs.owl MONDO:0010585 biolink:NamedThing X-linked hypohidrotic ectodermal dysplasia An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin. phenio_relaxed_subqs.owl MONDO:0010588 biolink:NamedThing exudative vitreoretinopathy 2, X-linked Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the NDP gene. phenio_relaxed_subqs.owl MONDO:0010589 biolink:NamedThing Aarskog-Scott syndrome, X-linked Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. phenio_relaxed_subqs.owl MONDO:0010646 biolink:NamedThing macular dystrophy, X-linked phenio_relaxed_subqs.owl MONDO:0010716 biolink:NamedThing X-linked lethal multiple pterygium syndrome X-linked form of lethal multiple pterygium syndrome. phenio_relaxed_subqs.owl MONDO:0010725 biolink:NamedThing X-linked retinoschisis A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration. phenio_relaxed_subqs.owl MONDO:0010737 biolink:NamedThing spondyloepiphyseal dysplasia tarda, X-linked X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern. phenio_relaxed_subqs.owl MONDO:0016612 biolink:NamedThing X-linked cerebellar ataxia X-linked form of cerebellar ataxia. phenio_relaxed_subqs.owl MONDO:0017269 biolink:NamedThing X-linked ichthyosis syndrome X-linked form of inherited ichthyosis syndromic form. phenio_relaxed_subqs.owl MONDO:0018451 biolink:NamedThing X-linked distal hereditary motor neuropathy X-linked form of distal hereditary motor neuropathy. phenio_relaxed_subqs.owl MONDO:0020720 biolink:NamedThing X-linked hypophosphatemic rickets phenio_relaxed_subqs.owl MONDO:0020768 biolink:NamedThing X-linked deafness phenio_relaxed_subqs.owl MONDO:0021155 biolink:NamedThing X-linked cone-rod dystrophy X-linked form of cone-rod dystrophy. phenio_relaxed_subqs.owl MONDO:0044749 biolink:NamedThing X-linked congenital stationary night blindness X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus,and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There aretwo major types of XLCSNB: the complete form and the incomplete form. Bothtypes have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause. phenio_relaxed_subqs.owl MONDO:0060455 biolink:NamedThing X-linked congenital hemolytic anemia phenio_relaxed_subqs.owl MONDO:0100148 biolink:NamedThing X-linked complex neurodevelopmental disorder A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy. phenio_relaxed_subqs.owl MONDO:0100284 biolink:NamedThing X-linked intellectual disability An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations. phenio_relaxed_subqs.owl MONDO:0700060 biolink:NamedThing leukemia, acute, X-linked X-linked form of acute leukemia phenio_relaxed_subqs.owl NCIT:C85865 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_128430005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1142166 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050451 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001030 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D053840 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011001 biolink:NamedThing Brugada syndrome 1 Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene. phenio_relaxed_subqs.owl MONDO:0012728 biolink:NamedThing Brugada syndrome 2 Any Brugada syndrome in which the cause of the disease is a mutation in the GPD1L gene. phenio_relaxed_subqs.owl MONDO:0012742 biolink:NamedThing Brugada syndrome 3 Any Brugada syndrome in which the cause of the disease is a mutation in the CACNA1C gene. phenio_relaxed_subqs.owl MONDO:0012743 biolink:NamedThing Brugada syndrome 4 Any Brugada syndrome in which the cause of the disease is a mutation in the CACNB2 gene. phenio_relaxed_subqs.owl MONDO:0013015 biolink:NamedThing Brugada syndrome 5 Any Brugada syndrome in which the cause of the disease is a mutation in the SCN1B gene. phenio_relaxed_subqs.owl MONDO:0013145 biolink:NamedThing Brugada syndrome 6 Any Brugada syndrome in which the cause of the disease is a mutation in the KCNE3 gene. phenio_relaxed_subqs.owl MONDO:0013146 biolink:NamedThing Brugada syndrome 7 Any Brugada syndrome in which the cause of the disease is a mutation in the SCN3B gene. phenio_relaxed_subqs.owl MONDO:0013148 biolink:NamedThing Brugada syndrome 8 Any Brugada syndrome in which the cause of the disease is a mutation in the HCN4 gene. phenio_relaxed_subqs.owl MONDO:0014621 biolink:NamedThing Brugada syndrome 9 Any Brugada syndrome in which the cause of the disease is a mutation in the KCND3 gene. phenio_relaxed_subqs.owl NCIT:C142891 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_601144 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_418818005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:130 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1168173 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020370 biolink:NamedThing Cogan-Reese syndrome Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease. phenio_relaxed_subqs.owl DOID:0060217 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006125 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84644 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_404633004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98980 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1168198 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000111 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535297 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128637 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_472827002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:60032 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1168225 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27339 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1175175 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005091 biolink:NamedThing severe acute respiratory syndrome A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death. phenio_relaxed_subqs.owl DOID:2945 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009237 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D045169 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85064 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_398447004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000694 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:140896 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1257763 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003916 biolink:NamedThing overnutrition An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity. phenio_relaxed_subqs.owl DOID:654 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D044343 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004937 biolink:NamedThing hypervitaminosis D phenio_relaxed_subqs.owl OBO:SCTID_302872003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1257809 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1701 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D043202 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018841 biolink:NamedThing congenital bile acid synthesis defect phenio_relaxed_subqs.owl EFO:0005590 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1257877 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000550 biolink:NamedThing extra-adrenal sympathetic paraganglioma A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas. phenio_relaxed_subqs.owl DOID:0050936 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C48576 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000489 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1257958 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4194 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D044882 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014221 biolink:NamedThing triosephosphate isomerase deficiency Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration. phenio_relaxed_subqs.owl MONDO:0023263 biolink:NamedThing glyceraldehyde-3-phosphate dehydrogenase deficiency phenio_relaxed_subqs.owl NCIT:C53655 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_126877002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1258034 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005660 biolink:NamedThing Avulavirus infectious disease Infections with viruses of the genus avulavirus, family paramyxoviridae. This includes newcastle disease and other infections of domestic fowl. phenio_relaxed_subqs.owl OBO:MESH_D045463 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007161 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1258090 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D045729 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1258222 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006925 biolink:NamedThing Fusobacteriaceae infectious disease Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum fusobacteria. phenio_relaxed_subqs.owl OBO:MESH_D045825 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001126 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1260386 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007080 biolink:NamedThing glucocorticoid-remediable aldosteronism Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol. phenio_relaxed_subqs.owl UMLS:C3838731 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14080 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002790 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E26.02 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563177 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:103900 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:403 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1260911 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009774 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_197718007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1260915 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128371 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_186903006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1260965 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012015 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D062689 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27483 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_400102008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:247762 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1261128 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008311 biolink:NamedThing progeria-short stature-pigmented nevi syndrome Progeria-short stature-pigmented nevi is a progeroid disorder characterised by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat. phenio_relaxed_subqs.owl OBO:GARD_0004494 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536422 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:176690 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_399947002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2959 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1261567 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018058 biolink:NamedThing tracheal agenesis Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking. phenio_relaxed_subqs.owl OBO:GARD_0005233 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536975 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35376 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_3987009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3346 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1262087 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009257 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D050798 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85174 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_725058003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:57145 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1263724 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_123809005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1263739 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060159 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009433 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019213 biolink:NamedThing cerebral organic aciduria A inherited organic acidemia that involves the brain. phenio_relaxed_subqs.owl MONDO:0019215 biolink:NamedThing classic organic aciduria phenio_relaxed_subqs.owl NCIT:C101334 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:289899 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1263858 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011925 biolink:NamedThing congenital merosin-deficient muscular dystrophy 1A Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting. phenio_relaxed_subqs.owl DOID:0110636 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003843 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C118783 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607855 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_111503008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009138 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:258 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1264039 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060573 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D056725 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131685 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:193400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_128106003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:166078 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1264040 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060574 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D056728 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015628 biolink:NamedThing von Willebrand disease type 2A Type 2A von Willebrand disease (type 2A VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers. phenio_relaxed_subqs.owl MONDO:0015629 biolink:NamedThing von Willebrand disease type 2B A subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma. phenio_relaxed_subqs.owl MONDO:0015630 biolink:NamedThing von Willebrand disease type 2M A subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers. phenio_relaxed_subqs.owl MONDO:0015631 biolink:NamedThing von Willebrand disease type 2N Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII). phenio_relaxed_subqs.owl OMIM:613554 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_128107007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:166081 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1264041 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111054 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D056729 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85213 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:277480 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_128108002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:166096 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1265996 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050872 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003047 biolink:NamedThing thymic large cell neuroendocrine carcinoma An aggressive, non-small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and, almost always, necrosis. phenio_relaxed_subqs.owl MONDO:0003049 biolink:NamedThing ovarian large-cell neuroendocrine carcinoma A carcinoma that arises from the ovary and is characterized by the presence of large malignant cells exhibiting neuroendocrine differentiation. The prognosis is poor. phenio_relaxed_subqs.owl MONDO:0003959 biolink:NamedThing breast large cell neuroendocrine carcinoma A poorly differentiated neuroendocrine carcinoma that arises from the breast. It is characterized by the presence of large neuroendocrine cells and high mitotic activity. phenio_relaxed_subqs.owl MONDO:0003960 biolink:NamedThing pulmonary large cell neuroendocrine carcinoma A large cell neuroendocrine carcinoma that involves the lung(s). phenio_relaxed_subqs.owl MONDO:0006138 biolink:NamedThing cervical large cell neuroendocrine carcinoma A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli. phenio_relaxed_subqs.owl MONDO:0006347 biolink:NamedThing pancreatic large cell neuroendocrine carcinoma An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells. phenio_relaxed_subqs.owl NCIT:C6875 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_LUNE biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000563 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1266046 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8292 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27729 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1266099 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050923 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C46105 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000593 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1266114 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8243 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6891 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1266127 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563181 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6494 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612160 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_AFH biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:569164 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1266131 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10208 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6503 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_404065000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1266159 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3593 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_ETT biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_609515005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:254698 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1266165 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006246 biolink:NamedThing high grade surface osteosarcoma A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. phenio_relaxed_subqs.owl NCIT:C53958 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_HGSOS biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000296 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1266166 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002631 biolink:NamedThing conventional osteosarcoma A high grade malignant bone-forming mesenchymal neoplasm producing osteoid. The tumor arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis. phenio_relaxed_subqs.owl DOID:3378 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7602 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004306 biolink:NamedThing childhood intracortical osteosarcoma A high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood. It arises from the medullary portion of the bone. It affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis. phenio_relaxed_subqs.owl MONDO:0020660 biolink:NamedThing osteoblastic osteosarcoma A conventional osteosarcoma characterized by the predominance of osteoid matrix. phenio_relaxed_subqs.owl NCIT:C35870 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1266167 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003684 biolink:NamedThing clear cell chondrosarcoma A rare, usually low grade chondrosarcoma characterized by the presence of tumor cells with clear cytoplasm. It usually arises in the epiphyseal ends of long bones. phenio_relaxed_subqs.owl DOID:5867 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6475 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1266173 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4152 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003850 biolink:NamedThing clivus chondroid chordoma A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, the presence of physaliphorous cells and cartilage. phenio_relaxed_subqs.owl NCIT:C6902 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000174 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1271398 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060680 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004356 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563184 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600510 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_392133001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:26823 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1273017 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6322 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C8461 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_281702006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000596 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1274008 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000304 biolink:NamedThing penicilliosis A disease caused by infection with Talaromyces marneffei. phenio_relaxed_subqs.owl DOID:0050288 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_372936000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_713315007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1274103 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009652 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537751 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C67235 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_392559009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:352540 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1274173 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015808 biolink:NamedThing folliculotropic mycosis fungoides Folliculotropic mycosis fungoides is a rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of folliculotropic infiltrates in patch-plaque lesions usually involving the head and neck area. phenio_relaxed_subqs.owl OBO:SCTID_402723003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1274281 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2066 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C8596 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_402841001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1274377 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009584 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536348 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_402965002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1274708 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0022113 biolink:NamedThing central centrifugal cicatricial alopecia phenio_relaxed_subqs.owl OBO:GARD_0010826 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:618352 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_109441000119102 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1274743 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563185 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:144110 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1275078 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN229565 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060234 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006003 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008710 biolink:NamedThing RAB23-related Carpenter syndrome Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene. phenio_relaxed_subqs.owl MONDO:0013998 biolink:NamedThing MEGF8-related Carpenter syndrome Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene. phenio_relaxed_subqs.owl NCIT:C98873 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_201000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_403767009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:65759 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1275079 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060359 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000115 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537227 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:101120 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_403768004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3128 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1275081 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060233 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009146 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535579 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007265 biolink:NamedThing cardiofaciocutaneous syndrome 1 Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene. phenio_relaxed_subqs.owl MONDO:0014112 biolink:NamedThing cardiofaciocutaneous syndrome 2 Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the KRAS gene. phenio_relaxed_subqs.owl MONDO:0014113 biolink:NamedThing cardiofaciocutaneous syndrome 3 Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K1 gene. phenio_relaxed_subqs.owl MONDO:0014114 biolink:NamedThing cardiofaciocutaneous syndrome 4 Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K2 gene. phenio_relaxed_subqs.owl NCIT:C84617 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_115150 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_403770008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1340 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1275088 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009445 biolink:NamedThing ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked. phenio_relaxed_subqs.owl OBO:GARD_0001993 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535727 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:242520 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_403779009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2274 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1275089 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002946 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537363 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:242150 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_403780007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1275114 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011398 biolink:NamedThing dystrophic epidermolysis bullosa pruriginosa Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus. phenio_relaxed_subqs.owl OBO:MESH_C563192 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604129 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_403810008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:89843 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1275122 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011114 biolink:NamedThing familial multiple trichoepithelioma phenio_relaxed_subqs.owl OBO:GARD_0010867 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012800 biolink:NamedThing trichoepithelioma, multiple familial, 2 phenio_relaxed_subqs.owl MONDO:0042977 biolink:NamedThing trichoepithelioma, multiple familial, 1 phenio_relaxed_subqs.owl OBO:SCTID_403825008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:867 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1275125 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013536 biolink:NamedThing heme oxygenase 1 deficiency phenio_relaxed_subqs.owl MONDO:0017755 biolink:NamedThing inborn disorder of bilirubin metabolism An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl OBO:SCTID_403832004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309813 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1275254 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002141 biolink:NamedThing cutaneous undifferentiated pleomorphic sarcoma An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm. phenio_relaxed_subqs.owl DOID:1906 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5576 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_404014008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000212 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1275277 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3814 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002779 biolink:NamedThing central nervous system chondroma An extraskeletal chondroma usually arising from the dura. phenio_relaxed_subqs.owl NCIT:C9482 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_404078000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000540 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1275417 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010890 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_703295003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:141179 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1275421 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_703294004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:141184 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1275592 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000410 biolink:NamedThing funisitis An acute inflammation of the umbilical cord. It is characterized by the presence of polymorphonuclear cells migrating from the fetal umbilical cord vessels through the umbilical cord towards the bacteria containing amniotic fluid. phenio_relaxed_subqs.owl DOID:0050698 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C97077 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_396343006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1275808 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060731 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008535 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C98889 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:209880 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_230499002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:661 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1276127 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1867968 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566768 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:176090 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_402479002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:443057 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1276801 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000237 biolink:NamedThing erysipeloid An infection caused by Erysipelothrix rhusiopathiae that is almost wholly restricted to persons who in their occupation handle infected fish, shellfish, poultry, or meat. Three forms of this condition exist: a mild localized form manifested by local swelling and redness of the skin; a diffuse form that might present with fever; and a rare systemic form associated with endocarditis. phenio_relaxed_subqs.owl DOID:0050061 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A26 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D004887 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_400105005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1279186 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0042980 biolink:NamedThing Westphal disease phenio_relaxed_subqs.owl OBO:GARD_0005557 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536694 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_182747006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1279621 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13368 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_214600002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1279945 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019203 biolink:NamedThing acute interstitial pneumonia Acute interstitial pneumonia (AIP), also referred to as Hamman-Rich syndrome, is a rapidly progressive and histologically distinct form of idiopathic interstitial pneumonia. phenio_relaxed_subqs.owl DOID:2800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012835 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35806 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_236302005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79126 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1282952 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C114470 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_359643005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1282968 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131686 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_359714009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:166084 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1282971 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131687 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_359717002 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_359721009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:166087 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1282974 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131688 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_359725000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_359729006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:166090 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1282975 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131689 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_359732009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:166093 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1282983 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050026 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000072 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_082.41 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_359747000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1283400 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015270 biolink:NamedThing butyrylcholinesterase deficiency Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency. phenio_relaxed_subqs.owl OBO:GARD_0007482 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537417 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617936 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_191397007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:132 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1283620 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009114 biolink:NamedThing congenital sucrase-isomaltase deficiency A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterised by malabsorption of sucrose and maltose. phenio_relaxed_subqs.owl DOID:0111633 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006183 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007710 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538139 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017618 biolink:NamedThing congenital sucrase-isomaltase deficiency with starch intolerance phenio_relaxed_subqs.owl MONDO:0017619 biolink:NamedThing congenital sucrase-isomaltase deficiency with minimal starch tolerance phenio_relaxed_subqs.owl MONDO:0017620 biolink:NamedThing congenital sucrase-isomaltase deficiency without starch intolerance phenio_relaxed_subqs.owl MONDO:0017621 biolink:NamedThing congenital sucrase-isomaltase deficiency with starch and lactose intolerance phenio_relaxed_subqs.owl MONDO:0017622 biolink:NamedThing congenital sucrase-isomaltase deficiency without sucrose intolerance phenio_relaxed_subqs.owl MONDO:0023250 biolink:NamedThing global disaccharide intolerance phenio_relaxed_subqs.owl NCIT:C128190 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:222900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_78373000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:35122 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1285186 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009526 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007361 biolink:NamedThing C1 inhibitor deficiency phenio_relaxed_subqs.owl MONDO:0009005 biolink:NamedThing complement component C1r/C1s deficiency Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae. phenio_relaxed_subqs.owl MONDO:0012412 biolink:NamedThing complement component 7 deficiency Any classic complement early component deficiency in which the cause of the disease is a mutation in the C7 gene. phenio_relaxed_subqs.owl MONDO:0012908 biolink:NamedThing complement component 6 deficiency Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene. phenio_relaxed_subqs.owl MONDO:0013417 biolink:NamedThing complement component 3 deficiency A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease. phenio_relaxed_subqs.owl MONDO:0013419 biolink:NamedThing complement component C1s deficiency A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis. phenio_relaxed_subqs.owl MONDO:0013421 biolink:NamedThing type II complement component 8 deficiency Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene. phenio_relaxed_subqs.owl MONDO:0013422 biolink:NamedThing type I complement component 8 deficiency Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene. phenio_relaxed_subqs.owl MONDO:0013445 biolink:NamedThing complement component 9 deficiency Any classic complement early component deficiency in which the cause of the disease is a mutation in the C9 gene. phenio_relaxed_subqs.owl MONDO:0013720 biolink:NamedThing complement component 4b deficiency Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4B gene. phenio_relaxed_subqs.owl MONDO:0013721 biolink:NamedThing complement component 4a deficiency Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene. phenio_relaxed_subqs.owl OBO:SCTID_363009005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1290138 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016359 biolink:NamedThing limited systemic sclerosis Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin. phenio_relaxed_subqs.owl OBO:GARD_0009749 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C116789 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_128461001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:220407 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1290344 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019622 biolink:NamedThing non-specific interstitial pneumonia Idiopathic interstitial pneumonia characterized by chronic inflammation and fibrosis in the interstitial lung tissue. It includes cases that cannot be classified into one of the other types of idiopathic interstitial pneumonia. phenio_relaxed_subqs.owl DOID:2801 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35717 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_129452008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:91364 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1291264 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002510 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536837 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1291299 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563206 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C121750 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:274500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_124204003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1291329 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011624 biolink:NamedThing transaldolase deficiency Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities. phenio_relaxed_subqs.owl OBO:GARD_0010445 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563207 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606003 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_124252008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101028 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1291373 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014969 biolink:NamedThing isolated sedoheptulokinase deficiency phenio_relaxed_subqs.owl OMIM:617213 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_124309005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:440713 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1291401 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931079 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001690 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004337 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535995 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537897 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_124343001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1291463 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013531 biolink:NamedThing PSPH deficiency 3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome. phenio_relaxed_subqs.owl DOID:0050724 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614023 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_124432005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79350 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1291490 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050809 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563209 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129073 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601492 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_124473006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:67041 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1291512 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013164 biolink:NamedThing beta-ureidopropionase deficiency Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal). phenio_relaxed_subqs.owl OBO:MESH_C563210 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613161 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_124511000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:65287 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1291560 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002505 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_124596009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1291607 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617596 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1291609 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563212 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608611 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_124667004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:440706 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1291620 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111630 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001874 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131638 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:222800 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:714 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1300229 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010621 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563215 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019411 biolink:NamedThing genochondromatosis type 1 Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course. phenio_relaxed_subqs.owl MONDO:0019680 biolink:NamedThing genochondromatosis type 2 Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign. phenio_relaxed_subqs.owl OMIM:137360 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_389264005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1300585 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7141 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6766 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_PRSCC biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_396198006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000499 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1302569 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5207 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7286 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1302753 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_399964004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:477650 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1302839 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017677 biolink:NamedThing focal acral hyperkeratosis phenio_relaxed_subqs.owl OBO:SCTID_400115004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:308013 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1302848 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0044656 biolink:NamedThing epidermolytic nevus phenio_relaxed_subqs.owl OBO:SCTID_400142003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:497737 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1302999 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007123 biolink:NamedThing ankyloblepharon filiforme adnatum-cleft palate syndrome phenio_relaxed_subqs.owl OBO:GARD_0000696 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536373 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:106250 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_400952003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1072 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1303073 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011053 biolink:NamedThing intellectual disability-sparse hair-brachydactyly syndrome Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now. phenio_relaxed_subqs.owl OBO:GARD_0000270 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536116 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601358 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_401046009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3051 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1304226 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010454 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0008611 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1304297 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011465 biolink:NamedThing infundibulocystic basal cell carcinoma phenio_relaxed_subqs.owl DOID:4279 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009788 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537655 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27540 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604451 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1304508 biolink:NamedThing phenio_relaxed_subqs.owl DOID:496 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4754 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_403967000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0002856 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:210584 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1304511 biolink:NamedThing phenio_relaxed_subqs.owl DOID:486 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27505 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_403976007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1304514 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9601 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6483 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_403990005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1305256 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3615 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7449 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1306794 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015803 biolink:NamedThing wound botulism Botulism that is caused by toxin that is produced in a wound contaminated with Clostridium botulinum. phenio_relaxed_subqs.owl DOID:0050353 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_A48.52 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_040.42 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128342 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_398530003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:178475 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1314968 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8503 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_694.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_65539006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000715 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1318550 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7167 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100019 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1318551 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7168 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100020 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1319466 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060549 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000819 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537908 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:209885 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_408537003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1231 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1320317 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050035 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_415561000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1321489 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050465 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006821 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D055653 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84905 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:158320 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_403824007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:587 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1321551 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008426 biolink:NamedThing Shprintzen-Goldberg syndrome Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. phenio_relaxed_subqs.owl OBO:GARD_0004861 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C124840 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:182212 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719069008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2462 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1321683 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11684 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27548 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_394727000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000733 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1327915 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090118 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000640 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535982 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C115207 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604498 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716336002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3319 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1327916 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070026 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004695 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538371 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C152064 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:268130 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723512008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3088 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1327917 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000039 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536751 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:194350 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719019000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3466 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1327919 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008038 biolink:NamedThing ataxia-pancytopenia syndrome Ataxia-pancytopenia syndrome is a rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia. phenio_relaxed_subqs.owl OBO:GARD_0003865 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563233 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:159550 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_768556005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2585 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1328252 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3495436 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9155 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B55.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007897 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34769 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007379 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1328349 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010794 biolink:NamedThing NARP syndrome Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy. phenio_relaxed_subqs.owl DOID:0111273 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000262 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537396 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:551500 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:644 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1328355 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000368 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537032 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:245660 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722675000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2407 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1328479 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1798 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_C25.4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018273 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3770 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254612002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007416 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:506098 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1328840 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017979 biolink:NamedThing autoimmune lymphoproliferative syndrome Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma. phenio_relaxed_subqs.owl DOID:6688 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008686 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D056735 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011158 biolink:NamedThing autoimmune lymphoproliferative syndrome type 1 phenio_relaxed_subqs.owl MONDO:0011383 biolink:NamedThing autoimmune lymphoproliferative syndrome type 2A A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma. phenio_relaxed_subqs.owl MONDO:0011804 biolink:NamedThing autoimmune lymphoproliferative syndrome type 2B Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses. phenio_relaxed_subqs.owl MONDO:0013767 biolink:NamedThing autoimmune lymphoproliferative syndrome type 4 RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia. phenio_relaxed_subqs.owl MONDO:0014414 biolink:NamedThing STAT3-related early-onset multisystem autoimmune disease phenio_relaxed_subqs.owl MONDO:0014493 biolink:NamedThing autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V. phenio_relaxed_subqs.owl MONDO:8000023 biolink:NamedThing type 3 autoimmune lymphoproliferative syndrome A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma. phenio_relaxed_subqs.owl MONDO:8000024 biolink:NamedThing autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD Any autoimmune lymphoproliferative syndrome in which the cause of the disease is a mutation in the PRKCD gene. phenio_relaxed_subqs.owl NCIT:C37864 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3261 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1331544 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13160 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7361 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332135 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6686 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008176 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536012 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35809 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:100700 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332149 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5224 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35796 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332176 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8140 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7646 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332204 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003765 biolink:NamedThing adult leptomeningeal melanoma A melanoma that arises from leptomeningeal melanocytes and occurs in adulthood. phenio_relaxed_subqs.owl DOID:6090 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5319 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332207 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4547 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27375 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332209 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6495 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27378 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332250 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7136 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6655 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332278 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7175 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7470 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332314 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003726 biolink:NamedThing apocrine adenosis of breast Breast adenosis characterized by the presence of extensive apocrine metaplasia. phenio_relaxed_subqs.owl DOID:5999 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5198 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332340 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6427 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000094 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332528 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080370 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006339 biolink:NamedThing ovarian microcystic stromal tumor A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma. phenio_relaxed_subqs.owl MONDO:0017802 biolink:NamedThing ovarian fibrothecoma A rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad). phenio_relaxed_subqs.owl NCIT:C6803 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332564 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202866 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7132 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0011923 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C9461 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_SCBC biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000129 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:284400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332573 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003723 biolink:NamedThing blunt duct adenosis of breast Breast adenosis characterized by the presence of ducts with distended lumen and columnar cell metaplasia. phenio_relaxed_subqs.owl DOID:5996 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6941 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332574 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002617 biolink:NamedThing bone angiosarcoma A high-grade malignant vascular neoplasm that arises from the bone. It is characterized by the presence of neoplastic cells with endothelial differentiation. phenio_relaxed_subqs.owl DOID:3351 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6479 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332575 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332578 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6610 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5396 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000132 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332579 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002624 biolink:NamedThing bone leiomyosarcoma A rare aggressive malignant smooth muscle neoplasm, arising from the bone. It is characterized by a proliferation of neoplastic spindle cells. phenio_relaxed_subqs.owl DOID:3367 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7154 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332581 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002634 biolink:NamedThing liposarcoma of bone A very rare malignant adipose tissue neoplasm that arises from the bone. phenio_relaxed_subqs.owl DOID:3381 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7598 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332582 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017814 biolink:NamedThing primary bone lymphoma A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most commonly affected sites. The majority of patients present with bone pain in the affected area. A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease. phenio_relaxed_subqs.owl DOID:6759 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000870 biolink:NamedThing childhood acute lymphoblastic leukemia An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias. phenio_relaxed_subqs.owl MONDO:0001607 biolink:NamedThing intrapelvic lymph node leukemic reticuloendotheliosis phenio_relaxed_subqs.owl MONDO:0001743 biolink:NamedThing paranasal sinus lymphoma A lymphoma that arises from the paranasal sinus. Representative examples include diffuse large B-cell lymphoma and extranodal NK/T-cell lymphoma, nasal type. phenio_relaxed_subqs.owl MONDO:0002966 biolink:NamedThing splenic manifestation of prolymphocytic leukemia A prolymphocytic leukemia that involves the spleen. phenio_relaxed_subqs.owl MONDO:0003988 biolink:NamedThing sternum lymphoma A rare lymphoma that arises from the bone or soft tissue of the sternum. phenio_relaxed_subqs.owl MONDO:0004104 biolink:NamedThing splenic manifestation of hairy cell leukemia A hairy cell leukemia that involves the spleen. phenio_relaxed_subqs.owl NCIT:C6620 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_766935007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314684 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332591 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002628 biolink:NamedThing peripheral osteosarcoma A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. phenio_relaxed_subqs.owl DOID:3374 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003895 biolink:NamedThing periosteal osteogenic sarcoma An intermediate grade malignant bone-forming mesenchymal neoplasm with chondroblastic differentiation. It arises from the surface of the bone and affects the diaphysis or diaphyseal- metaphyseal portion of the long bones. A painless mass or swelling is the most common clinical sign. It is associated with a better prognosis than conventional osteosarcoma. phenio_relaxed_subqs.owl NCIT:C7134 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332611 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6501 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5147 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332619 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6491 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5210 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332627 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6492 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5211 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332628 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5997 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6943 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332635 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3009 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5169 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332655 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151071 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8354 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565169 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C9468 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613779 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:280133 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332840 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004556 biolink:NamedThing carcinoma arising in nasal papillomatosis A rare squamous cell carcinoma that either arises from or is associated with the presence of inverted papilloma in the nose. phenio_relaxed_subqs.owl DOID:8415 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27389 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332849 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6285 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6741 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332863 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5776 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7053 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000152 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332885 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6293 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5451 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332900 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6500 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5146 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332907 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6291 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6220 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332932 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10200 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6719 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_448270009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332974 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7612 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6590 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332976 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003764 biolink:NamedThing pediatric leptomeningeal melanoma A melanoma that arises from leptomeningeal melanocytes and occurs in childhood. phenio_relaxed_subqs.owl DOID:6089 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5318 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332982 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4546 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27374 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332984 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6494 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27377 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332987 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8336 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6549 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332988 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7340 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6550 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332989 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8036 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6546 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332990 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7037 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6547 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332991 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003818 biolink:NamedThing childhood mature teratoma of the ovary A mature teratoma that arises from the ovary and occurs in children. phenio_relaxed_subqs.owl DOID:6229 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6548 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332992 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6230 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6554 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332993 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6083 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6551 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1332994 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5809 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6589 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333006 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6160 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6544 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333007 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6162 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6545 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333008 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003888 biolink:NamedThing childhood testicular mixed embryonal carcinoma and teratoma A malignant testicular mixed germ cell neoplasm that occurs during childhood. It is characterized by the presence of embryonal carcinoma and teratoma components. phenio_relaxed_subqs.owl DOID:6474 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6539 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333009 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6161 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6542 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333019 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3813 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333024 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7041 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6102 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333025 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6525 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35782 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333026 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7807 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6865 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333027 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6041 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6099 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333050 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7042 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6119 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333051 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6523 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35783 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333052 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6043 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6117 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333059 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10193 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27530 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333071 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6312 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5412 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_446939001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333072 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6313 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5426 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333086 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5775 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5395 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333094 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001093 biolink:NamedThing colonic lymphangioma A lymphangioma arising from the colon. phenio_relaxed_subqs.owl DOID:10657 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333097 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4118 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5697 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100080 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333099 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6727 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6761 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333114 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6460 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5678 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333120 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7088 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35830 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333122 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004142 biolink:NamedThing lung combined large cell neuroendocrine carcinoma A subtype of large cell neuroendocrine lung carcinoma characterized by the presence of large neuroendocrine cells in combination with adenocarcinoma, squamous cell carcinoma, giant cell carcinoma and/ or spindle cell carcinoma. phenio_relaxed_subqs.owl DOID:7207 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7267 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333123 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7591 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000200 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333125 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5421 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000532 biolink:NamedThing lung combined type small cell adenocarcinoma A lung combined type small cell carcinoma that has material basis in epithelial tissue of glandular origin. phenio_relaxed_subqs.owl NCIT:C9137 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_CSCLC biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333147 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001222 biolink:NamedThing congenital T-cell immunodeficiency A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective. phenio_relaxed_subqs.owl DOID:11200 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008564 biolink:NamedThing DiGeorge syndrome A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly. phenio_relaxed_subqs.owl MONDO:0009451 biolink:NamedThing Nezelof syndrome phenio_relaxed_subqs.owl NCIT:C27872 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333160 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6294 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5438 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333162 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7326 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27248 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333176 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024673 biolink:NamedThing skin lymphangioma A lymphangioma arising from the skin. phenio_relaxed_subqs.owl NCIT:C27509 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333265 biolink:NamedThing phenio_relaxed_subqs.owl DOID:469 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004533 biolink:NamedThing perineural angioma A hemangioma arising from perineural tissues. phenio_relaxed_subqs.owl NCIT:C6555 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333292 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6677 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35699 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_449784008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333298 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3923 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6504 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000687 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333320 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004236 biolink:NamedThing duodenal somatostatinoma A somatostatin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of tubulo-glandular structures. phenio_relaxed_subqs.owl DOID:7479 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27407 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333321 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004411 biolink:NamedThing duodenal gastrin-producing neuroendocrine tumor A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm. phenio_relaxed_subqs.owl DOID:7959 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5731 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000224 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333411 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6284 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6742 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333416 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3617 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5424 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333422 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7040 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35780 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000244 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333455 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10187 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5701 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333460 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1108 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5707 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_ESMM biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333462 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2987260 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5784 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C95616 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:506136 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333472 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2766 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6237 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333473 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2764 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6238 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000246 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333474 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003925 biolink:NamedThing ethmoid sinus inverted papilloma A benign neoplasm that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma. phenio_relaxed_subqs.owl DOID:6562 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6843 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333475 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6854 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5309 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333476 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6559 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6836 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333477 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2763 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6065 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_707359008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333491 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002943 biolink:NamedThing external ear basal cell carcinoma A basal cell carcinoma that arises from the skin of the external ear. phenio_relaxed_subqs.owl DOID:4287 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6082 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333492 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4288 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003501 biolink:NamedThing external ear squamous cell carcinoma A squamous cell carcinoma that arises from the skin of the external ear. phenio_relaxed_subqs.owl NCIT:C6081 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333494 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5538 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6083 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333509 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10209 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5854 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333593 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8186 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6278 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333612 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8153 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6573 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_403991009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333644 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004448 biolink:NamedThing frontal sinus inverted papilloma A benign neoplasm that arises from the ciliated respiratory mucosa that lines the frontal sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma. phenio_relaxed_subqs.owl DOID:8060 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6842 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333645 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6054 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6837 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333646 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2441 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6067 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_707356001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333741 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5627 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7356 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_GBASC biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000264 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333742 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003026 biolink:NamedThing gallbladder angiosarcoma An angiosarcoma that is located in the gallbladder. phenio_relaxed_subqs.owl DOID:4513 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5840 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333745 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5140 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5747 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333746 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003364 biolink:NamedThing gallbladder leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the gallbladder. It is characterized by a proliferation of neoplastic spindle cells. phenio_relaxed_subqs.owl DOID:5275 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5841 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333747 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10201 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5835 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333748 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8135 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5734 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333749 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8167 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5735 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333750 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6998 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5744 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333751 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5150 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5746 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333753 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7221 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5743 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333754 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3120 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7130 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333756 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002856 biolink:NamedThing gallbladder rhabdomyosarcoma A rhabdomyosarcoma that is located in the gallbladder. phenio_relaxed_subqs.owl DOID:4057 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5839 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333757 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4058 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5736 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333758 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3499 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5745 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333759 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7133 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6763 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000266 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333767 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003524 biolink:NamedThing gastric gastrin-producing neuroendocrine tumor A well differentiated neuroendocrine tumor that arises from the stomach. It produces gastrin and it may be associated with Zollinger-Ellison syndrome. phenio_relaxed_subqs.owl DOID:5579 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27444 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333770 biolink:NamedThing phenio_relaxed_subqs.owl DOID:275 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5481 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333777 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5258 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_695751021000132104 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333788 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6552 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6764 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_STSC biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000277 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333798 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010409 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7091 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333817 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5774 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27777 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333873 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003256 biolink:NamedThing neurohypophysis granular cell tumor A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO) phenio_relaxed_subqs.owl DOID:5047 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7017 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_699331002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000285 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333944 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5327 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000288 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333956 biolink:NamedThing phenio_relaxed_subqs.owl DOID:482 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27507 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333957 biolink:NamedThing phenio_relaxed_subqs.owl DOID:501 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333970 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10190 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5750 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333987 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007672 biolink:NamedThing glomuvenous malformation Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin. phenio_relaxed_subqs.owl UMLS:C1841984 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7996 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536827 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5350 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:138000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715644000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:83454 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1333992 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004033 biolink:NamedThing familial ovarian carcinoma Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma. phenio_relaxed_subqs.owl DOID:6901 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C36102 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334067 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13407 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35807 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334069 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2959 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018037 biolink:NamedThing hyper-IgE syndrome A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections. phenio_relaxed_subqs.owl NCIT:C27579 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334154 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6353 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_416769008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334180 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006480 biolink:NamedThing undifferentiated pleomorphic sarcoma, inflammatory variant An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells. phenio_relaxed_subqs.owl DOID:6192 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6497 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000608 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334208 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6996 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6100 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334209 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6997 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6118 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334210 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6993 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6101 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334226 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6752 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5452 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334237 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2516 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5432 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_445513004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334287 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7328 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6098 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334296 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6429 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000308 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334297 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002563 biolink:NamedThing jejunal somatostatinoma A somatostatin-producing neuroendocrine tumor that arises from the jejunum. It is characterized by the presence of tubulo-glandular structures. phenio_relaxed_subqs.owl DOID:3216 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5787 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334363 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6658 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5672 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334364 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4553 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6461 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334374 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5457 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6023 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_707625001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100083 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334378 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7144 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6025 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000320 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334386 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6085 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5317 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_277530005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334438 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7017 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334452 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5410 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004100 biolink:NamedThing lung mixed small cell and squamous cell carcinoma A lung carcinoma characterized by a combination of small cell carcinoma and squamous cell carcinoma. phenio_relaxed_subqs.owl NCIT:C5670 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_LNET biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_707594002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005220 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334572 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003933 biolink:NamedThing chest wall bone cancer An uncommon malignant neoplasm that arises from the chest wall bones. Representative examples include chondrosarcoma, osteosarcoma, and Ewing sarcoma/peripheral primitive neuroectodermal tumor. phenio_relaxed_subqs.owl DOID:6579 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6724 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334587 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6256 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5963 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334609 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204631 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020543 biolink:NamedThing theca steroid-producing cell malignant tumor of ovary, not further specified Malignant steroid cell tumor of the ovary, not otherwise specified is a rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome. phenio_relaxed_subqs.owl NCIT:C8053 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:35808 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334614 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5962 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000497 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334625 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5345 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5027 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334627 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003836 biolink:NamedThing malignant thyroid stimulating hormone producing neoplasm of pituitary gland A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces thyrotropin. phenio_relaxed_subqs.owl DOID:6274 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5965 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334637 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003820 biolink:NamedThing mature ovarian teratoma An ovarian teratoma which may be cystic, composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues. phenio_relaxed_subqs.owl DOID:6231 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003851 biolink:NamedThing ovarian fetiform teratoma A rare type of teratoma that arises from the ovary and resembles a malformed fetus. phenio_relaxed_subqs.owl MONDO:0003852 biolink:NamedThing ovarian solid teratoma A mature teratoma that arises from the ovary and presents as a large solid mass. It contains multiple cysts that vary in size. Small foci of hemorrhage are also present. phenio_relaxed_subqs.owl NCIT:C8112 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_OMT biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334642 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004328 biolink:NamedThing maxillary sinus adenocarcinoma An adenocarcinoma that arises from the maxillary sinus. It is classified as intestinal-type or non-intestinal-type adenocarcinoma. Nasal obstruction and epistaxis are the presenting signs. phenio_relaxed_subqs.owl DOID:7684 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6240 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_707339009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334643 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006297 biolink:NamedThing maxillary sinus adenoid cystic carcinoma An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course. phenio_relaxed_subqs.owl DOID:7198 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6239 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000365 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334644 biolink:NamedThing phenio_relaxed_subqs.owl DOID:867 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35868 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000731 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334645 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004384 biolink:NamedThing maxillary sinus inverted papilloma A benign neoplasm that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma. phenio_relaxed_subqs.owl DOID:7868 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6840 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334646 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8093 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6839 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334647 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7910 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6064 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_707354003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334662 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3926 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27488 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000732 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334691 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7206 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C9499 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334704 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002632 biolink:NamedThing metachronous osteosarcoma of the bone A bone osteosarcoma that has metastasized to skeletal or extraskeletal sites. phenio_relaxed_subqs.owl DOID:3379 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C38157 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334717 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024868 biolink:NamedThing metastatic carcinoma in the adrenal medulla A carcinoma that has spread to the adrenal medulla from an adjacent or distant anatomic site. phenio_relaxed_subqs.owl NCIT:C9276 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334758 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003189 biolink:NamedThing middle ear adenocarcinoma A carcinoma that arises from glandular epithelial cells of the middle ear phenio_relaxed_subqs.owl DOID:4892 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6848 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334759 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5387 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6834 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_734078009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334760 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003190 biolink:NamedThing middle ear carcinoma A carcinoma that arises from epithelial cells of the middle ear phenio_relaxed_subqs.owl DOID:4893 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006303 biolink:NamedThing middle ear squamous cell carcinoma A rare squamous cell carcinoma that arises from the middle ear. phenio_relaxed_subqs.owl NCIT:C6089 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334762 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5526 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6086 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000378 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334782 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6522 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35781 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000380 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334788 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7081 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C9423 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334815 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111152 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009644 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27855 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93686 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334817 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7086 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C37304 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334828 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5155 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6559 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334920 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003211 biolink:NamedThing nasal cavity adenocarcinoma A carcinoma that arises from glandular epithelial cells of the nasal cavity phenio_relaxed_subqs.owl DOID:4930 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6015 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334921 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10813 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6074 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334923 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10812 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7604 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334931 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7808 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7990 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334957 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5048 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004447 biolink:NamedThing pituitary stalk meningioma A meningioma that affects the pituitary stalk. phenio_relaxed_subqs.owl NCIT:C7157 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334974 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C8711 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000397 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1334977 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004334 biolink:NamedThing non-functional pancreatic neuroendocrine tumor A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome. phenio_relaxed_subqs.owl DOID:7698 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004002 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536126 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004377 biolink:NamedThing pancreatic non-functioning delta cell tumor A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It is not associated with a hormonal syndrome. phenio_relaxed_subqs.owl NCIT:C45837 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000398 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:506075 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335069 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002597 biolink:NamedThing notochordal tumor A bone tumor arising from the remnants of the fetal notochord. This category includes the chordoma and benign notochordal cell tumor. phenio_relaxed_subqs.owl DOID:3303 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7063 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335099 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5414 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6683 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335114 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4991 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6769 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335128 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14459 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6245 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_121951000119101 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335148 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004275 biolink:NamedThing osteosarcoma arising in bone Paget disease A sarcomatous transformation of pre-existing Paget disease of the bone. Osteosarcomas arising from Paget disease of the bone are high grade lesions and usually have a poor prognosis. phenio_relaxed_subqs.owl DOID:7542 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6469 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335152 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4527 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5232 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335158 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004214 biolink:NamedThing ovarian endometrioid cystadenofibroma A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells in a fibrotic stroma. phenio_relaxed_subqs.owl DOID:7411 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27288 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335163 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5263 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5234 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0006718 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335165 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5697 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004436 biolink:NamedThing ovarian myxoid liposarcoma A liposarcoma that arises from the ovary and is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma. phenio_relaxed_subqs.owl NCIT:C6419 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335167 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005601 biolink:NamedThing ovarian mucinous adenocarcinoma An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations. phenio_relaxed_subqs.owl UMLS:CN205033 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3606 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5243 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0006462 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:398961 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335168 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6067 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024282 biolink:NamedThing mucinous ovarian cancer An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. It includes mucinous adenocarcinoma and mucinous adenocarcinofibroma. phenio_relaxed_subqs.owl MONDO:0036915 biolink:NamedThing benign ovarian mucinous tumor A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma. phenio_relaxed_subqs.owl NCIT:C5242 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335169 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002880 biolink:NamedThing ovarian adenosarcoma A biphasic neoplasm that arises from the ovary and is characterized by the presence of mullerian-type epithelial tissue in a mesenchymal sarcomatous stroma. The presence of a high grade sarcomatous component is associated with recurrences and metastases. phenio_relaxed_subqs.owl DOID:4115 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7317 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335170 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8023 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5235 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335172 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3002 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5237 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335174 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4555 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5238 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335175 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6405 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7278 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335176 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4059 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5236 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335178 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6408 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6256 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335181 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6315 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7285 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335183 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6407 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7279 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335184 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006343 biolink:NamedThing ovarian transitional cell carcinoma A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present. phenio_relaxed_subqs.owl DOID:4000 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5240 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000435 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335300 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004333 biolink:NamedThing pancreatic ACTH-producing neuroendocrine tumor A malignant, ectopic ACTH secreting pancreatic neuroendocrine tumor, associated with Cushing's syndrome. The prognosis is usually poor. phenio_relaxed_subqs.owl DOID:7697 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27466 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335301 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002994 biolink:NamedThing pancreatic delta cell neuroendocrine tumor A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It may be associated with inappropriate secretion of somatostatin and an associated clinical syndrome, or it may be hormonally inactive (non-functioning). phenio_relaxed_subqs.owl DOID:4433 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002993 biolink:NamedThing pancreatic somatostatinoma A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss. phenio_relaxed_subqs.owl NCIT:C28396 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335310 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001683 biolink:NamedThing pancreatic mucinous ductal ectasia phenio_relaxed_subqs.owl DOID:13313 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5717 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335311 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7840 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C28333 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335337 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6019 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000454 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335342 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1362 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6849 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335343 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6835 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000455 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335348 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10207 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6384 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335351 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7611 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27393 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335382 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8331 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6526 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335434 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10195 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6644 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_2460001000004103 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335515 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2992 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5545 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_PRNE biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335678 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5547 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_713306000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335684 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6459 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5551 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335686 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5777 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5698 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100081 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335744 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10194 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5101 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335787 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018992 biolink:NamedThing IgG4-related thyroid disease Riedel thyroiditis is a fibroinflammatory disorder of the thyroid gland, occuring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficulB,ties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease. phenio_relaxed_subqs.owl DOID:14351 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35827 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_89024000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:64744 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335929 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3204 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004768 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008080 biolink:NamedThing neurofibromatosis, type III, mixed central and peripheral phenio_relaxed_subqs.owl MONDO:0014299 biolink:NamedThing schwannomatosis 2 phenio_relaxed_subqs.owl MONDO:0024517 biolink:NamedThing schwannomatosis 1 phenio_relaxed_subqs.owl NCIT:C6557 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_162091 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93921 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335931 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8310 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5205 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_105261000119101 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335936 biolink:NamedThing phenio_relaxed_subqs.owl DOID:663 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6387 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335942 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003739 biolink:NamedThing selective immunoglobulin deficiency disease A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity. phenio_relaxed_subqs.owl DOID:6025 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27870 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335975 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4151 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5453 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335979 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5926 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5845 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335980 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7142 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6460 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000578 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1335982 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35703 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000519 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1336009 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5740 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27455 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1336037 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004326 biolink:NamedThing sphenoid sinus inverted papilloma A benign neoplasm that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma. phenio_relaxed_subqs.owl DOID:7678 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6841 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1336038 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7679 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6838 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1336039 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14547 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6066 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_707355002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1336045 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14151 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5158 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1336096 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8275 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7325 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1336504 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6762 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6716 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1336506 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3925 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27487 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000769 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1336518 biolink:NamedThing phenio_relaxed_subqs.owl DOID:472 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6026 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1336546 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8274 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6525 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1336695 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7089 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35558 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1336703 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7016 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6499 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1336708 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010108 biolink:NamedThing testicular germ cell tumor A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor. phenio_relaxed_subqs.owl DOID:5557 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013047 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563236 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002874 biolink:NamedThing testicular pure germ cell tumor A germ cell tumor that arises from the testis and is characterized by the presence of one histologic component. This category includes seminoma, teratoma, embryonal carcinoma, yolk sac tumor, and trophoblastic tumor. phenio_relaxed_subqs.owl MONDO:0006447 biolink:NamedThing testicular non-seminomatous germ cell tumor A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms. phenio_relaxed_subqs.owl MONDO:0010274 biolink:NamedThing testicular germ cell tumor 1 phenio_relaxed_subqs.owl MONDO:0018193 biolink:NamedThing testicular teratoma phenio_relaxed_subqs.owl NCIT:C8591 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:273300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_713577007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000566 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:363504 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1336709 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5331 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004548 biolink:NamedThing adult type testicular granulosa cell tumor A rare sex cord-stromal tumor that arises from the testis in adults. Gynecomastia is present in approximately a quarter of the patients. Several morphologic patterns have been identified and include insular, gyriform, trabecular, pseudosarcomatous, and solid. Metastases occur in approximately twenty percent of the cases. phenio_relaxed_subqs.owl NCIT:C6357 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000567 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1336711 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001482 biolink:NamedThing testicular leukemia A myeloid or more commonly lymphoid leukemia (acute or chronic) affecting the testis. Microscopically, there is interstitial infiltration of the testis by leukemic cells. Acute lymphoblastic leukemia with testicular involvement is not uncommon in boys. Sometimes (up to 10% of the cases), testicular involvement may be the initial manifestation of relapsed acute lymphoblastic leukemia. --03 phenio_relaxed_subqs.owl DOID:12286 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C9277 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1336720 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4743 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6347 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_MGCT biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1336724 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204702 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4086 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002871 biolink:NamedThing testicular trophoblastic tumor A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas. phenio_relaxed_subqs.owl NCIT:C9313 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000570 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:363494 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1336726 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002860 biolink:NamedThing testis rhabdomyosarcoma A malignant mesenchymal tumor with skeletal muscle differentiation affecting the testis. phenio_relaxed_subqs.owl DOID:4061 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6378 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1336727 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002861 biolink:NamedThing testis sarcoma A sarcoma that arises from the testis. The majority of cases arise from teratomas or spermatocytic seminomas. phenio_relaxed_subqs.owl DOID:4062 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6359 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1336744 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1975 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6452 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1336748 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003027 biolink:NamedThing thyroid gland angiosarcoma A usually aggressive malignant vascular tumor primarily involving the thyroid gland. It is often associated with longstanding nodular goiter. phenio_relaxed_subqs.owl DOID:4514 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6043 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1336750 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8162 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6042 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_OAT biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1336751 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003806 biolink:NamedThing thyroid hyalinizing trabecular adenoma A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course. phenio_relaxed_subqs.owl DOID:6203 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6846 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_HTAT biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000588 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1336753 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019962 biolink:NamedThing thyroid lymphoma A lymphoma primarily involving the thyroid gland. phenio_relaxed_subqs.owl DOID:10011 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006462 biolink:NamedThing thyroid gland diffuse large B-cell lymphoma A diffuse large B-cell lymphoma primarily involving the thyroid gland. phenio_relaxed_subqs.owl NCIT:C5265 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:97285 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1336756 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003028 biolink:NamedThing thyroid sarcoma A malignant soft tissue neoplasm primarily involving the thyroid gland. phenio_relaxed_subqs.owl DOID:4515 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6041 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001971 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1336764 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5989 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1336878 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6886 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6176 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000610 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1336971 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003931 biolink:NamedThing childhood optic tract astrocytoma An astrocytoma that arises from the visual pathway and occurs during childhood. phenio_relaxed_subqs.owl NCIT:C7533 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1336981 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6944 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6375 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000779 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1337013 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080525 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005034 biolink:NamedThing thyroid gland follicular carcinoma A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterize the thyroid gland papillary carcinoma are absent. Radiation exposure is a risk factor and it comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. phenio_relaxed_subqs.owl MONDO:0017895 biolink:NamedThing familial papillary or follicular thyroid carcinoma A papillary or follicular thyroid gland carcinoma with a genetic component that develops within the same family. Current studies suggest that it is inherited in an autosomal dominant pattern. It is often multifocal and bilateral and usually affects younger patients. phenio_relaxed_subqs.owl NCIT:C7153 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_WDTC biolink:NamedThing phenio_relaxed_subqs.owl EFO:1002017 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:146 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1337035 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004875 biolink:NamedThing xanthogranulomatous cholecystitis Cholecystitis that is characterized by nodules containing lipid. phenio_relaxed_subqs.owl DOID:9766 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009451 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536762 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35792 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_448286002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1367536 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202999 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27479 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716590006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:289596 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1368041 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4432 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C95595 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001964 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1368066 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003525 biolink:NamedThing pancreatic gastrin-producing neuroendocrine tumor A usually malignant gastrin-producing neuroendocrine tumor arising from the pancreas. It may or may not be associated with inappropriate secretion of gastrin and an associated clinical syndrome. phenio_relaxed_subqs.owl DOID:5580 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D015408 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024638 biolink:NamedThing pancreatic gastrinoma A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption. phenio_relaxed_subqs.owl NCIT:C9069 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1368918 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018368 biolink:NamedThing primary peritoneal serous/papillary carcinoma phenio_relaxed_subqs.owl UMLS:CN205035 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6228 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7695 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:398980 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1370419 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537296 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6261 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254863004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000421 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1377785 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4931 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C9336 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_448990005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1377843 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6489 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C8970 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_PEOS biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1377904 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7928 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C9077 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1382025 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003273 biolink:NamedThing sternum cancer A malignant neoplasm involving the sternum phenio_relaxed_subqs.owl DOID:5090 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C8408 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1384641 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:184300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_387800004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1384901 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563237 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:219600 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1395264 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35073 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:397587 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1412041 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009780 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538101 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:311400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1415817 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011546 biolink:NamedThing heterotaxy, visceral, 2, autosomal phenio_relaxed_subqs.owl OMIM:605376 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1442839 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9971 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E67.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_278.4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_27712000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1443228 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN035113 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008602 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563249 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606175 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_124257002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1443900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_409562009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:254504 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1443901 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015805 biolink:NamedThing intestinal botulism A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism). phenio_relaxed_subqs.owl DOID:0050141 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015806 biolink:NamedThing adult intestinal botulism A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. phenio_relaxed_subqs.owl OBO:SCTID_409563004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:178481 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1443976 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_482.81 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_409664000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1449563 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110425 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001104 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:115200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_766883006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:300751 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1449721 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11603 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_P83.4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_778.7 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_34831003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1449809 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D048090 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024973 biolink:NamedThing pneumonia, atypical interstitial, of cattle A cattle disease of uncertain cause, probably an allergic reaction. phenio_relaxed_subqs.owl EFO:0007180 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1450052 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010870 biolink:NamedThing tibial muscular dystrophy Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life. phenio_relaxed_subqs.owl UMLS:C1838244 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111078 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600334 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_698846009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:609 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1455728 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016573 biolink:NamedThing acute fatty liver of pregnancy Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy. phenio_relaxed_subqs.owl OBO:GARD_0009578 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537957 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716379000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:243367 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1455735 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009440 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535569 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_39465007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1504412 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111545 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004475 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:176410 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237818003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1504431 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012089 biolink:NamedThing ichthyosis prematurity syndrome Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy. phenio_relaxed_subqs.owl UMLS:C1837610 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009886 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536271 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C62590 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608649 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_12381000132107 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:88621 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1509148 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006280 biolink:NamedThing lung sclerosing hemangioma A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic. phenio_relaxed_subqs.owl DOID:495 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5766 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D047868 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5656 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_707365008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000337 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1510460 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2698658 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060316 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004121 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537134 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C75481 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:311200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763833006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2750 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1511051 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7140 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40298 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1511100 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40039 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000115 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1511104 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5209 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40012 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1511316 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6657 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40356 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1512508 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005187 biolink:NamedThing human herpesvirus 8 infection An infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma. phenio_relaxed_subqs.owl NCIT:C39291 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0002612 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1512779 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024320 biolink:NamedThing inner ear neoplasm A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma. phenio_relaxed_subqs.owl MONDO:0003722 biolink:NamedThing internal auditory canal meningioma A meningioma that affects the internal auditory canal. phenio_relaxed_subqs.owl MONDO:0006190 biolink:NamedThing endolymphatic sac tumor An aggressive epithelial neoplasm arising from the temporal bone. It is characterized by the presence of a papillary pattern, and has been described as an adenoma or carcinoma in the literature. There is disagreement regarding its relationship to endolymphatic sac tumor. phenio_relaxed_subqs.owl NCIT:C39784 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1514199 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003989 biolink:NamedThing polyembryoma of the ovary A rare, malignant germ cell tumor arising from the ovary. It is characterized by the presence of embryoid bodies which resemble early embryos. phenio_relaxed_subqs.owl DOID:6774 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39990 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_OPE biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1514200 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8042 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40962 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1514284 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E87.6 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_276.8 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D007008 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C34939 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_43339004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1514608 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4087 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39915 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1514915 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5240 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39783 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1515282 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004324 biolink:NamedThing testicular fibroma A benign neoplasm that arises from the testis and is characterized by the presence of fusiform cells and collagenization. phenio_relaxed_subqs.owl DOID:7675 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39951 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1515283 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3579 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39911 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1515284 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8394 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39946 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1515288 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6021 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39942 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1515290 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6693 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39935 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1515292 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004168 biolink:NamedThing cribriform variant testicular seminoma A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in cribriform patterns and few lymphocytes. phenio_relaxed_subqs.owl DOID:7269 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40957 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1515293 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004541 biolink:NamedThing pseudoglandular variant testicular seminoma A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in pseudoglandular patterns and few lymphocytes. phenio_relaxed_subqs.owl DOID:8358 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40958 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1515294 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003973 biolink:NamedThing tubular variant testicular seminoma A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in tubular patterns and few lymphocytes. phenio_relaxed_subqs.owl DOID:6706 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40959 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1515299 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004325 biolink:NamedThing testicular thecoma A rare benign tumor that arises from the testis and is characterized by the presence of lipid-rich neoplastic spindle cells. phenio_relaxed_subqs.owl DOID:7676 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39952 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1515301 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4084 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39934 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1515303 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7302 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39927 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1515304 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8362 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39932 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1515305 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7930 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39926 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1515306 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8195 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39931 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1515307 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7097 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39924 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1515308 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8392 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39923 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1515309 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8081 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39929 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1515310 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8193 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39928 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1515311 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7435 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39930 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1515312 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7360 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39925 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1516417 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6659 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40214 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_CENE biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000167 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1516553 biolink:NamedThing phenio_relaxed_subqs.owl DOID:8106 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C41237 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_PMFPES biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1516858 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7139 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40155 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000239 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1517538 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7591 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40442 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1518230 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050934 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003922 biolink:NamedThing ovarian clear cell malignant adenofibroma A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells with clear cytoplasm in a fibrotic stroma. phenio_relaxed_subqs.owl MONDO:0006045 biolink:NamedThing ovarian clear cell adenocarcinoma A malignant glandular epithelial neoplasm characterized by the presence of clear and hobnail cells. It is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia. phenio_relaxed_subqs.owl NCIT:C40077 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1518231 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003812 biolink:NamedThing ovarian endometrial cancer A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells. phenio_relaxed_subqs.owl DOID:6212 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40051 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1518232 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6899 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40090 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_OSMCA biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000358 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1518233 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003839 biolink:NamedThing ovarian mucinous adenocarcinofibroma A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells with intracytoplasmic mucin. Cystic spaces are also present which contain mucoid material. phenio_relaxed_subqs.owl NCIT:C40033 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_MOV biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1518355 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7665 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39991 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1518691 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6232 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39992 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1518693 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205034 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5304 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40078 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763131005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000042 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:398971 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1518694 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003695 biolink:NamedThing ovarian clear cell adenofibroma An uncommon benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma. phenio_relaxed_subqs.owl DOID:5897 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003694 biolink:NamedThing ovarian clear cell cystadenofibroma A benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma and cystic structures. phenio_relaxed_subqs.owl NCIT:C40085 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1518695 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5896 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40086 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1518713 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7191 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40075 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1518715 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6314 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39996 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1518716 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3578 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39985 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:424500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716594002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000420 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:206484 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1518720 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002227 biolink:NamedThing ovarian lymphoma A lymphoma that affects the ovary. Lymphomatous involvement of the ovary is rare and in approximately half of the cases both ovaries are affected. phenio_relaxed_subqs.owl DOID:2150 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40021 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1518721 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002223 biolink:NamedThing ovarian malignant mesothelioma A rare malignant mesothelial neoplasm that usually involves both the ovarian surface and the ovarian stroma. In most cases there is bilateral ovarian involvement. phenio_relaxed_subqs.owl DOID:2143 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40444 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1518723 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6469 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004074 biolink:NamedThing ovarian mucinous cystadenofibroma A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma. phenio_relaxed_subqs.owl NCIT:C40040 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1518725 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7013 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40041 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1518727 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5351 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016096 biolink:NamedThing malignant non-dysgerminomatous germ cell tumor of ovary A malignant germ cell tumor other than dysgerminoma that arises from the ovary. phenio_relaxed_subqs.owl NCIT:C39986 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1518729 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006340 biolink:NamedThing ovarian serous adenofibroma A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma. phenio_relaxed_subqs.owl DOID:5474 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40031 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000428 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1518736 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004319 biolink:NamedThing hypercalcemic type ovarian small cell carcinoma An undifferentiated small cell carcinoma that arises from the ovary and is associated with hypercalcemia. Electron microscopic studies show neurosecretory granules are either absent or, when present, are in small numbers. phenio_relaxed_subqs.owl DOID:7651 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40439 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1518737 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004318 biolink:NamedThing pulmonary type ovarian small cell carcinoma An aggressive small cell neuroendocrine carcinoma that arises from the ovary. Morphologically, it resembles the small cell carcinoma that arises from the lung. phenio_relaxed_subqs.owl DOID:7650 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40440 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1518739 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5532 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003494 biolink:NamedThing ovarian squamous cell carcinoma A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor. phenio_relaxed_subqs.owl NCIT:C40092 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1518743 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7347 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40446 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1518746 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002230 biolink:NamedThing ovarian Wilms tumor An embryonal neoplasm arising from the ovary with morphologic features resembling Wilms tumor of the kidney. It occurs during the reproductive age and may present as a rapidly growing adnexal mass. phenio_relaxed_subqs.owl DOID:2153 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40443 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1518747 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6511 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39988 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1518748 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6512 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39989 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1518749 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6514 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39987 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1519709 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858968 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110115 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565833 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39576 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603909 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1519711 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C39577 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1519845 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7242 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40163 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1519847 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13953 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40172 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1519850 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13951 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40164 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1519852 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7241 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40165 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1519853 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13958 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40167 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1519856 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13957 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40168 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000614 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1519860 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13956 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40166 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1520084 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6943 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40291 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000778 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1527225 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000016 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0001760 biolink:NamedThing photokeratitis Injury to the cornea secondary to ultraviolet light. phenio_relaxed_subqs.owl MONDO:0015643 biolink:NamedThing photosensitive epilepsy An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights. phenio_relaxed_subqs.owl MONDO:0033838 biolink:NamedThing radiation-induced plexopathy phenio_relaxed_subqs.owl MONDO:0043458 biolink:NamedThing radiation injury Harmful effects of non-experimental exposure to ionizing or non-ionizing radiation in VERTEBRATES. phenio_relaxed_subqs.owl MONDO:0043735 biolink:NamedThing osteoradionecrosis Necrosis of bone following radiation injury. phenio_relaxed_subqs.owl MONDO:0043771 biolink:NamedThing radiodermatitis A cutaneous inflammatory reaction occurring as a result of exposure to biologically effective levels of ionizing radiation. phenio_relaxed_subqs.owl MONDO:0043919 biolink:NamedThing radiation pneumonitis Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation. phenio_relaxed_subqs.owl NCIT:C26684 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_85983004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:521132 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1527231 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015339 biolink:NamedThing adrenomyeloneuropathy An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN. phenio_relaxed_subqs.owl OBO:GARD_0010614 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_65389002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:139399 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1527407 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5870 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004806 biolink:NamedThing chronic eosinophilic pneumonia Chronic inflammatory disorder of the lungs characterized by the presence of eosinophils in the interalveolar septa and alveolar spaces and peripheral blood eosinophilia. Chest x-rays reveal peripheral infiltrates. Approximately half of the patients have history of asthma or atopic disease. Signs and symptoms include fever, dyspnea, cough, and weight loss. Following treatment with corticosteroids, the eosinophilic infiltrates in the lungs disappear, resulting in dramatic clinical improvement. phenio_relaxed_subqs.owl MONDO:0015927 biolink:NamedThing idiopathic eosinophilic pneumonia phenio_relaxed_subqs.owl NCIT:C35150 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007257 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1535939 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11339 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004386 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_B59 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D011020 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3334 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_415125002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007448 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:723 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1535942 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3266027 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010980 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_449731009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:227982 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1540912 biolink:NamedThing phenio_relaxed_subqs.owl DOID:999 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002804 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D017681 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004941 biolink:NamedThing eosinophilia-myalgia syndrome A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include eosinophilia, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn wd, Semin Arthritis Rheum 1997 Jun;26(6):788-93) phenio_relaxed_subqs.owl MONDO:0017833 biolink:NamedThing primary hypereosinophilic syndrome phenio_relaxed_subqs.owl MONDO:0017834 biolink:NamedThing secondary hypereosinophilic syndrome phenio_relaxed_subqs.owl MONDO:0100059 biolink:NamedThing hypereosinophilia of undetermined significance Long-lasting, unexplained and asymptomatic blood hypereosinophilia. phenio_relaxed_subqs.owl MONDO:0500000 biolink:NamedThing episodic angioedema with eosinophilia A disorder characterized by episodes of swelling under the skin (angioedema) and an elevated number of the white blood cells known as eosinophils (eosinophilia). During these episodes, symptoms of hives (urticaria), fever, swelling, weight gain and eosinophilia may occur. Symptoms usually appear every 3-4 weeks and resolve on their own within several days. Other cells may be elevated during the episodes, such as neutrophils and lymphocytes. Although the syndrome is often considered a subtype of the idiopathic hypereosinophilic syndromes, it does not typically have organ involvement or lead to other health concerns. phenio_relaxed_subqs.owl NCIT:C27038 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_419455006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001467 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:168956 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1562462 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001609 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_417441005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:504 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1563715 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050434 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009453 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D050030 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84559 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:170390 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_422348008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:37553 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1563719 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090094 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003071 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C75480 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:308700 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1563720 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090083 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003070 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:147950 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1563751 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050738 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D050174 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010761 biolink:NamedThing retinitis pigmentosa Y-linked Y-linked form of retinitis pigmentosa. phenio_relaxed_subqs.owl MONDO:0033304 biolink:NamedThing nonsyndromic deafness, Y-linked phenio_relaxed_subqs.owl UMLS:C1567741 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018965 biolink:NamedThing Alport syndrome A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities. phenio_relaxed_subqs.owl DOID:10983 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_Q87.81 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010520 biolink:NamedThing X-linked Alport syndrome X-linked form of Alport syndrome. phenio_relaxed_subqs.owl NCIT:C34842 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_301050 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:63 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1568248 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110828 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005442 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126329 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:231183 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1578917 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563258 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019010 biolink:NamedThing congenital isolated hyperinsulinism Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism. phenio_relaxed_subqs.owl NCIT:C4375 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:147630 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_274944000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1608393 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0100354 biolink:NamedThing megacystis-microcolon-intestinal hypoperistalsis syndrome 1 phenio_relaxed_subqs.owl DOID:0060610 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003442 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536138 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C98982 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:249210 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_253781004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2241 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1608983 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006959 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_446079007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:210272 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1609538 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D055985 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_11999007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1617072 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0044750 biolink:NamedThing lassa virus infectious disease phenio_relaxed_subqs.owl OBO:SCTID_721779001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1627365 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009714 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537031 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_418040002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1627767 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35685 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_404109006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:178512 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1704327 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021054 biolink:NamedThing bone sarcoma A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma. phenio_relaxed_subqs.owl DOID:0080639 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002142 biolink:NamedThing undifferentiated pleomorphic sarcoma An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma. phenio_relaxed_subqs.owl MONDO:0002619 biolink:NamedThing bone fibrosarcoma A usually aggressive malignant neoplasm arising from the bone. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. phenio_relaxed_subqs.owl MONDO:0002629 biolink:NamedThing bone osteosarcoma A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs. phenio_relaxed_subqs.owl NCIT:C9312 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_448710000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:223727 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1704778 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4915 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27392 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1704981 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007768 biolink:NamedThing hyperparathyroidism 2 with jaw tumors An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts. phenio_relaxed_subqs.owl OBO:GARD_0010829 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C48287 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:145001 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702378002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99880 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1706762 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226945 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C48451 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000015 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:231625 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1707525 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C48449 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000208 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1708107 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0023206 biolink:NamedThing functional pancreatic neuroendocrine tumor A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of a clinical syndrome that results from hormone hypersecretion. phenio_relaxed_subqs.owl OBO:GARD_0002414 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024677 biolink:NamedThing pancreatic insulinoma An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin. phenio_relaxed_subqs.owl NCIT:C45840 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:506060 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1708174 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C43606 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000265 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1708350 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007888 biolink:NamedThing hereditary leiomyomatosis and renal cell cancer Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. phenio_relaxed_subqs.owl UMLS:CN073087 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN239164 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003218 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010096 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535516 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C51302 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:150800 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:523 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1708353 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017366 biolink:NamedThing hereditary pheochromocytoma-paraganglioma Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas). phenio_relaxed_subqs.owl OBO:GARD_0011984 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:29072 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1708362 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6607 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6997 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1708371 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010771 biolink:NamedThing histiocytoid cardiomyopathy Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium. phenio_relaxed_subqs.owl UMLS:CN239812 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080198 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009511 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535584 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008911 biolink:NamedThing cardiac lipidosis, familial phenio_relaxed_subqs.owl NCIT:C45745 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:500000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:137675 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1709240 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C48458 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000399 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1709353 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836723 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563276 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563787 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C53970 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607278 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609143 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:488265 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1709457 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011368 biolink:NamedThing papillary thyroid Microcarcinoma A papillary carcinoma of the thyroid gland measuring 10mm or less in diameter. The survival rates of patients with this type of carcinoma are the same with those of the normal population. phenio_relaxed_subqs.owl OBO:MESH_C563277 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C46004 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603744 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1710067 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C48452 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000523 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1710146 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C531624 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C50749 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:182950 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_426055002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1710177 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C46008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000594 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1719788 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008047 biolink:NamedThing episodic ataxia type 1 Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia. phenio_relaxed_subqs.owl UMLS:CN042654 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050989 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:160120 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_421182009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:37612 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1720999 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D053489 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1721006 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007758 biolink:NamedThing epidermolytic palmoplantar keratoderma A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas. phenio_relaxed_subqs.owl DOID:0080223 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002826 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84693 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:144200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_399955009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2199 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1721016 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D053570 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1739094 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050352 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_005.1 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128341 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_398523009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:228371 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1801959 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011338 biolink:NamedThing Omenn syndrome An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID). phenio_relaxed_subqs.owl DOID:0060010 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008198 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C61240 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603554 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722067005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:39041 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1802395 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080506 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C75485 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300590 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1802398 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016956 biolink:NamedThing partial trisomy of the long arm of chromosome 5 Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person. phenio_relaxed_subqs.owl OBO:GARD_0005351 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537650 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016461 biolink:NamedThing 5q35 microduplication syndrome The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation. phenio_relaxed_subqs.owl MONDO:0019880 biolink:NamedThing distal trisomy 5q Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism). phenio_relaxed_subqs.owl ORPHA:262869 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1809475 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009267 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538113 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:172500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237612000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1812609 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050508 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_050.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_47452006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1829703 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009705 biolink:NamedThing carnitine palmitoyl transferase 1A deficiency Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure. phenio_relaxed_subqs.owl DOID:0090129 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001120 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535588 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C98871 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:255120 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238001003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:156 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832111 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002025 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563290 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601561 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1804 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832162 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110711 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003066 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537698 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601553 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1573 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832214 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563296 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601537 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832215 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050682 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008333 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019075 biolink:NamedThing Bosley-Salih-Alorainy syndrome Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation. phenio_relaxed_subqs.owl OMIM:601536 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720518006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:69739 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832229 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011097 biolink:NamedThing Axenfeld-Rieger syndrome type 2 An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14. phenio_relaxed_subqs.owl DOID:0110121 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535680 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601499 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832241 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011096 biolink:NamedThing autosomal agammaglobulinemia Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea. phenio_relaxed_subqs.owl OBO:GARD_0009640 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538056 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012987 biolink:NamedThing agammaglobulinemia 6, autosomal recessive Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene. phenio_relaxed_subqs.owl MONDO:0013287 biolink:NamedThing agammaglobulinemia 2, autosomal recessive Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene. phenio_relaxed_subqs.owl MONDO:0013288 biolink:NamedThing agammaglobulinemia 3, autosomal recessive Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene. phenio_relaxed_subqs.owl MONDO:0013289 biolink:NamedThing agammaglobulinemia 4, autosomal recessive Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene. phenio_relaxed_subqs.owl MONDO:0013290 biolink:NamedThing agammaglobulinemia 5, autosomal dominant Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene. phenio_relaxed_subqs.owl MONDO:0014083 biolink:NamedThing agammaglobulinemia 7, autosomal recessive Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene. phenio_relaxed_subqs.owl MONDO:0014840 biolink:NamedThing agammaglobulinemia 8, autosomal dominant Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene. phenio_relaxed_subqs.owl MONDO:0020729 biolink:NamedThing autosomal recessive agammaglobulinemia 1 phenio_relaxed_subqs.owl ORPHA:33110 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832243 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011095 biolink:NamedThing dilated cardiomyopathy 1D Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene. phenio_relaxed_subqs.owl DOID:0110426 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563306 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601494 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832273 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008494 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537613 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601477 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832274 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011091 biolink:NamedThing Charcot-Marie-Tooth disease type 2D Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow. phenio_relaxed_subqs.owl UMLS:C4274109 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110164 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001251 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537993 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C122659 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601472 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717011006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99938 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832284 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024466 biolink:NamedThing facial paresis, hereditary congenital, 1 phenio_relaxed_subqs.owl OMIM:601471 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832322 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011086 biolink:NamedThing severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia. phenio_relaxed_subqs.owl DOID:0090013 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010339 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563311 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601457 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:331206 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832334 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011085 biolink:NamedThing Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported. phenio_relaxed_subqs.owl DOID:0110186 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003973 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535716 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601455 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715798007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99950 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832354 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011080 biolink:NamedThing progressive deafness with stapes fixation Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease). phenio_relaxed_subqs.owl OBO:GARD_0005170 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563316 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601449 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715529009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3235 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832362 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003062 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537694 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601427 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2321 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832369 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003614 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537547 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601420 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832370 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011076 biolink:NamedThing myofibrillar myopathy 1 Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure. phenio_relaxed_subqs.owl DOID:0080092 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601419 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98909 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832387 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563323 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601407 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832388 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010352 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563324 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0100083 biolink:NamedThing hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL. phenio_relaxed_subqs.owl OBO:SCTID_725034002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:71290 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832391 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001227 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538072 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601389 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832392 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110751 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563326 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601388 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832399 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011066 biolink:NamedThing Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus). phenio_relaxed_subqs.owl DOID:0110191 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001253 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535420 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601382 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715803003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99955 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832411 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002682 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536180 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601375 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1808 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832412 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011062 biolink:NamedThing aprosencephaly cerebellar dysgenesis phenio_relaxed_subqs.owl OBO:MESH_C563331 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601374 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1126 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832422 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011061 biolink:NamedThing chorea, remitting, with nystagmus and cataract phenio_relaxed_subqs.owl OBO:GARD_0009606 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535355 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601372 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832431 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011055 biolink:NamedThing distal monosomy 10p Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13. phenio_relaxed_subqs.owl UMLS:C4304502 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001323 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563337 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C130982 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601362 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719686003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1580 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832432 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563338 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601360 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_726735000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1027 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832434 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000388 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000641 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536713 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601357 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832435 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004827 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537598 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601356 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832438 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011047 biolink:NamedThing deafness-epiphyseal dysplasia-short stature syndrome This syndrome is characterised by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit). phenio_relaxed_subqs.owl OBO:GARD_0001688 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535928 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601351 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716238003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3218 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832439 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004838 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537121 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601350 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719213009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2867 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832441 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563344 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601348 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832442 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563345 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601347 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832443 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199270 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601346 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:137862 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832444 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010526 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563347 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601345 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715576000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:69083 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832464 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563348 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601344 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832465 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563349 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601341 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832474 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011033 biolink:NamedThing type 1 diabetes mellitus 13 A type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 2q34. phenio_relaxed_subqs.owl DOID:0110752 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563352 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601318 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832544 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563359 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601283 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832588 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011022 biolink:NamedThing Potocki-Shaffer syndrome Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). phenio_relaxed_subqs.owl DOID:0111687 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009762 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538356 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C75456 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601224 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702346005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:52022 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832592 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000404 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536062 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601220 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722113001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2786 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832600 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080551 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009795 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538346 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601214 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715535009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:34217 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832605 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011016 biolink:NamedThing type 1 diabetes mellitus 11 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 14q24.3-q31. phenio_relaxed_subqs.owl DOID:0110750 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563371 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601208 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832615 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009397 biolink:NamedThing neonatal severe primary hyperparathyroidism Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism. phenio_relaxed_subqs.owl OBO:GARD_0002838 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563375 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131853 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:239200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715218009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:417 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832648 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111387 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002910 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537156 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007796 biolink:NamedThing hypoparathyroidism, familial isolated 1 phenio_relaxed_subqs.owl MONDO:0020798 biolink:NamedThing hypoparathyroidism, familial isolated, 2 phenio_relaxed_subqs.owl OBO:OMIMPS_146200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_725036000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2238 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832665 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563378 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601170 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832677 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563382 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601161 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832680 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110433 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005644 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563384 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601154 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832736 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010998 biolink:NamedThing ALG3-CDG A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3). phenio_relaxed_subqs.owl DOID:0080556 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009827 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535742 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126870 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601110 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720976009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79321 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832813 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010991 biolink:NamedThing laterality defects, autosomal dominant phenio_relaxed_subqs.owl OBO:GARD_0003198 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563391 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601086 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832841 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010985 biolink:NamedThing epilepsy, familial adult myoclonic, 1 phenio_relaxed_subqs.owl DOID:0111690 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563399 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601068 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832858 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002957 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563402 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601039 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832874 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536177 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601016 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1678 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832916 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060173 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009294 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536962 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021171 biolink:NamedThing Timothy syndrome, classic type Classic form of Timothy syndrome, includes all features of generic. phenio_relaxed_subqs.owl MONDO:0021172 biolink:NamedThing Timothy syndrome, atypical type Atypical form of Timothy syndrome, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death. phenio_relaxed_subqs.owl NCIT:C142894 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:65283 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832917 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563407 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832918 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010977 biolink:NamedThing Brody myopathy Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder. phenio_relaxed_subqs.owl DOID:0050692 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009158 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536607 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601003 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_703530005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:53347 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832942 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111543 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563412 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:175050 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1832950 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111697 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563414 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600987 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833053 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010961 biolink:NamedThing obesity due to prohormone convertase I deficiency Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones. phenio_relaxed_subqs.owl UMLS:C4302878 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111698 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563423 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600955 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722053001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:71528 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833104 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060639 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010457 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019207 biolink:NamedThing DEND syndrome DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes. phenio_relaxed_subqs.owl MONDO:0030087 biolink:NamedThing diabetes mellitus, permanent neonatal 2 phenio_relaxed_subqs.owl MONDO:0030088 biolink:NamedThing diabetes mellitus, permanent neonatal 3 phenio_relaxed_subqs.owl MONDO:0030089 biolink:NamedThing diabetes mellitus, permanent neonatal 4 phenio_relaxed_subqs.owl NCIT:C114902 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_606176 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_609565001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99885 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833162 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600908 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833163 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004801 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563430 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600907 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833169 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002052 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538018 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600906 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833218 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010950 biolink:NamedThing type 1 diabetes mellitus 8 A type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 6q25-q27. phenio_relaxed_subqs.owl DOID:0110747 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563433 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600883 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833219 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010949 biolink:NamedThing Charcot-Marie-Tooth disease type 2B Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood. phenio_relaxed_subqs.owl DOID:0110159 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009192 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537989 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600882 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717008005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99936 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833247 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010943 biolink:NamedThing schizophrenia 4 A schizophrenia that has material basis in an autosomal dominant mutation of PRODH on chromosome 22q11.21. phenio_relaxed_subqs.owl DOID:0070080 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600850 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833268 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563439 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600808 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833275 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010938 biolink:NamedThing T-B+ severe combined immunodeficiency due to JAK3 deficiency Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. phenio_relaxed_subqs.owl UMLS:C4273742 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563440 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600802 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718107000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:35078 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833276 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600801 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833296 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010936 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 7 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the CHMP2B gene. phenio_relaxed_subqs.owl UMLS:C1836076 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060208 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111227 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563708 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C579991 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600795 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614696 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702393003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833308 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015353 biolink:NamedThing neuronopathy, distal hereditary motor, type 5A phenio_relaxed_subqs.owl DOID:0111204 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600794 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833339 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000719 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537767 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600776 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720496006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1104 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833341 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010610 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563447 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600771 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833372 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060702 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002878 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537147 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600740 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101050 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833380 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010925 biolink:NamedThing velo-facial-skeletal syndrome Velo-facial-skeletal syndrome is a very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported. phenio_relaxed_subqs.owl OBO:GARD_0005469 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536536 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600736 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763616002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3424 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833429 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010924 biolink:NamedThing D-2-hydroxyglutaric aciduria D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid. phenio_relaxed_subqs.owl UMLS:CN233040 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050575 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005661 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013345 biolink:NamedThing d-2-hydroxyglutaric aciduria 2 Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene. phenio_relaxed_subqs.owl MONDO:0024554 biolink:NamedThing D-2-hydroxyglutaric aciduria 1 Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene. phenio_relaxed_subqs.owl OBO:OMIMPS_600721 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237960000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79315 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833453 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563453 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600706 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:521305 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833454 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010922 biolink:NamedThing Satoyoshi syndrome Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates (malabsorption). People affected by Satoyoshi syndrome may also have loss of hair on the head and body (alopecia universalis), short stature, and skeletal abnormalities. Women with Satoyoshi syndrome may not have a menstrual cycle (amenorrhea). In all published cases, only one person in a family has Satoyoshi syndrome. This is even true when the person with Satoyoshi syndrome comes from a large family. Satoyoshi syndrome seems to be more common in Japan. The exact cause of the syndrome is unknown, but some researchers think it may be an autoimmune disease. Satoyoshi syndrome can be diagnosed when a doctor sees symptoms that are consistent with the syndrome. The diagnosis can be confirmed by a variety of laboratory tests. Treatment for Satoyoshi syndrome includes medication to suppress the immune system. phenio_relaxed_subqs.owl OBO:GARD_0000160 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536616 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600705 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763630007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3130 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833473 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563455 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600679 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:141103 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833477 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070272 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563456 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614350 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833487 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563458 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600670 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833508 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563461 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:255110 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:228302 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833511 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563462 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600649 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:228305 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833518 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563463 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608836 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:228308 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833562 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010907 biolink:NamedThing familial hypertryptophanemia Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria. phenio_relaxed_subqs.owl UMLS:C2931837 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111703 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002871 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538393 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600627 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721838005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2224 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833577 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563470 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600598 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833607 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002620 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535855 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600559 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721015008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2119 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833661 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008179 biolink:NamedThing paroxysmal extreme pain disorder Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation. phenio_relaxed_subqs.owl DOID:0111537 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012854 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563475 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C125385 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:167400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_699190008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:46348 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833662 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050881 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010899 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008178 biolink:NamedThing inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia. phenio_relaxed_subqs.owl MONDO:0014178 biolink:NamedThing inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA2B1 gene. phenio_relaxed_subqs.owl MONDO:0014179 biolink:NamedThing inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA1 gene. phenio_relaxed_subqs.owl OBO:OMIMPS_167320 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_703544004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:52430 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833688 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002277 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563478 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:166990 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833689 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563479 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:166910 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833697 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563483 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:166740 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833698 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000351 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536061 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:166705 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721082002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1562 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833733 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563485 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:166400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833790 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008184 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537142 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:165680 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833791 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563488 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:165670 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833792 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004129 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537138 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:165660 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733064004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2760 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833799 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563494 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:165510 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833809 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111433 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010203 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537128 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:165300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719517009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:67036 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833830 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008132 biolink:NamedThing optic atrophy with demyelinating disease of CNS phenio_relaxed_subqs.owl DOID:0111756 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563496 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:165200 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833831 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008131 biolink:NamedThing optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant phenio_relaxed_subqs.owl OBO:MESH_C563497 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:165199 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833836 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563499 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:165098 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833839 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563500 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:165000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833872 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004365 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563501 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:164900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715484003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2741 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833909 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008125 biolink:NamedThing nonsyndromic congenital nail disorder 5 phenio_relaxed_subqs.owl DOID:0080083 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563503 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:164800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833921 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050547 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536911 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:155240 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99361 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833995 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011781 biolink:NamedThing spinocerebellar ataxia type 17 A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy. phenio_relaxed_subqs.owl UMLS:C1846707 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859299 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050967 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010469 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563505 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564616 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565866 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:164700 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:213100 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607136 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719249005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98759 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1833997 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563506 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:164680 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834078 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008107 biolink:NamedThing nystagmus, hereditary vertical phenio_relaxed_subqs.owl OBO:GARD_0009604 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537857 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:164150 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834143 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563512 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:163850 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834144 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008102 biolink:NamedThing sick sinus syndrome 2, autosomal dominant Any sick sinus syndrome in which the cause of the disease is a mutation in the HCN4 gene. phenio_relaxed_subqs.owl OBO:MESH_C563513 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:163800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834180 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563516 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:162600 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834205 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563517 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:162380 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834206 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010086 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535714 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:162370 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834207 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4284284 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110720 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001222 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128116 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:162350 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:228343 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834232 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010543 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563522 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:162240 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834235 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563523 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:162210 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834340 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563530 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:161700 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834369 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:161530 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834370 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:161500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834371 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563533 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:161470 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834478 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226018 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226030 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226270 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060651 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000179 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000180 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537831 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131646 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:153640 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:155100 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600208 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605249 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234484005 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234485006 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_236422008 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_712922002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1019 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:182050 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1984 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:807 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:850 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834531 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008053 biolink:NamedThing myopia 2, autosomal dominant phenio_relaxed_subqs.owl OBO:MESH_C563541 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:160700 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834532 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563542 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:160570 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834558 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111217 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012719 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013736 biolink:NamedThing myopathy, centronuclear, 3 Any autosomal dominant centronuclear myopathy in which the cause of the disease is a mutation in the MYF6 gene. phenio_relaxed_subqs.owl NCIT:C126689 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:160150 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716696006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:169189 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834559 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001512 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:972 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834567 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563546 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:160010 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_725903003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99846 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834581 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563550 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:159600 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834651 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563553 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:159100 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834652 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563554 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:159050 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834659 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012215 biolink:NamedThing myofibrillar myopathy 3 A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years. phenio_relaxed_subqs.owl UMLS:C1836607 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080094 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010229 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535906 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563775 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008448 biolink:NamedThing spheroid body myopathy Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations. phenio_relaxed_subqs.owl OMIM:159000 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719985001 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_765196004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:266 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98911 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834671 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008031 biolink:NamedThing facioscapulohumeral muscular dystrophy 2 Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene. phenio_relaxed_subqs.owl DOID:0111193 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563557 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C172705 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:158901 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834689 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563559 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:158650 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834690 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008026 biolink:NamedThing autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures phenio_relaxed_subqs.owl OBO:MESH_C563560 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:158600 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:209341 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834692 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008025 biolink:NamedThing neuronopathy, distal hereditary motor, type 2A Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB8 gene. phenio_relaxed_subqs.owl DOID:0111208 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563561 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:158590 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834703 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008024 biolink:NamedThing neuronopathy, distal hereditary motor, type 7A Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the SLC5A7 gene. phenio_relaxed_subqs.owl DOID:0111201 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563562 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:158580 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834708 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563563 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:158400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834724 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000291 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563566 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:158345 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834741 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:158250 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834753 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563570 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:158100 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834759 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008008 biolink:NamedThing MOMO syndrome MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype. phenio_relaxed_subqs.owl OBO:GARD_0000178 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535812 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:157980 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724137002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2563 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834821 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010622 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563574 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:250460 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1838 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834846 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024528 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene. phenio_relaxed_subqs.owl DOID:0111521 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:157640 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834877 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110872 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563579 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C74995 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:157170 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834880 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005481 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536540 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:157151 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2551 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834881 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009462 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537468 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:157150 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834918 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563581 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:156900 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1834968 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563585 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:156520 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835007 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563587 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:156310 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835010 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007313 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563589 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:156230 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835026 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007975 biolink:NamedThing meralgia paraesthetica, familial phenio_relaxed_subqs.owl OBO:MESH_C563590 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:156220 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835028 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563591 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:156190 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835042 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111511 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008468 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536149 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:155755 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717968005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:252206 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835087 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007956 biolink:NamedThing Pai syndrome Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development. phenio_relaxed_subqs.owl OBO:GARD_0003439 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536135 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:155145 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722201004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1993 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835088 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006991 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563599 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:155000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835134 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563601 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:154570 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835171 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007937 biolink:NamedThing renal hypomagnesemia 2 Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed. phenio_relaxed_subqs.owl UMLS:C4511005 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060885 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003350 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537152 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:154020 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_725393000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:34528 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835265 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007918 biolink:NamedThing microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. phenio_relaxed_subqs.owl DOID:0060349 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003622 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537711 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:152950 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2526 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835303 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0043120 biolink:NamedThing male pseudohermaphroditism due to defective lh molecule phenio_relaxed_subqs.owl OBO:GARD_0003356 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535692 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835320 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563613 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:152550 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835359 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:152300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835373 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007907 biolink:NamedThing lipoma of the conjunctiva phenio_relaxed_subqs.owl OBO:MESH_C563620 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:151700 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835395 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563621 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:151640 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835398 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836481 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111503 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563754 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:151623 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609266 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835403 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563625 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:151610 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835405 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563626 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:151500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835437 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111508 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004382 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563627 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:151210 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:85166 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835484 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563630 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:151000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835489 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563632 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:150590 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835491 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563633 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:150500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835591 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563640 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:150170 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835650 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007860 biolink:NamedThing focal palmoplantar and gingival keratoderma Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement. phenio_relaxed_subqs.owl OBO:GARD_0003098 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536157 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:148730 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764963007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2200 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835663 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563646 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:148520 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:86919 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835672 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111505 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003094 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536152 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:148350 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2202 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835697 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563650 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:148200 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835698 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4017065 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN068649 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111383 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003089 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537022 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:148190 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715339004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2334 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835817 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111094 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563657 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610832 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835818 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010456 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563658 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610830 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835819 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110873 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610829 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835820 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110876 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563660 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610828 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835826 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012561 biolink:NamedThing congenital anomalies of kidney and urinary tract 1 Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene. phenio_relaxed_subqs.owl DOID:0080206 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563661 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610805 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835829 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012559 biolink:NamedThing primary immunodeficiency syndrome due to p14 deficiency Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections. phenio_relaxed_subqs.owl UMLS:C4305256 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563663 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610798 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718717004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90023 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835830 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563664 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610797 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835845 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4305259 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563665 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610773 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718713000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:91130 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835857 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010468 biolink:NamedThing aneurysm, intracranial berry, 5 phenio_relaxed_subqs.owl OBO:MESH_C563670 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300870 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835887 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563672 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610374 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_609580007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835896 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012476 biolink:NamedThing hereditary spastic paraplegia 30 Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy. phenio_relaxed_subqs.owl DOID:0110781 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563677 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610357 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763377006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101010 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835910 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010146 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535681 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610338 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835912 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012472 biolink:NamedThing Aicardi-Goutieres syndrome 4 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2A gene. phenio_relaxed_subqs.owl OBO:GARD_0010896 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563681 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610333 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835913 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012064 biolink:NamedThing choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome. phenio_relaxed_subqs.owl OBO:GARD_0010041 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563682 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608572 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1200 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835916 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012471 biolink:NamedThing Aicardi-Goutieres syndrome 3 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2C gene. phenio_relaxed_subqs.owl OBO:GARD_0010895 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563683 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610329 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835922 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012368 biolink:NamedThing aminoacylase 1 deficiency Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms. phenio_relaxed_subqs.owl OBO:GARD_0009741 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538246 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609924 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_709282004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001981 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:137754 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835924 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563686 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609919 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835925 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563687 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609918 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835931 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012359 biolink:NamedThing combined immunodeficiency due to partial RAG1 deficiency A form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia. phenio_relaxed_subqs.owl UMLS:C4510944 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563691 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609889 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_725290000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:231154 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835933 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012357 biolink:NamedThing glaucoma 1, open angle, G Any open-angle glaucoma in which the cause of the disease is a mutation in the WDR36 gene. phenio_relaxed_subqs.owl OBO:MESH_C563692 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609887 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1835934 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008073 biolink:NamedThing familial juvenile hyperuricemic nephropathy type 1 A rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age. phenio_relaxed_subqs.owl UMLS:C4054550 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206322 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN239214 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006806 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010679 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563693 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C123172 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:162000 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603860 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609886 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_445503007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0008618 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:209886 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:88950 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836007 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010354 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563701 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609545 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836010 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012297 biolink:NamedThing SPOAN syndrome A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2. phenio_relaxed_subqs.owl DOID:0060491 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563702 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609541 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:320406 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836032 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010198 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536291 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609529 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836033 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060337 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009940 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537943 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609528 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722385008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:66631 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836074 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010058 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535534 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609515 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836080 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012287 biolink:NamedThing Stickler syndrome, type I, nonsyndromic ocular phenio_relaxed_subqs.owl OMIM:609508 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836118 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012285 biolink:NamedThing left ventricular noncompaction 2 phenio_relaxed_subqs.owl OMIM:609470 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836119 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563713 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609469 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836120 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010063 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536427 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609466 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836121 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012282 biolink:NamedThing Al-Gazali syndrome An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality. phenio_relaxed_subqs.owl OBO:GARD_0010054 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536817 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609465 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2725 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836122 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861303 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050678 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000304 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538157 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C116794 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:186580 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609464 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_699861000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90340 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90341 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836123 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012280 biolink:NamedThing Goldberg-Shprintzen megacolon syndrome Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability. phenio_relaxed_subqs.owl DOID:0060481 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009849 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537279 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609460 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717822006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:66629 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836148 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563717 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609454 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836155 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012277 biolink:NamedThing myofibrillar myopathy 4 Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases. phenio_relaxed_subqs.owl DOID:0080095 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001886 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563718 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609452 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98912 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836202 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010064 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537452 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609438 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836254 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110879 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563723 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609408 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836255 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012266 biolink:NamedThing preeclampsia/eclampsia 4 Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene. phenio_relaxed_subqs.owl OBO:MESH_C563724 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609404 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836256 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012265 biolink:NamedThing preeclampsia/eclampsia 3 phenio_relaxed_subqs.owl OMIM:609403 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836257 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012264 biolink:NamedThing preeclampsia/eclampsia 2 phenio_relaxed_subqs.owl OMIM:609402 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836284 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563730 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609352 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716700003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:158681 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836295 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012256 biolink:NamedThing hereditary spastic paraplegia 28 Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs. phenio_relaxed_subqs.owl DOID:0110779 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563732 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609340 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763376002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836305 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012255 biolink:NamedThing chromosome 18 pericentric inversion phenio_relaxed_subqs.owl OBO:MESH_C563734 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609334 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836330 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN229776 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060483 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563739 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609313 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722035007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:171851 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836336 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012250 biolink:NamedThing Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy phenio_relaxed_subqs.owl DOID:0110192 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012442 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563740 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609311 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715802008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99954 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836383 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012247 biolink:NamedThing spinocerebellar ataxia type 27 Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia. phenio_relaxed_subqs.owl UMLS:C4304846 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050976 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009963 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537204 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609307 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719252002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98764 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836395 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012246 biolink:NamedThing spinocerebellar ataxia type 26 Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. phenio_relaxed_subqs.owl DOID:0050975 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009995 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537203 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609306 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718769009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101112 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836437 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563745 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609296 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836438 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009502 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536849 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609289 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836439 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012241 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the TWNK gene. phenio_relaxed_subqs.owl DOID:0111520 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563747 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609286 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836447 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012240 biolink:NamedThing nemaline myopathy 4 Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene. phenio_relaxed_subqs.owl DOID:0110932 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538351 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609285 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836448 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012239 biolink:NamedThing nemaline myopathy 1 Any nemaline myopathy in which the cause of the disease is a mutation in the TPM3 gene. phenio_relaxed_subqs.owl DOID:0110926 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538348 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609284 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836460 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012238 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene. phenio_relaxed_subqs.owl DOID:0111517 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563750 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609283 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836472 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012237 biolink:NamedThing nemaline myopathy 6 Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene. phenio_relaxed_subqs.owl DOID:0110935 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538398 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609273 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836482 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111504 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563755 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609265 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836484 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012232 biolink:NamedThing stuttering, familial persistent, 2 phenio_relaxed_subqs.owl OBO:MESH_C563756 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609261 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836485 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012231 biolink:NamedThing Charcot-Marie-Tooth disease type 2A2 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported. phenio_relaxed_subqs.owl DOID:0110155 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563757 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C150646 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609260 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764850002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99947 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836503 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012230 biolink:NamedThing myopia 10 phenio_relaxed_subqs.owl OBO:MESH_C563758 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609259 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836504 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012229 biolink:NamedThing myopia 9 phenio_relaxed_subqs.owl OBO:MESH_C563759 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609258 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836505 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012228 biolink:NamedThing myopia 8 phenio_relaxed_subqs.owl OBO:MESH_C563760 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609257 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836506 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012227 biolink:NamedThing myopia 7 phenio_relaxed_subqs.owl OBO:MESH_C563761 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609256 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836507 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012226 biolink:NamedThing febrile seizures, familial, 5 phenio_relaxed_subqs.owl DOID:0111306 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563762 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609255 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836517 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012225 biolink:NamedThing Senior-Loken syndrome 5 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene. phenio_relaxed_subqs.owl OBO:MESH_C563763 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609254 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836518 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012224 biolink:NamedThing febrile seizures, familial, 6 phenio_relaxed_subqs.owl DOID:0111309 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563764 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609253 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836521 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563765 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609250 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836522 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012222 biolink:NamedThing alpha-N-acetylgalactosaminidase deficiency type 2 Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy. phenio_relaxed_subqs.owl OBO:GARD_0009161 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609242 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79280 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836545 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019264 biolink:NamedThing alpha-N-acetylgalactosaminidase deficiency type 3 Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age. phenio_relaxed_subqs.owl ORPHA:79281 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836573 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012220 biolink:NamedThing Griscelli syndrome type 3 A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes. phenio_relaxed_subqs.owl DOID:0060834 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009715 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537303 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609227 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79478 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836602 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010023 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609220 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836621 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012214 biolink:NamedThing glucocorticoid deficiency 3 phenio_relaxed_subqs.owl OMIM:609197 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836632 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012213 biolink:NamedThing hereditary spastic paraplegia 26 A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1. phenio_relaxed_subqs.owl UMLS:C4511959 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110777 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009587 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536862 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609195 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_726607007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836669 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012211 biolink:NamedThing MPDU1-CDG The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies. phenio_relaxed_subqs.owl DOID:0080558 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009832 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535744 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126872 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609180 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724096007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79323 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836682 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009490 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537059 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609164 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836694 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563783 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012205 biolink:NamedThing autosomal dominant striatal neurodegeneration type 1 Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia. phenio_relaxed_subqs.owl MONDO:0014835 biolink:NamedThing striatal degeneration, autosomal dominant 2 Any striatal degeneration, autosomal dominant in which the cause of the disease is a mutation in the PDE10A gene. phenio_relaxed_subqs.owl OBO:OMIMPS_609161 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:228169 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836706 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012203 biolink:NamedThing familial hyperthyroidism due to mutations in TSH receptor Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history. phenio_relaxed_subqs.owl OBO:GARD_0002858 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563786 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609152 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:424 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836727 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN239463 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090111 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563789 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609136 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:163746 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836757 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012194 biolink:NamedThing aneurysm, intracranial berry, 3 phenio_relaxed_subqs.owl OBO:MESH_C563792 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609122 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836780 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563796 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609069 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:65288 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836797 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012191 biolink:NamedThing hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement. phenio_relaxed_subqs.owl DOID:0111474 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563797 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C125663 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609060 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764962002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:137681 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836823 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563798 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609057 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:300333 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836824 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204860 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060470 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012059 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609056 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722762005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:171714 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:370933 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:370938 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836860 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111097 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563801 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129027 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609054 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836861 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111091 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563802 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129026 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609053 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836876 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060852 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009420 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537185 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128145 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609049 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723449004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2670 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836898 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563806 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609047 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836899 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012181 biolink:NamedThing hereditary spastic paraplegia 27 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1. phenio_relaxed_subqs.owl DOID:0110778 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563807 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609041 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836915 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563810 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609037 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836929 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009835 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535733 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609029 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702417004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:96170 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836946 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563813 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609021 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1836994 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563814 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837008 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012169 biolink:NamedThing premature ovarian failure 3 phenio_relaxed_subqs.owl OBO:MESH_C563816 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608996 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837015 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012166 biolink:NamedThing autosomal dominant sensory ataxia 1 Any hereditary ataxia in which the cause of the disease is a mutation in the RNF170 gene. phenio_relaxed_subqs.owl DOID:0111170 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608984 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837026 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003432 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608978 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722461004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3097 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837028 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012163 biolink:NamedThing severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31. phenio_relaxed_subqs.owl DOID:0090014 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563822 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608971 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837065 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012161 biolink:NamedThing susceptibility to respiratory infections associated with CD8alpha chain mutation Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes. phenio_relaxed_subqs.owl OBO:MESH_C563824 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608957 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_766983005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:169085 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837122 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012156 biolink:NamedThing myasthenic syndrome, congenital, 1B, fast-channel A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q. phenio_relaxed_subqs.owl UMLS:C4225405 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110662 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608930 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837187 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012145 biolink:NamedThing macular degeneration, age-related, 3 Any age-related macular degeneration in which the cause of the disease is a mutation in the FBLN5 gene. phenio_relaxed_subqs.owl OBO:MESH_C563838 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608895 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837203 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012144 biolink:NamedThing Waardenburg syndrome type 2D Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SNAI2 gene. phenio_relaxed_subqs.owl DOID:0110952 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563839 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608890 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837285 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012135 biolink:NamedThing restless legs syndrome, susceptibility to, 2 phenio_relaxed_subqs.owl OBO:GARD_0009710 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608831 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837314 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010067 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537879 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608814 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837316 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010066 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537355 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608811 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:498485 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837317 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012130 biolink:NamedThing myofibrillar myopathy 2 Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene. phenio_relaxed_subqs.owl DOID:0080093 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563848 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608810 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:399058 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837329 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010065 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563852 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608809 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837342 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012127 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset. phenio_relaxed_subqs.owl DOID:0110283 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012534 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563854 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608807 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:140922 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837355 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060787 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563855 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608804 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:280282 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837371 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012382 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563856 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608800 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:168593 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837418 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536993 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608796 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837422 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563858 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608787 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837429 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012120 biolink:NamedThing pyruvate dehydrogenase phosphatase deficiency Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period. phenio_relaxed_subqs.owl OBO:GARD_0009888 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536258 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608782 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79246 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837434 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012119 biolink:NamedThing asperger syndrome, susceptibility to, 3 phenio_relaxed_subqs.owl OMIM:608781 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837454 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012116 biolink:NamedThing spinocerebellar ataxia type 8 Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients. phenio_relaxed_subqs.owl UMLS:C4275024 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050959 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004956 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608768 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715753001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98760 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837462 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536199 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608763 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837475 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4518327 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010627 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563867 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608747 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724385009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:73272 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837492 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563870 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608720 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837501 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012106 biolink:NamedThing microcephaly 5, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the ASPM gene. phenio_relaxed_subqs.owl DOID:0070280 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563871 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608716 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837518 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012103 biolink:NamedThing spinocerebellar ataxia type 25 Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy. phenio_relaxed_subqs.owl DOID:0050974 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009996 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537202 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608703 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718770005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101111 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837529 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012100 biolink:NamedThing major depressive disorder 2 phenio_relaxed_subqs.owl OBO:MESH_C563875 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608691 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837530 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012099 biolink:NamedThing AICA-ribosiduria AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness. phenio_relaxed_subqs.owl UMLS:C4510943 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563876 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608688 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_725289009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:250977 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837541 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012098 biolink:NamedThing spinocerebellar ataxia type 20 Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation. phenio_relaxed_subqs.owl DOID:0050971 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009997 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537199 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608687 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718771009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101110 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837549 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012097 biolink:NamedThing spondylocostal dysostosis 2, autosomal recessive phenio_relaxed_subqs.owl OBO:GARD_0009703 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608681 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837552 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012096 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2L Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow. phenio_relaxed_subqs.owl UMLS:C4304673 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110174 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012432 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608673 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719513008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99945 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837564 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012095 biolink:NamedThing intellectual disability-brachydactyly-Pierre Robin syndrome Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness. phenio_relaxed_subqs.owl OBO:MESH_C563880 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608670 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:364577 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837590 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN033164 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070007 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:210600 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837615 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110617 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563886 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608647 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837616 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110614 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535279 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608646 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837618 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110599 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535278 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608644 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837646 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012082 biolink:NamedThing asperger syndrome, susceptibility to, 1 phenio_relaxed_subqs.owl OMIM:608638 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837697 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012079 biolink:NamedThing asperger syndrome, susceptibility to, 2 phenio_relaxed_subqs.owl OMIM:608631 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837713 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012078 biolink:NamedThing Joubert syndrome 3 Any Joubert syndrome in which the cause of the disease is a mutation in the AHI1 gene. phenio_relaxed_subqs.owl DOID:0110998 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536295 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C148259 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608629 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837730 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563896 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608624 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837750 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563898 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608615 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:300576 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837756 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012074 biolink:NamedThing mandibuloacral dysplasia with type B lipodystrophy phenio_relaxed_subqs.owl OBO:GARD_0009989 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535706 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608612 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90154 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837805 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280797 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4304674 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110169 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009195 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012435 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608591 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614436 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719511005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:300319 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99941 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837810 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563901 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608585 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837811 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012067 biolink:NamedThing asthma-related traits, susceptibility to, 2 Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the NPSR1 gene. phenio_relaxed_subqs.owl OMIM:608584 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837819 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009470 biolink:NamedThing Baraitser-Winter syndrome 1 Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene. phenio_relaxed_subqs.owl UMLS:C1853623 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:243310 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837871 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608557 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837893 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012054 biolink:NamedThing schizophrenia 12 A schizophrenia that has material basis in a mutation on chromosome 1p36.2. phenio_relaxed_subqs.owl DOID:0070088 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608543 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837894 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012053 biolink:NamedThing aneurysm, intracranial berry, 2 phenio_relaxed_subqs.owl OBO:GARD_0010033 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536360 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608542 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837929 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012050 biolink:NamedThing major depressive disorder 1 phenio_relaxed_subqs.owl OBO:MESH_C563919 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608520 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837946 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563920 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608509 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837970 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563921 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608484 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837972 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012045 biolink:NamedThing myopia 5, autosomal dominant phenio_relaxed_subqs.owl OBO:MESH_C563922 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608474 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1837991 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010805 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563924 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C96520 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608456 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:247798 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838069 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010897 biolink:NamedThing schizophrenia 3 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD3 on chromosome 6p23. phenio_relaxed_subqs.owl DOID:0070079 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600511 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838099 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206498 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535334 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600501 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:918 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838100 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111102 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010658 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563933 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129742 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600496 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_609570008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838103 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024553 biolink:NamedThing myopathy, lactic acidosis, and sideroblastic anemia 1 Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene. phenio_relaxed_subqs.owl DOID:0111185 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600462 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838121 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010890 biolink:NamedThing acrocardiofacial syndrome Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit. phenio_relaxed_subqs.owl OBO:GARD_0001167 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563936 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600460 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838141 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563940 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600419 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838180 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111274 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001418 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536434 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126744 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600373 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717772000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1458 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838192 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010878 biolink:NamedThing hereditary spastic paraplegia 6 Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. phenio_relaxed_subqs.owl UMLS:C4518537 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110811 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004928 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536866 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600363 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_732949006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100988 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838218 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563947 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600356 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838238 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563949 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600351 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838239 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010873 biolink:NamedThing band heterotopia of brain phenio_relaxed_subqs.owl OBO:MESH_C563950 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600348 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838243 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563952 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600335 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:936 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838253 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010869 biolink:NamedThing motor neuron disease with dementia and ophthalmoplegia phenio_relaxed_subqs.owl OBO:MESH_C563954 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600333 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838256 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010867 biolink:NamedThing PARC syndrome PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. phenio_relaxed_subqs.owl OBO:GARD_0004223 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537174 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600331 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2825 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838259 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010864 biolink:NamedThing type 1 diabetes mellitus 7 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q31. phenio_relaxed_subqs.owl DOID:0110746 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563957 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600321 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838260 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110744 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563958 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600320 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838261 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010862 biolink:NamedThing type 1 diabetes mellitus 4 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 11q13. phenio_relaxed_subqs.owl DOID:0110743 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563959 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600319 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838262 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010861 biolink:NamedThing type 1 diabetes mellitus 3 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 15q26. phenio_relaxed_subqs.owl DOID:0110742 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563960 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600318 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838281 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563963 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600302 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716108004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2429 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838329 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111705 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010366 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563969 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600268 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723554006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3339 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838332 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600263 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838333 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070275 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563971 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614337 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838346 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010852 biolink:NamedThing chromosome 8Q12.1-q21.2 deletion syndrome phenio_relaxed_subqs.owl OBO:GARD_0010002 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536574 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600257 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838348 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015824 biolink:NamedThing oculomaxillofacial dysostosis Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported. phenio_relaxed_subqs.owl OBO:GARD_0004046 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537736 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010850 biolink:NamedThing Tessier number 4 facial cleft phenio_relaxed_subqs.owl OBO:SCTID_763830009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1794 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838420 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010846 biolink:NamedThing exostoses, multiple, type III phenio_relaxed_subqs.owl OBO:GARD_0002206 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563975 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600209 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838447 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010841 biolink:NamedThing Waardenburg syndrome type 2B phenio_relaxed_subqs.owl DOID:0110947 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005522 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536465 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600193 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838457 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111089 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563980 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C125705 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605724 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_766707003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:319462 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838492 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010839 biolink:NamedThing autosomal dominant congenital benign spinal muscular atrophy Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated. phenio_relaxed_subqs.owl DOID:0111215 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563981 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600175 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763067000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1216 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838577 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010829 biolink:NamedThing CARASIL syndrome CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia. phenio_relaxed_subqs.owl OBO:GARD_0010424 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563990 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600142 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_703219008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:199354 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838612 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110853 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009682 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537608 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600121 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309803 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838630 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001823 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563997 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600117 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721220004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1799 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838653 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564003 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600093 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838654 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060644 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536123 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600092 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720851007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1422 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838655 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538111 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600089 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:28455 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838656 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564004 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600084 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838657 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564005 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131074 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600081 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838782 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080583 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564012 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:598500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838854 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010799 biolink:NamedThing deafness, aminoglycoside-induced phenio_relaxed_subqs.owl DOID:0111734 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564013 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:580000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:168609 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838867 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564015 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:556500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838875 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564016 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:551200 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838876 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564017 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:551000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_766251006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:254857 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838912 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010786 biolink:NamedThing chronic diarrhea with villous atrophy Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insuficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994. phenio_relaxed_subqs.owl OBO:MESH_C564019 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:520100 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1670 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838916 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111750 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564020 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:500010 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1838979 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:252010 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839021 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564024 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:500005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839022 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010774 biolink:NamedThing striatonigral degeneration, infantile, mitochondrial phenio_relaxed_subqs.owl OBO:MESH_C564025 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:500003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839028 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003881 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564026 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:500002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2596 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839040 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111755 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008476 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536024 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:500001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839070 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564029 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:425500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839112 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564040 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:314570 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839113 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564041 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:314560 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839114 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010755 biolink:NamedThing vesicoureteral reflux, X-linked phenio_relaxed_subqs.owl OBO:MESH_C564042 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:314550 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839116 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:314380 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839162 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010576 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564051 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:314000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839235 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010068 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536947 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:313490 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839259 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010735 biolink:NamedThing Kennedy disease Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting. phenio_relaxed_subqs.owl DOID:0060161 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006818 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D055534 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C85233 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:313200 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:481 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839262 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564058 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:313000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839264 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110773 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004923 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:312920 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723622007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99015 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839333 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080467 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564064 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300672 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:505652 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839408 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564066 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:312210 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839463 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010711 biolink:NamedThing TARP syndrome A rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months. phenio_relaxed_subqs.owl DOID:0111780 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010089 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536942 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:311900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_725911008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2886 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839565 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564084 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:311100 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839566 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010699 biolink:NamedThing Charcot-Marie-Tooth disease X-linked recessive 5 X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype. phenio_relaxed_subqs.owl DOID:0110210 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000114 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:311070 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763460007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99014 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839576 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111443 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010199 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537125 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:311050 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721200000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98890 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839577 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564087 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:311000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839579 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010694 biolink:NamedThing nystagmus, myoclonic phenio_relaxed_subqs.owl OBO:GARD_0009605 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564088 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:310800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839602 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070159 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564090 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:310470 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839612 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010685 biolink:NamedThing myopia 1, X-linked phenio_relaxed_subqs.owl OBO:MESH_C564091 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:310460 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839650 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:310350 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839708 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564098 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:309840 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839780 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050879 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564105 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126566 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300623 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_448045004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93256 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839840 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111773 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564109 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614279 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_49013001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:443087 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839909 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010569 biolink:NamedThing X-linked complicated corpus callosum dysgenesis X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum. phenio_relaxed_subqs.owl OBO:GARD_0012526 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564115 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:304100 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1497 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839911 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536873 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:308750 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839927 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564118 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0022846 biolink:NamedThing congenital nonhemolytic jaundice phenio_relaxed_subqs.owl OMIM:308600 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839928 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010633 biolink:NamedThing iris hypoplasia with glaucoma phenio_relaxed_subqs.owl OBO:GARD_0009171 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535538 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:308500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839982 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564120 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:308220 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839988 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0100213 biolink:NamedThing IFAP syndrome with or without BRESHECK syndrome An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome. phenio_relaxed_subqs.owl OBO:GARD_0002952 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536085 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:308205 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2273 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1839989 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009612 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:308200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_2355008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:431 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1840073 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564125 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:147820 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1840219 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564128 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:147430 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1840253 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007817 biolink:NamedThing IgE responsiveness, atopic Immediate hypersensitivity reaction - type I reaction, involves immunoglobulin E (IgE)-mediated release of chemical mediators from mast cells and basophils. Th2 cells produce IL-4 and IL-13, which then act on B cells to promote the production of antigen-specific IgE. Reexposure to the antigen can then result in the antigen binding to and cross-linking the bound IgE antibodies on the mast cells and basophils. This causes the release of preformed mediators (histamine, tryptase, tryptase, chemotactic factors), newly synthesized mediators (leukotrienes, prostaglandin, thromboxane, platelet-activating factor, adenosine, bradykinin), and cytokines from these cells that results in structural and functional changes to the affected tissue. phenio_relaxed_subqs.owl NCIT:C3116 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:147050 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1840264 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:146850 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1840265 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3261 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564135 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567925 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126342 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:146840 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:147060 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_50926003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0003775 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2314 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1840266 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002984 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564136 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:146830 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1840296 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007808 biolink:NamedThing ichthyosis hystrix of Curth-Macklin Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK). phenio_relaxed_subqs.owl OBO:GARD_0002954 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536088 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:146590 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254170001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79503 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1840321 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564145 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:146350 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1840322 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131309 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_708672004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:247685 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1840333 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007797 biolink:NamedThing hypoparathyroidism-deafness-renal disease syndrome The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease. phenio_relaxed_subqs.owl DOID:0060878 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002911 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537907 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C130983 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:146255 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724282009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2237 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1840347 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060701 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009758 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537146 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:145981 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101049 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1840361 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564152 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:145800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1840362 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007787 biolink:NamedThing Ambras type hypertrichosis universalis congenita Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth. phenio_relaxed_subqs.owl DOID:0111060 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008206 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:145701 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1023 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1840364 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007784 biolink:NamedThing selective pituitary resistance to thyroid hormone Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema. phenio_relaxed_subqs.owl DOID:0111374 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564154 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:145650 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:165994 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1840373 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564156 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:145590 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1840385 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564157 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:145350 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1840387 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009593 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536845 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:145295 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1840388 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564159 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:145270 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1840393 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564164 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:145200 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1840402 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007767 biolink:NamedThing hyperparathyroidism 1 phenio_relaxed_subqs.owl OMIM:145000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1840425 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564170 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:144300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1840429 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564173 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:144120 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1840438 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564174 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:143850 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1840528 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110880 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564180 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C75475 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:142946 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1840529 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110875 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564181 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007819 biolink:NamedThing solitary median maxillary central incisor syndrome A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified. phenio_relaxed_subqs.owl OMIM:142945 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1840551 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564183 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:142730 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1840647 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:142309 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1841622 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564197 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:141700 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1841640 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002633 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564199 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:141350 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733046006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1241 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1841651 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564200 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614034 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:562509 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1841657 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002614 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535853 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:140450 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721013001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1342 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1841679 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060739 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002594 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535627 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:140000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702425002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2438 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1841696 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000143 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535618 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:139600 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2220 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1841809 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564209 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:139100 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1841825 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070190 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070195 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564210 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:138990 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:306400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1841835 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002559 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537293 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:138930 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723827003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2097 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1841836 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564211 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:138920 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1841972 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002499 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564221 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615962 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:786 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842009 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564229 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:137900 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842025 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002483 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564232 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:137763 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2085 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842030 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007663 biolink:NamedThing glaucoma with elevated episcleral venous pressure phenio_relaxed_subqs.owl OBO:MESH_C564235 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:137700 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842039 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:137500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842052 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008429 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537685 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:137370 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842090 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111046 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564245 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608404 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842109 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012029 biolink:NamedThing microcephaly 6, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPJ gene. phenio_relaxed_subqs.owl DOID:0070290 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564247 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608393 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842124 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012025 biolink:NamedThing branchiootic syndrome 3 Any branchiootic syndrome in which the cause of the disease is a mutation in the SIX1 gene. phenio_relaxed_subqs.owl OBO:MESH_C564248 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608389 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842160 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012018 biolink:NamedThing myopathy, myosin storage, autosomal dominant phenio_relaxed_subqs.owl OBO:MESH_C564253 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608358 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_699267007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842197 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110201 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012453 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564256 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008961 biolink:NamedThing Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities. phenio_relaxed_subqs.owl MONDO:0011898 biolink:NamedThing Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive phenio_relaxed_subqs.owl OMIM:608340 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:217055 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842237 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110199 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012439 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564257 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608323 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_765746008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100045 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842247 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564258 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608320 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842258 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608318 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842260 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608316 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842307 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010367 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564261 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608290 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719429003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:140936 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842315 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564262 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608281 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842321 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564264 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608278 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842349 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564267 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608257 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842353 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564268 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608244 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842357 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011998 biolink:NamedThing autosomal dominant slowed nerve conduction velocity Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene. phenio_relaxed_subqs.owl OBO:MESH_C564269 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608236 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764854006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:140481 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842362 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011997 biolink:NamedThing Hermansky-Pudlak syndrome 2 A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia. phenio_relaxed_subqs.owl DOID:0060540 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009435 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537709 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C150368 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608233 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:183678 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842398 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011988 biolink:NamedThing neutrophil immunodeficiency syndrome A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas. phenio_relaxed_subqs.owl OBO:MESH_C564275 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608203 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723443003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:183707 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842402 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011986 biolink:NamedThing tropical pancreatitis Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis. phenio_relaxed_subqs.owl UMLS:C4510860 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564276 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608189 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724540009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:103918 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842413 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011985 biolink:NamedThing hyper-IgM syndrome type 4 A form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation. phenio_relaxed_subqs.owl DOID:0060760 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010580 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564277 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608184 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101091 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842463 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010240 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535470 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608158 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842466 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011975 biolink:NamedThing paternal uniparental disomy of chromosome 14 phenio_relaxed_subqs.owl OBO:GARD_0005409 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536471 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608149 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:96334 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842486 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564286 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608118 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842534 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012805 biolink:NamedThing childhood onset GLUT1 deficiency syndrome 2 Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities. phenio_relaxed_subqs.owl DOID:0090045 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010541 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564288 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612126 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724072002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98811 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842577 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011963 biolink:NamedThing Joubert syndrome 2 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene. phenio_relaxed_subqs.owl DOID:0110988 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010167 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536294 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608091 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842586 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011961 biolink:NamedThing hereditary sensory and autonomic neuropathy type 1B Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR). phenio_relaxed_subqs.owl UMLS:C4303567 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070148 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564296 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608088 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717825008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:139564 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842605 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011960 biolink:NamedThing schizophrenia 11 A schizophrenia that has material basis in a mutation on chromosome 10q22.3. phenio_relaxed_subqs.owl DOID:0070087 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608078 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842642 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564299 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608036 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842679 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003557 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564303 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608028 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842704 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110960 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010675 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564306 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608013 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:85212 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842763 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004978 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564307 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:271550 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607944 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_703523004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0002326 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1855 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:50816 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842797 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011937 biolink:NamedThing peeling skin syndrome 4 Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene. phenio_relaxed_subqs.owl UMLS:C4225407 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564309 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607936 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842852 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011930 biolink:NamedThing epilepsy, familial adult myoclonic, 2 Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the ADRA2B gene. phenio_relaxed_subqs.owl DOID:0111692 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564313 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607876 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842870 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011929 biolink:NamedThing chromosome 1p36 deletion syndrome A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency. phenio_relaxed_subqs.owl DOID:0060410 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006082 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535362 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C74983 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607872 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_699306003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1606 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842922 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011924 biolink:NamedThing panic disorder 2 phenio_relaxed_subqs.owl OMIM:607853 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842930 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564320 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607847 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2688 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842937 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011921 biolink:NamedThing aural atresia, congenital phenio_relaxed_subqs.owl OBO:MESH_C564321 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607842 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842983 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011916 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2K Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy. phenio_relaxed_subqs.owl DOID:0110167 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607831 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_725047007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101097 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1842984 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020558 biolink:NamedThing autosomal dominant Charcot-Marie-Tooth disease type 2K Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy. phenio_relaxed_subqs.owl UMLS:CN207468 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009199 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C133886 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719512003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99944 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843004 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011914 biolink:NamedThing hypotrichosis-lymphedema-telangiectasia syndrome phenio_relaxed_subqs.owl DOID:0111361 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564327 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607823 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843075 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009207 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564333 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011889 biolink:NamedThing Charcot-Marie-Tooth disease type 2I Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes. phenio_relaxed_subqs.owl MONDO:0011903 biolink:NamedThing Charcot-Marie-Tooth disease type 2J Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy. phenio_relaxed_subqs.owl OMIM:607791 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_765747004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100046 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843139 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0031446 biolink:NamedThing hypercholanemia, familial 1 A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent. phenio_relaxed_subqs.owl OBO:MESH_C564336 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607748 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723360007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:238475 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843164 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011902 biolink:NamedThing Charcot-Marie-Tooth disease type 1F A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2).. phenio_relaxed_subqs.owl DOID:0110149 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009191 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537987 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607734 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719980006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101085 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843173 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011901 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement. phenio_relaxed_subqs.owl DOID:0110166 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009196 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535415 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607731 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720637005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101102 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843180 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011900 biolink:NamedThing porokeratosis 4, disseminated superficial actinic type phenio_relaxed_subqs.owl OMIM:607728 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843181 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011899 biolink:NamedThing Noonan syndrome-like disorder with loose anagen hair Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays. phenio_relaxed_subqs.owl UMLS:C3501846 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010719 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564342 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0054588 biolink:NamedThing Noonan syndrome-like disorder with loose anagen hair 2 phenio_relaxed_subqs.owl MONDO:0054637 biolink:NamedThing Noonan syndrome-like disorder with loose anagen hair 1 phenio_relaxed_subqs.owl OBO:OMIMPS_607721 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723444009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2701 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843183 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607706 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843211 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011896 biolink:NamedThing Parkinson disease 11, autosomal dominant, susceptibility to Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the GIGYF2 gene. phenio_relaxed_subqs.owl OBO:MESH_C564345 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607688 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843244 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011891 biolink:NamedThing febrile seizures, familial, 8 A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype. phenio_relaxed_subqs.owl UMLS:C1858674 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111298 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565811 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607681 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611277 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843247 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011890 biolink:NamedThing Charcot-Marie-Tooth disease type 1D A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis. phenio_relaxed_subqs.owl DOID:0110150 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009189 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537985 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607678 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719979008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101084 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843257 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564353 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607674 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843273 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009252 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C123021 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607665 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:91500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843285 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564357 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607658 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763658004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:307936 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843292 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005231 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564359 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607655 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:293165 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843315 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011879 biolink:NamedThing neuronopathy, distal hereditary motor, type 7B Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene. phenio_relaxed_subqs.owl DOID:0111202 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564362 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607641 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843355 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010583 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564365 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607626 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724278007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:59303 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843366 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011873 biolink:NamedThing Niemann-Pick disease, type C2 Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person. phenio_relaxed_subqs.owl DOID:0070114 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003992 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536119 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126865 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607625 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843463 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011870 biolink:NamedThing annular epidermolytic ichthyosis Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. phenio_relaxed_subqs.owl OBO:MESH_C564367 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607602 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718631006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:281139 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843477 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011869 biolink:NamedThing epidermolysis bullosa simplex superficialis Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or acral superficial erosions in the absence of blisters. phenio_relaxed_subqs.owl OBO:MESH_C564368 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607600 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:89839 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843492 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564370 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607597 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843569 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011862 biolink:NamedThing hereditary spastic paraplegia 24 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14. phenio_relaxed_subqs.owl DOID:0110775 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009296 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564375 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607584 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843633 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011362 biolink:NamedThing myopathy, myofibrillar, 9, with early respiratory failure phenio_relaxed_subqs.owl UMLS:C1863599 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4518808 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111188 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012591 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564377 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566343 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603689 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607569 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702373006 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733490006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:178464 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:34521 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843661 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564378 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607565 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843691 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009129 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:178148 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843757 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564382 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607540 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843758 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564383 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607539 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843761 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011852 biolink:NamedThing nonsyndromic congenital nail disorder 8 Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the COL7A1 gene. phenio_relaxed_subqs.owl DOID:0080086 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564384 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607523 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843807 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011841 biolink:NamedThing biotin-responsive basal ganglia disease phenio_relaxed_subqs.owl DOID:0050659 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010237 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537658 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607483 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_703522009 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723557004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:199348 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:65284 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843851 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226157 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111276 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009998 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016809 biolink:NamedThing spinocerebellar ataxia with epilepsy phenio_relaxed_subqs.owl OMIM:607459 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613832 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:402082 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:70595 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843852 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202060 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:254881 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843884 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011834 biolink:NamedThing spinocerebellar ataxia type 18 Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia. phenio_relaxed_subqs.owl UMLS:C4304848 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050969 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009976 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537197 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607458 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719250005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98771 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843891 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011833 biolink:NamedThing spinocerebellar ataxia type 21 Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity. phenio_relaxed_subqs.owl UMLS:C4305144 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050972 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009999 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537200 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607454 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718774001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98773 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1843920 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN229570 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050730 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010423 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564403 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011829 biolink:NamedThing coenzyme Q10 deficiency, primary, 1 Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene. phenio_relaxed_subqs.owl MONDO:0012784 biolink:NamedThing autosomal recessive ataxia due to ubiquinone deficiency This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy. phenio_relaxed_subqs.owl MONDO:0013836 biolink:NamedThing familial steroid-resistant nephrotic syndrome with sensorineural deafness phenio_relaxed_subqs.owl MONDO:0013837 biolink:NamedThing deafness-encephaloneuropathy-obesity-valvulopathy syndrome Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated. phenio_relaxed_subqs.owl MONDO:0013838 biolink:NamedThing coenzyme Q10 deficiency, primary, 3 Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene. phenio_relaxed_subqs.owl MONDO:0013840 biolink:NamedThing encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound. phenio_relaxed_subqs.owl MONDO:0014562 biolink:NamedThing neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome phenio_relaxed_subqs.owl MONDO:0014754 biolink:NamedThing primary coenzyme Q10 deficiency 8 Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ7 gene. phenio_relaxed_subqs.owl MONDO:0033615 biolink:NamedThing coenzyme q10 deficiency, primary, 9 phenio_relaxed_subqs.owl NCIT:C142083 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_607426 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724575009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:35656 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1844019 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564411 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:306960 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1844020 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010607 biolink:NamedThing heterotaxy, visceral, 1, X-linked X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis ; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia).Affected individualscan also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly, myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia. phenio_relaxed_subqs.owl OBO:GARD_0008591 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538116 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:306955 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009136 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1844137 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564415 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:306800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1844406 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008368 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537294 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:306300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1844440 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564422 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:305920 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1844579 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111413 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564428 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:305390 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1844589 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564430 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:305350 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1844654 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:304950 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1844671 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010579 biolink:NamedThing X-linked corneal dermoid X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders.No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission. phenio_relaxed_subqs.owl OBO:GARD_0002580 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535376 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:304730 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715426004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1661 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1844678 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010576 biolink:NamedThing X-linked mixed hearing loss with perilymphatic gusher X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss. phenio_relaxed_subqs.owl OBO:GARD_0001694 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004504 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:304400 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001176 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:383 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1844836 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010558 biolink:NamedThing choroideremia-deafness-obesity syndrome Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state. phenio_relaxed_subqs.owl OBO:GARD_0000369 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537793 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:303110 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717761005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1435 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1844853 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3669395 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001296 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:302950 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79345 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1844862 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010554 biolink:NamedThing Abruzzo-Erickson syndrome Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. phenio_relaxed_subqs.owl OBO:GARD_0000360 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535559 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:302905 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718574003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:921 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1844863 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564446 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:302900 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1844864 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538077 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:302803 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1844865 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010551 biolink:NamedThing Charcot-Marie-Tooth disease X-linked recessive 3 X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported. phenio_relaxed_subqs.owl DOID:0110211 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001244 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535303 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:302802 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763458005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101077 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1844873 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010550 biolink:NamedThing Charcot-Marie-Tooth disease X-linked recessive 2 X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals. phenio_relaxed_subqs.owl DOID:0110208 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001243 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535302 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:302801 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763457000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101076 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1844887 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014507 biolink:NamedThing Catel-Manzke syndrome Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. phenio_relaxed_subqs.owl OBO:GARD_0000028 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535347 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:302380 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616145 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722383001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1388 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1844918 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010539 biolink:NamedThing X-linked mandibulofacial dysostosis X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum. phenio_relaxed_subqs.owl OBO:GARD_0001002 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537102 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:301950 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719813003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1131 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1845028 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010524 biolink:NamedThing X-linked sideroblastic anemia with ataxia A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia. phenio_relaxed_subqs.owl UMLS:C4304338 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050554 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060064 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000668 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536358 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:301310 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719816006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2802 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1845051 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010522 biolink:NamedThing X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region. phenio_relaxed_subqs.owl DOID:0110059 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009944 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:301201 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1845055 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010519 biolink:NamedThing alpha thalassemia-X-linked intellectual disability syndrome X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal. phenio_relaxed_subqs.owl DOID:0110030 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005864 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538258 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C118631 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:301040 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715342005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:847 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1845069 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010390 biolink:NamedThing ocular albinism with late-onset sensorineural deafness Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome. phenio_relaxed_subqs.owl OBO:GARD_0000592 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300650 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722054007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1845076 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060706 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010916 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564469 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126295 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300635 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:538934 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1845094 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010222 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535345 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300619 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1845095 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4304400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012731 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564472 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300614 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719838008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:139583 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1845096 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010377 biolink:NamedThing myopia 13, X-linked phenio_relaxed_subqs.owl OBO:MESH_C564473 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300613 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1845105 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010373 biolink:NamedThing premature ovarian failure 2B Any primary ovarian failure in which the cause of the disease is a mutation in the POF1B gene. phenio_relaxed_subqs.owl OBO:MESH_C564476 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300604 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1845117 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009917 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536289 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300584 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1845119 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010366 biolink:NamedThing FG syndrome 5 phenio_relaxed_subqs.owl OBO:MESH_C564480 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300581 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1845146 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014196 biolink:NamedThing Hartsfield-Bixler-Demyer syndrome phenio_relaxed_subqs.owl OBO:MESH_C564484 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615465 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_766032007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2117 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1845165 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010360 biolink:NamedThing parkinson disease 12 phenio_relaxed_subqs.owl OBO:MESH_C564486 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300557 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1845167 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4305529 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564487 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300555 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717790004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93623 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1845292 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111098 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564497 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C125703 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300514 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1845293 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010350 biolink:NamedThing premature ovarian failure 2A Any primary ovarian failure in which the cause of the disease is a mutation in the DIAPH2 gene. phenio_relaxed_subqs.owl OBO:MESH_C564498 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300511 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1845294 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080494 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564499 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300510 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1845359 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010338 biolink:NamedThing X-linked distal spinal muscular atrophy type 3 X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males. phenio_relaxed_subqs.owl DOID:0111196 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564506 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300489 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_766764008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:139557 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1845567 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010316 biolink:NamedThing FG syndrome 3 phenio_relaxed_subqs.owl OBO:GARD_0009924 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300406 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1845717 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564523 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300378 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1845902 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010297 biolink:NamedThing FG syndrome 2 Any FG syndrome in which the cause of the disease is a mutation in the FLNA gene. phenio_relaxed_subqs.owl OBO:GARD_0009923 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300321 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1845903 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010296 biolink:NamedThing immunodeficiency 61 phenio_relaxed_subqs.owl OBO:GARD_0010007 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538057 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300310 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1845987 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003981 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564539 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300299 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718882006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:86788 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846006 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010293 biolink:NamedThing ectodermal dysplasia and immune deficiency phenio_relaxed_subqs.owl OBO:GARD_0009936 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536181 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012806 biolink:NamedThing ectodermal dysplasia and immunodeficiency 2 phenio_relaxed_subqs.owl MONDO:0020740 biolink:NamedThing ectodermal dysplasia and immunodeficiency 1 phenio_relaxed_subqs.owl NCIT:C118844 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_300291 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_703525006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98813 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846009 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050885 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012312 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C130988 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614732 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702384004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:85173 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846010 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564544 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300280 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846033 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564546 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300273 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846044 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010288 biolink:NamedThing adrenomyodystrophy Adrenomyodystrophy is an extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982. phenio_relaxed_subqs.owl OBO:GARD_0000562 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538051 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300270 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763311001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:977 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846046 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010287 biolink:NamedThing hereditary spastic paraplegia 16 A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2. phenio_relaxed_subqs.owl DOID:0110769 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009585 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536643 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300266 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100997 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846058 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010283 biolink:NamedThing syndromic X-linked intellectual disability Lubs type Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown. phenio_relaxed_subqs.owl DOID:0060799 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009781 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537723 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010436 biolink:NamedThing chromosome Xq28 duplication syndrome phenio_relaxed_subqs.owl NCIT:C126747 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300260 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702816000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1762 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846059 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014722 biolink:NamedThing Roifman syndrome phenio_relaxed_subqs.owl OBO:GARD_0009163 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535866 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300258 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616651 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:353298 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846142 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018045 biolink:NamedThing Hoyeraal-Hreidarsson syndrome Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia. phenio_relaxed_subqs.owl OBO:GARD_0000346 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536068 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_707276009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3322 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846147 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564557 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300233 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846164 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564559 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300228 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846168 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010327 biolink:NamedThing HSD10 mitochondrial disease HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy. phenio_relaxed_subqs.owl UMLS:CN204973 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060810 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010716 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536080 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564560 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018322 biolink:NamedThing HSD10 disease, infantile type HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. It is characterized by normal early development until 6-18 months of life, followed by progressive neurodegeneration manifesting with developmental regression, progressive visual and hearing troubles, seizures, epilepsy, severe cardiomyopathy, lethargy, hypotonia, poor feeding, choreoathetosis, and movement disorders. Elevated blood levels of isoleucine metabolites and their excretion in urine are reported. The disease is usually fatal around 2-4 years of age. phenio_relaxed_subqs.owl MONDO:0018323 biolink:NamedThing HSD10 disease, neonatal type HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life. phenio_relaxed_subqs.owl OMIM:300220 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300438 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_791000124107 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:391417 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846169 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564561 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300219 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:456328 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846173 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564565 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300211 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846175 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080342 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564567 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300209 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79022 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846273 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564574 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300158 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846278 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010258 biolink:NamedThing MEHMO syndrome MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction. phenio_relaxed_subqs.owl UMLS:C4310813 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060801 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009178 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537451 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300148 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300987 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722037004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:85282 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846284 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011826 biolink:NamedThing glucocorticoid deficiency 2 Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene. phenio_relaxed_subqs.owl NCIT:C123728 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607398 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846343 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110144 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009659 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607364 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_700111000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93605 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846357 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070117 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008744 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536132 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607361 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846418 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607339 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846421 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009711 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537880 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607330 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719257008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:46059 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846534 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011805 biolink:NamedThing asthma-related traits, susceptibility to, 1 Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the PTGDR gene. phenio_relaxed_subqs.owl OMIM:607277 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846564 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3711370 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110816 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004927 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564599 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607259 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715776003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99013 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846574 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011801 biolink:NamedThing spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia. phenio_relaxed_subqs.owl DOID:0090115 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537313 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607250 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_765091006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:94124 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846582 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564603 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607236 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:157855 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846609 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564605 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607221 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846632 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564608 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607200 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846648 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011790 biolink:NamedThing Amish lethal microcephaly Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year. phenio_relaxed_subqs.owl OBO:GARD_0008606 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538247 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607196 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702437000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99742 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846685 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011785 biolink:NamedThing hereditary spastic paraplegia 19 Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy. phenio_relaxed_subqs.owl DOID:0110772 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009588 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536856 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607152 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763375003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100999 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846689 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536992 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607151 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846719 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011780 biolink:NamedThing specific language impairment 3 phenio_relaxed_subqs.owl OMIM:607134 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846721 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564620 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607132 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846735 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011777 biolink:NamedThing Alzheimer disease 8 An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21. phenio_relaxed_subqs.owl DOID:0110041 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564622 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607116 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846758 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607107 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846823 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011771 biolink:NamedThing distal spinal muscular atrophy type 3 Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction. phenio_relaxed_subqs.owl DOID:0111211 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564626 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607088 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:139547 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846862 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060371 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607060 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846979 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011756 biolink:NamedThing Senior-Loken syndrome 4 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene. phenio_relaxed_subqs.owl OBO:MESH_C537581 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606996 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846980 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011755 biolink:NamedThing senior-loken syndrome 3 phenio_relaxed_subqs.owl OBO:MESH_C564637 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606995 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1846990 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011754 biolink:NamedThing familial hyperreninemic hypoaldosteronism type 2 phenio_relaxed_subqs.owl OBO:MESH_C564638 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606984 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99764 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847013 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2959367 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111115 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564640 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606966 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_446989009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847024 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011749 biolink:NamedThing oculocutaneous albinism type 1B Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves. phenio_relaxed_subqs.owl DOID:0070095 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000594 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537729 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606952 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79434 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847089 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110834 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564643 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606943 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847132 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018137 biolink:NamedThing temperature-sensitive oculocutaneous albinism type 1 Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas). phenio_relaxed_subqs.owl ORPHA:352737 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847185 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008554 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538148 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606895 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847196 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009227 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535722 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606894 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847197 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564648 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606893 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764100007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:140436 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847200 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011743 biolink:NamedThing Alzheimer disease 4 Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene. phenio_relaxed_subqs.owl DOID:0110040 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009469 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536596 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C123413 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606889 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847319 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080533 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010643 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564650 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C94831 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606864 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722377004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:97286 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847360 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011737 biolink:NamedThing parkinson disease 10 phenio_relaxed_subqs.owl OBO:MESH_C564653 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606852 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847361 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564654 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606851 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847387 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564655 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606842 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847493 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564658 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606787 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847501 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011724 biolink:NamedThing encephalopathy due to GLUT1 deficiency Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation. phenio_relaxed_subqs.owl UMLS:CN030711 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009265 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536830 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606777 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009139 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:71277 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847522 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011722 biolink:NamedThing intellectual disability-obesity-prognathism-eye and skin anomalies syndrome phenio_relaxed_subqs.owl OBO:MESH_C564660 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606772 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:397973 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847532 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011721 biolink:NamedThing distal myopathy with anterior tibial onset phenio_relaxed_subqs.owl DOID:0111187 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564664 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606768 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:178400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847554 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110626 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535277 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606763 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847555 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070217 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009931 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538375 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131832 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606762 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:35878 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847572 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070013 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537534 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606744 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847604 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007846 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536529 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606713 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847605 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011711 biolink:NamedThing specific language impairment 2 phenio_relaxed_subqs.owl OMIM:606712 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847614 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011710 biolink:NamedThing specific language impairment 1 phenio_relaxed_subqs.owl OMIM:606711 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847627 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0800028 biolink:NamedThing dyskinesia with orofacial involvement, autosomal dominant A rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness. phenio_relaxed_subqs.owl OBO:GARD_0012722 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564676 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606703 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763352005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:324588 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847650 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011703 biolink:NamedThing spongiform encephalopathy with neuropsychiatric features phenio_relaxed_subqs.owl OBO:MESH_C564678 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606688 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847720 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011698 biolink:NamedThing glycine N-methyltransferase deficiency Glycine N-methyltransferase deficiency (GNMT deficiency) is a very rare condition characterized by persistent and isolated excess levels of methionine in the blood (hypermethioninemia). The only clinical abnormalities are mild increase of the liver size (hepatomegaly) and chronic elevation of the transaminase levels in the blood without liver disease. Methionine may also be increased in urine. However, because elevated levels of methionine in the blood itself is a risk factor for development of neurological signs and symptoms, people with GNMT deficiency can have neurological problems when methionine levelsare greater than 800μmol/L. GNMT deficiency is caused by mutations in the GNMT gene. Inheritance is autosomal recessive. Treatment is not needed in most cases. phenio_relaxed_subqs.owl DOID:0111037 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010764 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606664 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763720007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:289891 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847722 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011697 biolink:NamedThing Waardenburg syndrome type 2C A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has material basis in variation in the chromosome region 8p23. phenio_relaxed_subqs.owl DOID:0110951 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564684 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606662 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847725 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011694 biolink:NamedThing spinocerebellar ataxia type 15/16 Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment. phenio_relaxed_subqs.owl UMLS:C4274322 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050965 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010477 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564685 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606658 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716724006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98769 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847759 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011688 biolink:NamedThing muscular dystrophy-dystroglycanopathy type B5 A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3. phenio_relaxed_subqs.owl DOID:0110635 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564691 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606612 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:52428 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847800 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008670 biolink:NamedThing Waardenburg syndrome type 1 Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum. phenio_relaxed_subqs.owl DOID:0110948 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005519 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C75008 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:193500 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:894 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847823 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011687 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2F Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop. phenio_relaxed_subqs.owl UMLS:C4304675 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110163 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009194 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535413 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606595 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719510006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99940 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847827 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060021 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564694 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C122657 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606593 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724177005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99812 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847836 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070098 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564696 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606574 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715632003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79435 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847866 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011678 biolink:NamedThing homozygous 11P15-p14 deletion syndrome phenio_relaxed_subqs.owl OBO:MESH_C564701 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606528 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847871 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009979 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536145 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606527 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847896 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011675 biolink:NamedThing Charcot-Marie-Tooth Disease, axonal, type 2GG Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards. phenio_relaxed_subqs.owl DOID:0110202 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012437 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564702 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606483 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_765744006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100043 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847967 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020506 biolink:NamedThing ovarioleukodystrophy phenio_relaxed_subqs.owl MONDO:0014387 biolink:NamedThing leukoencephalopathy, progressive, with ovarian failure phenio_relaxed_subqs.owl ORPHA:99853 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1847987 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011671 biolink:NamedThing Huntington disease-like 2 Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes characterized by a triad of movement, psychiatric, and cognitive abnormalities. phenio_relaxed_subqs.owl DOID:0090104 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564708 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606438 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721228006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98934 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848029 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008507 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536193 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606408 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:230839 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848042 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010255 biolink:NamedThing diabetes mellitus, insulin-dependent, X-linked, susceptibility to phenio_relaxed_subqs.owl OMIM:300136 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848140 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300082 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848144 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000274 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536743 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300076 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719827008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2571 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848199 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010239 biolink:NamedThing lissencephaly type 1 due to doublecortin gene mutation Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients. phenio_relaxed_subqs.owl UMLS:C4275012 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006914 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300067 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715780008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2148 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848201 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4284594 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111169 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001904 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002250 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C116933 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99796 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848296 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111777 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535601 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300018 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848387 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564729 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848392 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000310 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536729 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:280000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720639008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3474 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848407 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564730 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:278900 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848410 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110847 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005630 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536766 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C141367 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:278750 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90342 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848411 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110846 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005627 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564732 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C114771 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:278740 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_56048001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:276261 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848436 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564736 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:278100 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848470 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111606 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010024 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536699 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:277720 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848532 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564739 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:277465 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848534 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010187 biolink:NamedThing vitamin K-dependent clotting factors, combined deficiency of, type 1 Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z. phenio_relaxed_subqs.owl OBO:MESH_C564741 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:277450 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724356003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98434 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848587 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004721 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535682 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:277200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718135001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:439 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848598 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008415 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536526 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:277150 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848604 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010171 biolink:NamedThing Usher syndrome type 1C A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin on chromosome 11p15. It is inherited in an autosomal recessive manner. phenio_relaxed_subqs.owl DOID:0110830 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005437 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:276904 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848634 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110838 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005440 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536490 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:276901 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848649 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564756 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:276822 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848745 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111271 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005266 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536554 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:275400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719944006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3363 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848746 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010151 biolink:NamedThing tricarboxylic acid cycle, defect of phenio_relaxed_subqs.owl OBO:MESH_C564762 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:275370 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848756 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:275250 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848758 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564764 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:275230 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848793 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009958 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536921 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:275190 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_444755001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848805 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564766 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C121751 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718183003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:95716 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848815 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564768 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:274210 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848818 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010123 biolink:NamedThing absent thumb-short stature-immunodeficiency syndrome An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. phenio_relaxed_subqs.owl OBO:MESH_C564770 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:274190 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2951 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848909 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005118 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536945 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:272980 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2731 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848912 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005125 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536950 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:272950 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3291 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848914 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309192 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848931 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564787 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:272650 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1848963 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564792 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:272000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849096 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010060 biolink:NamedThing infantile onset spinocerebellar ataxia Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families. phenio_relaxed_subqs.owl DOID:0050556 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080126 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004062 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535523 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:271245 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724227000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1186 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849101 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014806 biolink:NamedThing spinal muscular atrophy with congenital bone fractures 1 Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the TRIP4 gene. phenio_relaxed_subqs.owl UMLS:C4225177 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004947 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564805 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:271225 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616866 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849108 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564806 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:271110 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849109 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564807 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:271109 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849113 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010049 biolink:NamedThing spastic paraplegia-glaucoma-intellectual disability syndrome Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. phenio_relaxed_subqs.owl OBO:GARD_0004931 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564809 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:270850 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2818 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849114 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564810 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:270805 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849115 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010047 biolink:NamedThing hereditary spastic paraplegia 5A Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients. phenio_relaxed_subqs.owl UMLS:C2931357 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110810 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004926 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:270800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763373005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100986 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849128 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010044 biolink:NamedThing hereditary spastic paraplegia 15 Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding. phenio_relaxed_subqs.owl DOID:0110768 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009581 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536642 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:270700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_709417000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100996 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849139 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004911 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537481 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:270600 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849157 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010609 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564816 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:270450 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715625007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:73273 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849195 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004885 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536668 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:270220 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849235 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564821 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:269870 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849259 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564824 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:269630 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849332 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000293 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535865 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:268320 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1806 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849333 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564829 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:268315 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849334 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060764 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535863 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:268310 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1507 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849348 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009998 biolink:NamedThing Richieri Costa-Pereira syndrome Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive. phenio_relaxed_subqs.owl OBO:GARD_0004718 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535677 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:268305 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723998001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3102 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849386 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009992 biolink:NamedThing myoglobinuria, acute recurrent, autosomal recessive phenio_relaxed_subqs.owl OBO:MESH_C564832 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:268200 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849397 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009988 biolink:NamedThing retinoschisis of fovea phenio_relaxed_subqs.owl OBO:GARD_0009143 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538369 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:268080 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849399 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009985 biolink:NamedThing retinohepatoendocrinologic syndrome Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family. phenio_relaxed_subqs.owl OBO:GARD_0004685 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564839 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:268040 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724000006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3087 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849405 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564842 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:268010 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849416 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564847 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:267740 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849439 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564853 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:266810 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849450 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010566 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564854 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:266400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849451 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009757 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535515 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:266350 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849453 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050774 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004637 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535288 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:266280 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702413000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3021 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849471 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564857 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:266250 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849507 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009946 biolink:NamedThing hemolytic anemia due to pyrimidine 5' nucleotidase deficiency Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported. phenio_relaxed_subqs.owl OBO:MESH_C564859 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:266120 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:35120 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849508 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009945 biolink:NamedThing pyridoxine-dependent epilepsy A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6). phenio_relaxed_subqs.owl UMLS:CN203406 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009298 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536254 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015005 biolink:NamedThing epilepsy, early-onset, vitamin B6-dependent phenio_relaxed_subqs.owl MONDO:0020741 biolink:NamedThing pyridoxine-dependent epilepsy caused by ALDH7A1 mutant phenio_relaxed_subqs.owl OBO:SCTID_734434007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849524 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:265850 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849554 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009933 biolink:NamedThing congenital pulmonary lymphangiectasia Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation. phenio_relaxed_subqs.owl OBO:GARD_0009900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537727 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C99034 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:265300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_45142002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2414 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849566 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564863 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:265200 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849648 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564864 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:264500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849649 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009921 biolink:NamedThing holoprosencephaly-postaxial polydactyly syndrome Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13. phenio_relaxed_subqs.owl OBO:GARD_0000344 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535829 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C125418 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:264480 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716091000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2166 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849678 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009919 biolink:NamedThing peroxisomal acyl-CoA oxidase deficiency Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy. phenio_relaxed_subqs.owl DOID:0050797 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004543 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536662 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:264470 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238069004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2971 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849696 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009915 biolink:NamedThing 46,XX disorder of sex development-skeletal anomalies syndrome phenio_relaxed_subqs.owl OBO:MESH_C564869 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:264270 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2975 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849698 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564870 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:264120 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849699 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564871 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:264080 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849718 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004436 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564874 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:263650 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722376008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1234 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849720 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564876 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:263610 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849731 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535524 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:263550 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849762 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009890 biolink:NamedThing Gillessen-Kaesbach-Nishimura syndrome phenio_relaxed_subqs.owl OBO:MESH_C564881 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:263210 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849771 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564882 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:263100 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849773 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010318 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564883 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:262900 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849774 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564884 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:262875 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849778 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564885 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:262800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849779 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009879 biolink:NamedThing short stature due to growth hormone qualitative anomaly Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive. phenio_relaxed_subqs.owl OBO:GARD_0000408 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537505 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:262650 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:629 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849805 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000277 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535763 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:262020 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2892 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849811 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009871 biolink:NamedThing pili torti-developmental delay-neurological abnormalities syndrome Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents. phenio_relaxed_subqs.owl OBO:GARD_0004362 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537398 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:261990 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2891 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849813 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090101 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010728 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564888 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:261740 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:439854 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849821 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004279 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564890 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:261650 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79317 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1849930 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009857 biolink:NamedThing persistent Mullerian duct syndrome Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. phenio_relaxed_subqs.owl DOID:0050791 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008435 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536665 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C120188 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:261550 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702358005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2856 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012361 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564893 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:261500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_711160007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850022 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564894 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:260970 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850039 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564895 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:260900 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850052 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004267 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538352 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:260650 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2837 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850053 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060790 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004266 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536319 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:260600 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:280293 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850054 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564899 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:260570 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850055 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009841 biolink:NamedThing PEHO syndrome PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies. phenio_relaxed_subqs.owl DOID:0080539 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004264 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536317 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:260565 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2836 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850075 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202825 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536299 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:260555 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2829 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850079 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002598 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564905 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126559 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:260530 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2812 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850080 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564906 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:260480 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850100 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060372 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009175 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538104 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008193 biolink:NamedThing paralysis agitans, juvenile, of Hunt phenio_relaxed_subqs.owl OMIM:260300 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:171695 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850102 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004198 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538102 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:260150 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850103 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538094 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:260130 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850141 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564916 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:259660 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850142 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564917 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:259650 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850168 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001029 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:259450 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850184 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537558 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:259410 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2772 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850185 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008662 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564922 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:259270 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850268 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009792 biolink:NamedThing ichthyosis-oral and digital anomalies syndrome Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive. phenio_relaxed_subqs.owl OBO:GARD_0002960 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536272 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:258840 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2272 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850302 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564925 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:258470 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850314 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564927 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:258400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850316 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010161 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537752 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:258360 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2739 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850317 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009780 biolink:NamedThing lethal omphalocele-cleft palate syndrome Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition. phenio_relaxed_subqs.owl OBO:GARD_0004079 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537747 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:258320 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719408007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2736 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850319 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564930 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:258300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850331 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004050 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537739 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:257970 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2715 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850332 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564934 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:257960 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722062004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2718 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850338 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009769 biolink:NamedThing oculo-palato-cerebral syndrome Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. phenio_relaxed_subqs.owl OBO:MESH_C564935 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:257910 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722055008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2714 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850341 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564937 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:257600 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850343 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003007 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536987 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009759 biolink:NamedThing mosaic variegated aneuploidy syndrome 1 Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene. phenio_relaxed_subqs.owl MONDO:0013582 biolink:NamedThing mosaic variegated aneuploidy syndrome 2 Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene. phenio_relaxed_subqs.owl MONDO:0054736 biolink:NamedThing mosaic variegated aneuploidy syndrome 3 phenio_relaxed_subqs.owl NCIT:C128192 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_257300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_700056005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1052 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850380 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009755 biolink:NamedThing neutrophil actin dysfunction Solitary or multiple, slightly raised, pigmented lesions with irregular borders, usually measuring more than 0.6cm in greatest dimension. Morphologically, there is melanocytic atypia and the differential diagnosis from melanoma may be difficult. Patients are at an increased risk for the development of melanoma. phenio_relaxed_subqs.owl OBO:MESH_C564942 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3694 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:257150 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:625 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850381 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009754 biolink:NamedThing neutropenia, lethal congenital, with eosinophilia phenio_relaxed_subqs.owl OBO:GARD_0006107 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564943 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:257100 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850383 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564945 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:256870 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850384 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070160 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564946 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:256860 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850385 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564947 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:256855 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850386 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009749 biolink:NamedThing giant axonal neuropathy 1 Giant axonal neuropathy (GAN) is a degenerative disorder that is characterised by a progressive motor and sensitive peripheral and central nervous system neuropathy. phenio_relaxed_subqs.owl DOID:0090068 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006500 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:256850 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:643 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850395 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009748 biolink:NamedThing hereditary sensory and autonomic neuropathy with spastic paraplegia This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia. phenio_relaxed_subqs.owl UMLS:C4303565 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564948 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:256840 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717827000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:139578 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850465 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564954 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:256720 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850553 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009729 biolink:NamedThing nephropathy - deafness - hyperparathyroidism syndrome Nephropathy-deafness-hyperparathyroidism syndrome is characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive. phenio_relaxed_subqs.owl OBO:GARD_0003940 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536401 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:256120 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724093004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2668 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850554 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009727 biolink:NamedThing atelosteogenesis type II Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene. phenio_relaxed_subqs.owl UMLS:C1850555 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008329 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535395 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:256050 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254055004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:56304 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850569 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009725 biolink:NamedThing nemaline myopathy 2 An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness. phenio_relaxed_subqs.owl UMLS:CN187052 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110928 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538349 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C118784 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:256030 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850625 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009722 biolink:NamedThing Bailey-Bloch congenital myopathy Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia. phenio_relaxed_subqs.owl DOID:0060346 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008432 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538343 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:255995 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723439002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:168572 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850627 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009720 biolink:NamedThing Keipert syndrome A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis. phenio_relaxed_subqs.owl OBO:GARD_0000267 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538337 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:255980 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:301026 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763774001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2662 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850674 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010316 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C150608 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:255320 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98905 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850709 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009708 biolink:NamedThing myopathy, myosin storage, autosomal recessive phenio_relaxed_subqs.owl DOID:0111268 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564970 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:255160 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850717 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564971 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:255140 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850744 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564973 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:254960 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850745 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564974 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:254950 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850746 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009700 biolink:NamedThing Carey-Fineman-Ziter syndrome Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay. phenio_relaxed_subqs.owl DOID:0080194 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003889 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536102 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:254940 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_429753001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1358 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850806 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564979 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:254190 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850807 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564980 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:254150 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850827 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564982 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:254120 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850902 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564989 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:137210 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850934 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564991 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:137050 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850982 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564999 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:136600 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1850987 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:136540 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851009 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565008 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:136400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851055 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:136200 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851099 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565011 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:135800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851111 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537929 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005352 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84714 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:135580 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000938 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:336 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851184 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565017 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:134900 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851316 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014225 biolink:NamedThing hemochromatosis type 5 Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene. phenio_relaxed_subqs.owl UMLS:CN181217 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN237708 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111031 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565020 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615517 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:247790 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:447792 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851347 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565021 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:134610 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851374 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565022 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:134540 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851375 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565023 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:134520 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851376 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565024 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:134510 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851377 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565025 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:134430 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851378 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007594 biolink:NamedThing factor 5 excess with spontaneous thrombosis phenio_relaxed_subqs.owl OBO:MESH_C565026 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:134400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851399 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007592 biolink:NamedThing familial recurrent peripheral facial palsy phenio_relaxed_subqs.owl OBO:MESH_C565028 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:134200 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2809 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851402 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007589 biolink:NamedThing exudative vitreoretinopathy 1 phenio_relaxed_subqs.owl DOID:0111412 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536382 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:133780 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851413 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007586 biolink:NamedThing exostoses, multiple, type 2 This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes. phenio_relaxed_subqs.owl OBO:GARD_0002205 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C18252 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:133701 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851428 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565034 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:133690 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1962 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851443 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565035 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616570 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851463 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565036 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:133500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851481 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007574 biolink:NamedThing spinocerebellar ataxia type 34 Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. phenio_relaxed_subqs.owl DOID:0050981 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000059 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535738 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:133190 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719255000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1955 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851503 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009259 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535510 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:132990 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851570 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565049 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:131880 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851573 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007548 biolink:NamedThing transient bullous dermolysis of the newborn Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. phenio_relaxed_subqs.owl DOID:0111345 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010010 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536979 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:131705 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79411 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851586 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:131430 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851718 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565057 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:130700 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851801 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020522 biolink:NamedThing Ehlers-Danlos syndrome type 7B phenio_relaxed_subqs.owl UMLS:CN706304 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565061 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99876 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851847 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565063 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:129840 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851848 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN229012 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565064 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:129830 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1889 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851849 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565065 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:129810 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1888 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851850 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538015 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:129550 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3391 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851851 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565067 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:129540 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851858 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002055 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565068 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:129510 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_734018003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1818 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851920 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016812 biolink:NamedThing dopa-responsive dystonia Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency. phenio_relaxed_subqs.owl OBO:GARD_0009817 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538007 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007495 biolink:NamedThing dystonia 5 Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age. phenio_relaxed_subqs.owl NCIT:C116719 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_230332007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:255 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851955 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010059 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538000 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:128000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851986 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007482 biolink:NamedThing dyschondrosteosis-nephritis syndrome Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis. phenio_relaxed_subqs.owl OBO:GARD_0001994 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565080 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:127350 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1765 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1851994 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006294 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565081 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:127100 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852008 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565086 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:126850 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852009 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009743 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535721 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:126840 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852062 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565092 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:126320 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1683 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852063 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565093 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:126250 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852087 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565099 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:125890 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852092 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110741 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565100 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:125852 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852093 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111099 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003418 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565101 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129744 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:125850 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_609562003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852127 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013034 biolink:NamedThing keratosis palmoplantaris striata 2 Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the DSP gene. phenio_relaxed_subqs.owl OBO:MESH_C565102 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612908 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852144 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4303591 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001816 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565103 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:125640 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721091003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1660 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852160 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565109 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:125540 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565112 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:125460 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852201 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001808 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538213 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:125440 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99792 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852222 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111341 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565114 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:125350 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:412206 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852223 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565115 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:125320 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852250 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010069 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538211 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:125300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852267 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4275164 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111340 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005243 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007429 biolink:NamedThing optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy phenio_relaxed_subqs.owl MONDO:0011038 biolink:NamedThing cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements. phenio_relaxed_subqs.owl MONDO:0024569 biolink:NamedThing optic atrophy 8 phenio_relaxed_subqs.owl OBO:SCTID_715374003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1215 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852279 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565119 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:125050 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852280 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565120 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:124950 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852283 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565122 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:124700 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852406 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050660 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000332 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565129 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C123813 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:123790 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_703528008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1555 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852455 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565140 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:123557 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852457 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565142 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:123540 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852501 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007398 biolink:NamedThing craniorhiny phenio_relaxed_subqs.owl OBO:MESH_C565144 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:123050 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:157832 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852512 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565147 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:122850 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1339 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852529 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090030 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013101 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611489 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:199247 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852541 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007384 biolink:NamedThing congenital trigeminal anesthesia Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum). phenio_relaxed_subqs.owl OBO:GARD_0010034 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536440 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:122450 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763218005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:231013 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852556 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565157 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:121450 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852558 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009507 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535471 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:121390 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852576 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001522 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535468 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:121270 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763531001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1551 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852577 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007367 biolink:NamedThing febrile seizures, familial, 1 phenio_relaxed_subqs.owl DOID:0111307 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565162 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:121210 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_230432008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852700 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060002 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:120790 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:459353 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852718 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007360 biolink:NamedThing branchiootic syndrome 2 phenio_relaxed_subqs.owl OBO:MESH_C565171 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:120502 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852721 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565172 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:120440 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1852759 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090006 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004106 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537168 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C123230 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:120330 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_446449009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1475 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853099 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080507 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610759 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565184 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C173104 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610758 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853102 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565185 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610756 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853115 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610744 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853120 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060582 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010699 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C548082 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610733 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853124 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080382 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610725 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853137 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050689 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565193 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610713 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93409 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853139 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111438 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010201 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537126 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610708 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853144 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012541 biolink:NamedThing deafness with labyrinthine aplasia, microtia, and microdontia Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome. phenio_relaxed_subqs.owl OBO:GARD_0010707 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565195 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610706 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702360007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90024 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853147 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012540 biolink:NamedThing age related macular degeneration 4 Any age-related macular degeneration in which the cause of the disease is a mutation in the CFH gene. phenio_relaxed_subqs.owl DOID:0110017 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565196 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610698 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853153 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012539 biolink:NamedThing Joubert syndrome 6 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM67 gene. phenio_relaxed_subqs.owl DOID:0111001 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537689 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610688 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853154 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012538 biolink:NamedThing nemaline myopathy 7 Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene. phenio_relaxed_subqs.owl DOID:0110934 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565198 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610687 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853156 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012537 biolink:NamedThing split-hand/foot malformation with long bone deficiency 2 phenio_relaxed_subqs.owl OBO:MESH_C565199 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610685 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853187 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010055 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538328 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610680 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853196 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012469 biolink:NamedThing myopia 14 phenio_relaxed_subqs.owl OBO:MESH_C565202 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610320 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853197 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009968 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537610 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610319 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853198 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012467 biolink:NamedThing cold-induced sweating syndrome 2 Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the CLCF1 gene. phenio_relaxed_subqs.owl DOID:0080330 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564791 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610313 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853205 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4510605 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009965 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610293 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724344004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:83639 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853228 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012457 biolink:NamedThing pyloric stenosis, infantile hypertrophic, 2 phenio_relaxed_subqs.owl OBO:MESH_C565208 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610260 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853247 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012453 biolink:NamedThing hereditary spastic paraplegia 31 A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense. phenio_relaxed_subqs.owl DOID:0110782 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010817 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565210 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610250 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763068005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101011 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853249 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012450 biolink:NamedThing spinocerebellar ataxia type 28 Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration. phenio_relaxed_subqs.owl UMLS:C4274988 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050977 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009951 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537205 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610246 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715824008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101109 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853250 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012449 biolink:NamedThing spinocerebellar ataxia type 23 Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia. phenio_relaxed_subqs.owl UMLS:C4305146 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050973 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009950 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537201 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610245 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718772002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101108 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853251 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012448 biolink:NamedThing hereditary spastic paraplegia 33 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ZFYVE27 gene. phenio_relaxed_subqs.owl DOID:0110784 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565214 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610244 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853278 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060692 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012478 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565220 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609821 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_725291001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:36355 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853293 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565222 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609817 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853294 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012351 biolink:NamedThing zygodactyly type 1 phenio_relaxed_subqs.owl OBO:MESH_C565223 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609815 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:295187 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853296 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012349 biolink:NamedThing spondylocostal dysostosis 3, autosomal recessive Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the LFNG gene. phenio_relaxed_subqs.owl OBO:GARD_0004973 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609813 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853298 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565226 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609808 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853354 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012345 biolink:NamedThing acral peeling skin syndrome Acral peeling skin syndrome (PSS) is a form of PSS characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet. phenio_relaxed_subqs.owl OBO:GARD_0012863 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536316 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609796 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_709416009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:263534 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853360 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012344 biolink:NamedThing Alzheimer disease 11 An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1. phenio_relaxed_subqs.owl DOID:0110044 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565228 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609790 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853371 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111104 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010660 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565231 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129745 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606394 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_609573005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853396 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004485 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536416 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606353 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717964007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:247604 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853444 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011659 biolink:NamedThing heterotaxy, visceral, 3, autosomal phenio_relaxed_subqs.owl OBO:MESH_C565237 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606325 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853445 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060370 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565238 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606324 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853473 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011656 biolink:NamedThing paget disease of bone 4 phenio_relaxed_subqs.owl OBO:MESH_C565240 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606263 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853480 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565246 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606242 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853488 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011653 biolink:NamedThing thyroid cancer, nonmedullary, 3 phenio_relaxed_subqs.owl OMIM:606240 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853490 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011652 biolink:NamedThing Phelan-McDermid syndrome Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. phenio_relaxed_subqs.owl DOID:0080354 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010130 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536801 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606232 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_699310000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:48652 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853507 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565248 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606220 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853555 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011647 biolink:NamedThing Alzheimer disease 7 An Alzheimer's disease that is characterized by an associated with variation in the region 10p13. phenio_relaxed_subqs.owl DOID:0110039 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565251 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606187 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853556 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565252 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606183 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853564 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4303593 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020569 biolink:NamedThing intermediate DEND syndrome Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome, a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy. phenio_relaxed_subqs.owl NCIT:C131845 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721088003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79134 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853576 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225411 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606164 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853577 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008311 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C543241 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300829 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606163 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853578 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011638 biolink:NamedThing neuroferritinopathy Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits. phenio_relaxed_subqs.owl DOID:0110737 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010686 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C548080 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606159 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_699299001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:157846 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853616 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008451 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537579 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606156 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853666 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008283 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536130 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606129 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853686 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565260 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606082 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853733 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011631 biolink:NamedThing hemochromatosis type 4 Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin. phenio_relaxed_subqs.owl DOID:0111028 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010094 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537249 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606069 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719975002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:139491 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853736 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011629 biolink:NamedThing MOGS-CDG MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1). phenio_relaxed_subqs.owl DOID:0070254 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010767 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565264 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606056 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_725028009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79330 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853757 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010194 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535656 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606049 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853761 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018996 biolink:NamedThing spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. phenio_relaxed_subqs.owl UMLS:CN205441 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050755 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012860 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537308 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606002 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_725408001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:64753 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853825 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565271 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605946 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717221005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:85188 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853826 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010078 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536217 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605945 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853827 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565272 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605944 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853829 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565273 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605935 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853830 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110874 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565274 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605934 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853892 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565278 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605850 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719449007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:243343 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853899 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011609 biolink:NamedThing atopic dermatitis 6 An atopic dermatitis associated with variation in the region 5q31-q33. phenio_relaxed_subqs.owl DOID:0110102 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565279 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605845 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853900 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011608 biolink:NamedThing atopic dermatitis 5 An atopic dermatitis associated with variation in the region 13q12-q14. phenio_relaxed_subqs.owl DOID:0110101 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565280 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605844 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853911 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011606 biolink:NamedThing baby rattle pelvis dysplasia phenio_relaxed_subqs.owl OBO:GARD_0009289 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537794 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565282 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605838 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853942 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011601 biolink:NamedThing neonatal intrahepatic cholestasis due to citrin deficiency Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia. phenio_relaxed_subqs.owl UMLS:C4274030 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010214 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536398 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605814 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717155003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:247598 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853949 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011600 biolink:NamedThing congenital myasthenic syndrome 4A A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. phenio_relaxed_subqs.owl DOID:0110678 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605809 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853963 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011598 biolink:NamedThing atopic dermatitis 4 An atopic dermatitis associated with variation in the region 17q25.3. phenio_relaxed_subqs.owl DOID:0110100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565291 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605805 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853964 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011597 biolink:NamedThing atopic dermatitis 3 An atopic dermatitis associated with variation in the region 20p. phenio_relaxed_subqs.owl DOID:0110099 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565292 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605804 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1853965 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011596 biolink:NamedThing atopic dermatitis 2 Any atopic eczema in which the cause of the disease is a mutation in the FLG gene. phenio_relaxed_subqs.owl DOID:0110098 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565293 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605803 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854002 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011592 biolink:NamedThing exudative vitreoretinopathy 3 phenio_relaxed_subqs.owl DOID:0111409 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565297 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605750 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854022 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565302 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605727 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854061 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008999 biolink:NamedThing Cohen syndrome Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity. phenio_relaxed_subqs.owl DOID:0111590 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006126 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536438 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:216550 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_56604005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:193 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854063 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090128 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005595 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535581 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014355 biolink:NamedThing cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis phenio_relaxed_subqs.owl OMIM:605676 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719835006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:65282 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854064 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011580 biolink:NamedThing cerebellar ataxia and hypergonadotropic hypogonadism phenio_relaxed_subqs.owl OBO:MESH_C565308 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605672 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854104 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011578 biolink:NamedThing familial papillary thyroid carcinoma with renal papillary neoplasia Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC). phenio_relaxed_subqs.owl OBO:MESH_C565310 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605642 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717734005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:97290 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854107 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011576 biolink:NamedThing familial hyperaldosteronism type II Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism. phenio_relaxed_subqs.owl UMLS:C3839212 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002789 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565312 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C127162 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605635 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_703233008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:404 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854119 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565314 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605618 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854125 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011572 biolink:NamedThing type 1 diabetes mellitus 18 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 5q31.1-q33.1. phenio_relaxed_subqs.owl DOID:0110755 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565315 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605598 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854146 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011571 biolink:NamedThing deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 phenio_relaxed_subqs.owl OBO:MESH_C565316 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605594 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854150 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011570 biolink:NamedThing Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry. phenio_relaxed_subqs.owl DOID:0110179 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001249 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537991 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605589 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719981005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101101 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854154 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011569 biolink:NamedThing Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy. phenio_relaxed_subqs.owl DOID:0110156 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008548 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537990 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605588 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_725048002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98856 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854182 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011562 biolink:NamedThing autosomal dominant Parkinson disease 4 A late onset Parkinson disease that has material basis in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22. phenio_relaxed_subqs.owl DOID:0060895 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565324 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605543 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854244 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011557 biolink:NamedThing radiation sensitivity/chromosome instability syndrome, autosomal dominant phenio_relaxed_subqs.owl OBO:MESH_C565326 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605463 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854306 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565331 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854336 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010545 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605373 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854369 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011540 biolink:NamedThing spinocerebellar ataxia type 14 Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus. phenio_relaxed_subqs.owl UMLS:C4304883 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050964 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009867 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537196 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605361 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719210007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98763 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854380 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011539 biolink:NamedThing nemaline myopathy 5 Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community. phenio_relaxed_subqs.owl DOID:0110936 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008334 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538397 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605355 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98902 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854405 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565340 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605321 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854416 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060867 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565342 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605309 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:210548 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854430 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111440 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565343 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605293 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854449 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011534 biolink:NamedThing Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies. phenio_relaxed_subqs.owl DOID:0110196 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010132 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535813 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605285 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715799004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99953 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854466 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050814 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009679 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536958 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605282 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:363417 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854467 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011532 biolink:NamedThing hereditary spastic paraplegia 13 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene. phenio_relaxed_subqs.owl DOID:0110766 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009616 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537485 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605280 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100994 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854469 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060580 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010698 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C548081 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605275 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854488 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011529 biolink:NamedThing spinocerebellar ataxia type 13 Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia. phenio_relaxed_subqs.owl UMLS:C4304884 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050963 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009611 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537195 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605259 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719209002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98768 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854568 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011522 biolink:NamedThing hereditary spastic paraplegia 14 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28. phenio_relaxed_subqs.owl DOID:0110767 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009589 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537486 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605229 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100995 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854631 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011517 biolink:NamedThing pseudohyperaldosteronism type 2 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery. phenio_relaxed_subqs.owl OBO:MESH_C565359 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605115 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_766937004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:88660 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854646 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565361 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:253590 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854678 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003834 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C101038 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:253290 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_60192008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:33108 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854729 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565366 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:253240 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854896 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565367 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129978 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:252605 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:423470 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854961 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009648 biolink:NamedThing peripheral motor neuropathy-dysautonomia syndrome Peripheral motor neuropathy-dysautonomia syndrome is characterised by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive. phenio_relaxed_subqs.owl OBO:MESH_C536988 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:252320 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854978 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009646 biolink:NamedThing Monosomy 7 myelodysplasia and leukemia syndrome 1 phenio_relaxed_subqs.owl OBO:MESH_C565370 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:252270 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854988 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009643 biolink:NamedThing sulfite oxidase deficiency due to molybdenum cofactor deficiency type A phenio_relaxed_subqs.owl DOID:0111164 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565372 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:252150 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:308386 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854989 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009644 biolink:NamedThing sulfite oxidase deficiency due to molybdenum cofactor deficiency type B phenio_relaxed_subqs.owl DOID:0111163 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565373 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:252160 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:308393 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1854990 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014212 biolink:NamedThing sulfite oxidase deficiency due to molybdenum cofactor deficiency type C A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23. phenio_relaxed_subqs.owl DOID:0111166 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565374 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615501 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:308400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855034 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565376 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:251945 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855055 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009625 biolink:NamedThing diencephalic-mesencephalic junction dysplasia syndrome 1 phenio_relaxed_subqs.owl OBO:GARD_0008510 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537546 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:251280 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855079 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565382 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:251230 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:572768 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855080 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009618 biolink:NamedThing microcephaly-cardiomyopathy syndrome A syndrome characterised by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive. phenio_relaxed_subqs.owl OBO:GARD_0003609 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536711 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:251220 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719380003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2515 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855081 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009617 biolink:NamedThing microcephaly 1, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene. phenio_relaxed_subqs.owl DOID:0070285 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565384 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:251200 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:52183 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855089 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009616 biolink:NamedThing microcephalic primordial dwarfism, Toriello type Microcephalic primordial dwarfism, Toriello type is characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive. phenio_relaxed_subqs.owl OBO:GARD_0003602 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537321 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:251190 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715482004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2643 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565386 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:251120 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_765137006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:308425 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855102 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009614 biolink:NamedThing vitamin B12-responsive methylmalonic acidemia type cblB An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial. phenio_relaxed_subqs.owl DOID:0060743 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009479 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C142172 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:251110 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79311 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855114 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060740 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003586 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017360 biolink:NamedThing vitamin B12-unresponsive methylmalonic acidemia type mut0 Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. phenio_relaxed_subqs.owl MONDO:0019267 biolink:NamedThing vitamin B12-unresponsive methylmalonic acidemia type mut- Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. phenio_relaxed_subqs.owl NCIT:C148366 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:251000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:27 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855164 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000217 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535875 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:250500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855174 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565395 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:250450 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855195 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565399 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:250300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855282 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565405 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:249660 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855309 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565408 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:249240 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855346 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009568 biolink:NamedThing mast syndrome Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging. phenio_relaxed_subqs.owl DOID:0060245 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565409 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:248900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764734003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855432 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565420 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:248400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855453 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565421 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:248350 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855467 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009547 biolink:NamedThing macrosomia-microphthalmia-cleft palate syndrome Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989. phenio_relaxed_subqs.owl OBO:GARD_0000177 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537830 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:248110 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2432 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855468 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565425 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:248100 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855470 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565427 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:247800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855473 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565430 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:247630 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855477 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000237 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535769 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:247410 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721083007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1563 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855498 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111422 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010244 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535904 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126558 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:246650 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:535453 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855499 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009526 biolink:NamedThing fibular aplasia, tibial campomelia, and oligosyndactyly syndrome phenio_relaxed_subqs.owl UMLS:CN776928 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002622 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:246570 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:480773 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855502 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009523 biolink:NamedThing Lichtenstein syndrome Lichstenstein syndrome is characterised by frequent infections associated with osteoporosis, a tendency for fractures and osseous anomalies. It has been described in two monozygotic twin brothers. Transmission is autosomal recessive. phenio_relaxed_subqs.owl OBO:GARD_0003248 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535894 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:246550 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763668009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2390 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855505 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565441 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:246470 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855548 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4510411 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537871 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:245590 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724179008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:220465 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855550 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008470 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537549 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:245552 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855552 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565446 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:245450 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855553 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009503 biolink:NamedThing pyruvate dehydrogenase E3-binding protein deficiency Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction. phenio_relaxed_subqs.owl OMIM:245349 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:255182 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855565 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009502 biolink:NamedThing pyruvate dehydrogenase E2 deficiency Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood. phenio_relaxed_subqs.owl OBO:MESH_C565448 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:245348 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79244 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855588 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:245300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855606 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010512 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:245160 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855626 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008774 biolink:NamedThing 2-aminoadipic 2-oxoadipic aciduria phenio_relaxed_subqs.owl DOID:0111453 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565453 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:204750 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:245130 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79154 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855627 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000044 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537627 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:245010 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719973009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2342 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855645 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003091 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:244600 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855647 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565456 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:244510 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855648 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008367 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537021 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C130992 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:244460 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93324 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855681 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205459 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111112 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537699 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C74998 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:256100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_444830001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93592 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855721 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009471 biolink:NamedThing intrinsic factor and r binder, combined congenital deficiency of phenio_relaxed_subqs.owl OBO:MESH_C565461 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:243320 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855733 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:8000011 biolink:NamedThing visceral neuropathy, familial, 1, autosomal recessive A form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction. phenio_relaxed_subqs.owl OBO:GARD_0003969 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537394 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:243180 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99811 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855735 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:243110 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855737 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565465 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:243080 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855738 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565466 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:243050 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855739 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009459 biolink:NamedThing channelopathy-associated congenital insensitivity to pain, autosomal recessive A syndrome characterized by indifference to pain despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and intellectual disability may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343) phenio_relaxed_subqs.owl OBO:GARD_0012267 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:243000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:88642 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855762 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565468 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:242870 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855771 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565469 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:242850 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855772 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060356 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000448 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535566 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C138174 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:242840 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719824001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1493 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855786 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565471 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:242550 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855787 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009446 biolink:NamedThing ichthyosis-intellectual disability-dwarfism-renal impairment syndrome Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. phenio_relaxed_subqs.owl OBO:GARD_0004641 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536274 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:242530 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2278 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855788 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000292 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537364 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:242510 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2269 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855796 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009434 biolink:NamedThing hypoproteinemia, hypercatabolic phenio_relaxed_subqs.owl OBO:MESH_C565476 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:241600 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565477 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:241540 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855809 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565478 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:241519 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855840 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060348 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000411 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537157 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C133727 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:241410 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2323 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855856 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565481 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:241120 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855858 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565482 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:241000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855884 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565489 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:240000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855885 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565490 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:239900 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855902 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009405 biolink:NamedThing cervical hypertrichosis-peripheral neuropathy syndrome Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993. phenio_relaxed_subqs.owl UMLS:C2931676 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001226 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565492 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:239840 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2218 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855903 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002848 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538386 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:239711 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855922 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565494 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:239350 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855923 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016596 biolink:NamedThing hyperphosphatasia-intellectual disability syndrome phenio_relaxed_subqs.owl MONDO:0009398 biolink:NamedThing hyperphosphatasia with intellectual disability syndrome 1 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGV gene. phenio_relaxed_subqs.owl MONDO:0013628 biolink:NamedThing hyperphosphatasia with intellectual disability syndrome 3 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene. phenio_relaxed_subqs.owl MONDO:0013882 biolink:NamedThing hyperphosphatasia with intellectual disability syndrome 2 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGO gene. phenio_relaxed_subqs.owl MONDO:0014318 biolink:NamedThing hyperphosphatasia with intellectual disability syndrome 4 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP3 gene. phenio_relaxed_subqs.owl MONDO:0014457 biolink:NamedThing hyperphosphatasia with intellectual disability syndrome 5 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGW gene. phenio_relaxed_subqs.owl MONDO:0014780 biolink:NamedThing hyperphosphatasia with intellectual disability syndrome 6 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGY gene. phenio_relaxed_subqs.owl OBO:OMIMPS_239300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_33982008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:247262 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855924 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565496 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:239199 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855926 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565498 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:238800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855927 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565499 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:238710 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855986 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009373 biolink:NamedThing seizures-intellectual disability due to hydroxylysinuria syndrome Seizures-intellectual disability due to hydroxylysinuria syndrome is characterised by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient. phenio_relaxed_subqs.owl OBO:MESH_C565502 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:236900 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79156 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1855995 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009370 biolink:NamedThing L-2-hydroxyglutaric aciduria L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy. phenio_relaxed_subqs.owl UMLS:C3888081 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050574 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010472 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:236792 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237961001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79314 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856016 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009365 biolink:NamedThing hydrolethalus syndrome 1 Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene. phenio_relaxed_subqs.owl DOID:0111355 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565504 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:236680 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856053 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080327 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565507 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:236500 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:500135 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856054 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009956 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536074 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:236450 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856057 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009354 biolink:NamedThing methylcobalamin deficiency type cblE An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia. phenio_relaxed_subqs.owl DOID:0050732 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002732 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565510 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C142173 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:236270 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005568 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2169 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856095 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060566 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002728 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535327 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:236110 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2167 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856111 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002696 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538120 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565517 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:235750 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856113 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009341 biolink:NamedThing Mowat-Wilson syndrome Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations. phenio_relaxed_subqs.owl DOID:0060485 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009673 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536990 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016855 biolink:NamedThing Mowat-Wilson syndrome due to monosomy 2q22 phenio_relaxed_subqs.owl MONDO:0016856 biolink:NamedThing Mowat-Wilson syndrome due to a ZEB2 point mutation phenio_relaxed_subqs.owl NCIT:C74999 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:235730 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_703535000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2152 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856127 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009339 biolink:NamedThing congenital bile acid synthesis defect 2 Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins. phenio_relaxed_subqs.owl DOID:0111069 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010045 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535443 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:235555 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79303 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856128 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009338 biolink:NamedThing hepatic veno-occlusive disease-immunodeficiency syndrome Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease. phenio_relaxed_subqs.owl OBO:GARD_0010083 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537257 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:235550 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724361001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79124 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856159 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009333 biolink:NamedThing mullerian derivatives-lymphangiectasia-polydactyly syndrome Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterised by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure. phenio_relaxed_subqs.owl OBO:GARD_0005430 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536478 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:235255 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1655 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856244 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565530 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:233800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856245 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070191 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565531 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:233710 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856251 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070192 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565532 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:233700 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856255 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070193 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565533 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:233690 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856261 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565534 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:233670 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856263 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565535 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:233600 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856272 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009302 biolink:NamedThing XY type gonadal dysgenesis-associated anomalies syndrome Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive. phenio_relaxed_subqs.owl OBO:GARD_0002541 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565536 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:233430 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1770 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856274 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002537 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537284 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:233270 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856303 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:308655 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856304 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:308670 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856305 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:308698 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856399 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565545 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:231900 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:289849 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856466 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009270 biolink:NamedThing genito-palato-cardiac syndrome Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. phenio_relaxed_subqs.owl OBO:GARD_0002460 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537683 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:231060 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2075 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856476 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931585 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002445 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012504 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565553 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:231005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2072 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856686 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565558 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:229500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856688 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538061 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:229310 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856689 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565561 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:229300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856708 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200837 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565562 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:229230 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2051 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856716 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009239 biolink:NamedThing hypogonadotropic hypogonadism 24 without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene. phenio_relaxed_subqs.owl DOID:0090088 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010128 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537070 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:229070 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_758664007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:52901 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856728 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009232 biolink:NamedThing Fuhrmann syndrome Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly. phenio_relaxed_subqs.owl DOID:0090067 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002410 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538189 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:228930 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721296004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2854 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856738 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050790 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009879 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537931 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:228900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715474004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2639 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856761 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010528 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565567 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:228560 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2025 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856788 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565569 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:228400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856893 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565580 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:227250 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856896 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002216 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536383 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:227210 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3172 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856897 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013914 biolink:NamedThing hypogonadotropic hypogonadism 12 with or without anosmia A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21. phenio_relaxed_subqs.owl DOID:0090072 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000276 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535764 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:227200 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614841 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856902 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565584 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:226985 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856918 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565585 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:226950 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856931 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565587 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:226800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856934 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060733 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009694 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535377 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:226730 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79403 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856969 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000299 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535492 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:226440 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:231556 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856970 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565591 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:226110 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856971 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565592 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:226100 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856973 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009167 biolink:NamedThing Bonnemann-Meinecke-Reich syndrome Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991. phenio_relaxed_subqs.owl OBO:GARD_0002113 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565594 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:225755 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733049004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1261 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856990 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565596 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:225740 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1856991 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565597 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:225700 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857040 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002068 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565601 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:225290 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1892 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857053 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565605 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:225040 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1812 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857068 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009723 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535757 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565606 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:224800 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1883 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857069 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111647 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565607 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:224750 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_700062000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:50944 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857089 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565608 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:224550 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857143 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565610 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:224250 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857144 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070015 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565611 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:224230 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_707272006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857153 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009475 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535728 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:224000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857196 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010606 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565614 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:223550 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857197 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003293 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565615 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:223500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857225 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565617 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:223350 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857228 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565620 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:223320 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857229 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565621 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:223300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857242 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110852 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009429 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537607 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:222765 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309796 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857252 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010327 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565624 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616034 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:431361 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857253 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060650 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001855 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536171 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:222730 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716747007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2195 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857276 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111414 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005258 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013818 biolink:NamedThing trichohepatoenteric syndrome 2 Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the SKIV2L gene. phenio_relaxed_subqs.owl MONDO:0024541 biolink:NamedThing trichohepatoenteric syndrome 1 Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the TTC37 gene. phenio_relaxed_subqs.owl OBO:OMIMPS_222470 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_703406006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:84064 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857277 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090144 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001899 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536390 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:222448 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702418009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2143 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857285 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565630 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:222350 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857298 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000136 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538269 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:221950 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857301 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001814 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535373 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:221810 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721090002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1657 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857314 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001813 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538220 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:221790 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733044009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1659 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857316 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090112 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009921 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020749 biolink:NamedThing polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 phenio_relaxed_subqs.owl MONDO:0020750 biolink:NamedThing polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 phenio_relaxed_subqs.owl OBO:OMIMPS_221770 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702347001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2770 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857334 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565639 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:221700 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857337 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565640 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:221500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857338 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009086 biolink:NamedThing deafness-small bowel diverticulosis-neuropathy syndrome Deafness-small bowel diverticulosis-neuropathy syndrome is characterised by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis). phenio_relaxed_subqs.owl OBO:GARD_0002568 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537305 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:221400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733071009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3217 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857339 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009085 biolink:NamedThing deafness-vitiligo-achalasia syndrome Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. phenio_relaxed_subqs.owl OBO:GARD_0001705 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565642 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:221350 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3239 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857340 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000305 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535993 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:221320 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763213001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3236 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857341 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009083 biolink:NamedThing conductive deafness-malformed external ear syndrome phenio_relaxed_subqs.owl OBO:GARD_0001460 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565644 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:221300 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3216 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857343 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009081 biolink:NamedThing deafness, congenital, with total albinism phenio_relaxed_subqs.owl OBO:MESH_C565646 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:220900 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857348 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565649 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:220300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857351 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009075 biolink:NamedThing Dandy-Walker malformation-postaxial polydactyly syndrome Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals. phenio_relaxed_subqs.owl OBO:GARD_0001669 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535771 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:220220 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733094005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1566 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857389 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93613 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857438 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565659 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:219550 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857443 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565660 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:219400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857444 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:219300 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1557 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857451 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020735 biolink:NamedThing ACTH-independent macronodular adrenal hyperplasia 1 phenio_relaxed_subqs.owl DOID:0111623 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:219080 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857472 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009041 biolink:NamedThing craniosynostosis-intellectual disability-clefting syndrome A recessive syndrome characterized by craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose. phenio_relaxed_subqs.owl UMLS:C2931663 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000817 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001599 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537906 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565663 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:218650 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857473 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010282 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565664 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:218649 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857493 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565666 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:218530 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857512 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009033 biolink:NamedThing temtamy syndrome Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. phenio_relaxed_subqs.owl DOID:0111621 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005688 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536959 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C148371 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:218340 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719947004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1777 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857530 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565672 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:218200 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857531 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565673 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:218100 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857532 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009028 biolink:NamedThing Crane-Heise syndrome Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. phenio_relaxed_subqs.owl OBO:GARD_0008428 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536452 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:218090 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715991005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1512 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857575 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565678 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:217200 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857617 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014353 biolink:NamedThing immunodeficiency 23 phenio_relaxed_subqs.owl UMLS:C4014371 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004331 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565684 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:216920 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615816 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:443811 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857619 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009001 biolink:NamedThing macular coloboma-cleft palate-hallux valgus syndrome Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive. phenio_relaxed_subqs.owl OBO:MESH_C565686 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:216800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722463001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:91494 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857662 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008996 biolink:NamedThing COACH syndrome 1 A very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF). phenio_relaxed_subqs.owl DOID:0111589 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001410 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536430 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:216360 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1454 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857663 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060589 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000331 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536719 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:216340 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3472 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857682 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012534 biolink:NamedThing combined oxidative phosphorylation defect type 4 Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy. phenio_relaxed_subqs.owl DOID:0111494 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565690 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610678 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_766876004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:254925 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857719 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010241 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536355 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610629 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857749 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012443 biolink:NamedThing aneurysm, intracranial berry, 4 phenio_relaxed_subqs.owl OBO:MESH_C565700 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610213 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857761 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610205 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261629 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857775 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060638 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565705 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610199 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79118 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857776 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012435 biolink:NamedThing 3-methylglutaconic aciduria type 5 A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria. phenio_relaxed_subqs.owl UMLS:C4039473 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010344 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012964 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565706 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610198 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_711412004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:66634 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857779 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012433 biolink:NamedThing Senior-Loken syndrome 6 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene. phenio_relaxed_subqs.owl OBO:MESH_C565708 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610189 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857780 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012432 biolink:NamedThing Joubert syndrome 5 Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene. phenio_relaxed_subqs.owl DOID:0111000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537688 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610188 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857795 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565711 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610170 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857798 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060007 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565712 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610163 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857802 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012423 biolink:NamedThing MORM syndrome MORM syndrome is characterised by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34. phenio_relaxed_subqs.owl OBO:GARD_0010121 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536984 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610156 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715628009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:75858 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857808 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012422 biolink:NamedThing type 1 diabetes mellitus 19 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q24.3. phenio_relaxed_subqs.owl DOID:0110756 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565715 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610155 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857813 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012419 biolink:NamedThing age related macular degeneration 7 Any age-related macular degeneration in which the cause of the disease is a mutation in the HTRA1 gene. phenio_relaxed_subqs.owl DOID:0110019 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565718 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610149 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857830 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010052 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535947 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610136 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857844 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4512054 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012076 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565723 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016832 biolink:NamedThing distal 7q11.23 microduplication syndrome Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported. phenio_relaxed_subqs.owl OMIM:609757 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_726707004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:96121 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857852 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012337 biolink:NamedThing glaucoma 1, open angle, I phenio_relaxed_subqs.owl OBO:MESH_C565724 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609745 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857855 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012334 biolink:NamedThing hereditary spastic paraplegia 29 Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia. phenio_relaxed_subqs.owl DOID:0110780 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009729 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536863 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609727 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733029008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857933 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011513 biolink:NamedThing Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology phenio_relaxed_subqs.owl OBO:MESH_C565728 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605055 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857941 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050693 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010179 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007565 biolink:NamedThing familial cylindromatosis phenio_relaxed_subqs.owl OMIM:605041 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_703531009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79493 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857942 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565729 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605040 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857958 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565730 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605026 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857970 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111061 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565732 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605019 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1857977 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011504 biolink:NamedThing NDE1-related microhydranencephaly NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae. phenio_relaxed_subqs.owl OBO:GARD_0010216 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537555 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605013 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:443162 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858028 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110630 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565733 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604928 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858032 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010290 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565734 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604922 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:166277 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858050 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011498 biolink:NamedThing schizophrenia 9 A schizophrenia that has material basis in a mutation of DISC1 on chromosome 1q42.2. phenio_relaxed_subqs.owl DOID:0070085 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604906 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858051 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565737 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604901 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_699189004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:168583 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858054 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110128 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010205 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565738 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605231 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858079 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565740 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604864 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254064009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93279 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858083 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565742 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604855 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858084 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005020 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537493 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C74985 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604841 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90654 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858101 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565744 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604830 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858106 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011489 biolink:NamedThing hereditary spastic paraplegia 12 Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus. phenio_relaxed_subqs.owl DOID:0110765 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009586 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537484 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604805 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763374004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100993 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858108 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011488 biolink:NamedThing microcephaly 3, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene. phenio_relaxed_subqs.owl DOID:0070286 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565746 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604804 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858114 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011487 biolink:NamedThing Huntington disease-like 3 Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy. phenio_relaxed_subqs.owl OBO:MESH_C565747 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604802 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:157946 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858143 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008571 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536324 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604771 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858182 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565755 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604690 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858210 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012583 biolink:NamedThing tooth agenesis, selective, 5 phenio_relaxed_subqs.owl OBO:MESH_C565757 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610926 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858266 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011476 biolink:NamedThing MHC class I deficiency Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections. phenio_relaxed_subqs.owl DOID:0060009 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008427 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604571 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_725136003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:34592 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858278 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011475 biolink:NamedThing Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported. phenio_relaxed_subqs.owl DOID:0110190 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535421 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604563 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715800000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99956 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858302 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009705 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536183 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604536 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716699004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:158668 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858308 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011470 biolink:NamedThing hyperlipidemia, combined, 2 phenio_relaxed_subqs.owl OBO:MESH_C565766 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604499 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858351 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011464 biolink:NamedThing spinocerebellar ataxia type 11 Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs. phenio_relaxed_subqs.owl UMLS:C4304886 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050961 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010475 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565772 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604432 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719207000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98767 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858353 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011463 biolink:NamedThing polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination. phenio_relaxed_subqs.owl OBO:MESH_C565773 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604431 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:538096 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858361 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080519 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009176 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536253 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C119055 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604416 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724015007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:69126 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858380 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070276 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565777 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614385 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858392 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111114 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565780 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604387 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858419 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565781 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604382 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858422 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565783 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604380 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858478 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565786 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604363 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858493 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011443 biolink:NamedThing febrile seizures, familial, 4 Any febrile seizures, familial in which the cause of the disease is a mutation in the ADGRV1 gene. phenio_relaxed_subqs.owl DOID:0111305 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565788 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604352 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858501 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011439 biolink:NamedThing spinocerebellar ataxia type 12 Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported. phenio_relaxed_subqs.owl UMLS:C4304885 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050962 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010476 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565790 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C154316 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604326 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719208005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98762 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858516 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011437 biolink:NamedThing microcephaly 4, primary, autosomal recessive phenio_relaxed_subqs.owl DOID:0070291 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565792 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604321 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858517 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011436 biolink:NamedThing autosomal recessive distal spinal muscular atrophy 1 Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features. phenio_relaxed_subqs.owl DOID:0111064 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008592 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536880 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604320 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_711483003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98920 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858535 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011435 biolink:NamedThing microcephaly 2, primary, autosomal recessive, with or without cortical malformations phenio_relaxed_subqs.owl DOID:0070293 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565794 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604317 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858537 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565796 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604315 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858556 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008489 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536030 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604308 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99715 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858592 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011424 biolink:NamedThing Carney triad Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas. phenio_relaxed_subqs.owl OBO:GARD_0010924 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565803 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C94833 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604287 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733492003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:139411 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858661 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008413 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537964 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604257 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858664 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011417 biolink:NamedThing hemochromatosis type 3 Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin. phenio_relaxed_subqs.owl DOID:0111030 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010093 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537248 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604250 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719974003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:225123 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858673 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011461 biolink:NamedThing generalized epilepsy with febrile seizures plus, type 2 Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene. phenio_relaxed_subqs.owl DOID:0111294 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565810 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604403 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858695 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011411 biolink:NamedThing Chudley-McCullough syndrome phenio_relaxed_subqs.owl OBO:GARD_0000086 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535459 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604213 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314597 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858696 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565817 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604211 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858712 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011408 biolink:NamedThing hereditary spastic paraplegia 10 Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case. phenio_relaxed_subqs.owl UMLS:C4518536 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110763 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009590 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537482 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604187 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_732948003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100991 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858717 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011407 biolink:NamedThing facial paresis, hereditary congenital, 2 phenio_relaxed_subqs.owl OMIM:604185 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858725 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011403 biolink:NamedThing left ventricular noncompaction 1 Any left ventricular noncompaction in which the cause of the disease is a mutation in the DTNA gene. phenio_relaxed_subqs.owl OMIM:604169 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858726 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565822 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604168 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702433001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:48431 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858751 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011401 biolink:NamedThing Alzheimer disease without neurofibrillary tangles phenio_relaxed_subqs.owl UMLS:C1970143 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110048 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007190 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536599 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566998 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604154 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611155 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858805 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011396 biolink:NamedThing loricrin keratoderma A diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission. phenio_relaxed_subqs.owl OBO:MESH_C565826 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604117 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717183001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79395 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858990 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011381 biolink:NamedThing dominant beta-thalassemia Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia. phenio_relaxed_subqs.owl UMLS:C4274391 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565834 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603902 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716682000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:231226 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1858991 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199219 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060868 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000231 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015519 biolink:NamedThing congenital or early infantile CACH syndrome phenio_relaxed_subqs.owl MONDO:0015520 biolink:NamedThing late infantile CACH syndrome phenio_relaxed_subqs.owl MONDO:0015521 biolink:NamedThing juvenile or adult CACH syndrome phenio_relaxed_subqs.owl MONDO:0020507 biolink:NamedThing Cree leukoencephalopathy phenio_relaxed_subqs.owl NCIT:C122664 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603896 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_447351004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:135 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859062 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931401 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110646 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003286 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565840 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C137959 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603830 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859080 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010623 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565843 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:216330 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859082 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008991 biolink:NamedThing Verloove Vanhorick-Brubakk syndrome Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981. phenio_relaxed_subqs.owl OBO:GARD_0005482 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536541 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:215850 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764697003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3429 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859084 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009949 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536207 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:215720 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859089 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565847 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:215550 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859093 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008980 biolink:NamedThing ataxia-hypogonadism-choroidal dystrophy syndrome Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome. phenio_relaxed_subqs.owl DOID:0111265 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000944 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565850 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:215470 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715984007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1180 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859101 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4153 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C5156 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000543 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859104 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565852 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:215250 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859133 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110851 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006049 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:215100 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309789 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859147 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008971 biolink:NamedThing chondrodysplasia calcificans Metaphysealis phenio_relaxed_subqs.owl OBO:GARD_0010613 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565855 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:215050 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859161 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565856 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:214980 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859194 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008962 biolink:NamedThing Griscelli syndrome type 1 A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2. phenio_relaxed_subqs.owl DOID:0060832 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002566 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537301 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:214450 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79476 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859198 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110185 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001252 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535419 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:214400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715796006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99948 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859257 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565863 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:213950 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859259 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003812 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537370 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:213820 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859283 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565864 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:213500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859301 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280644 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060797 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001195 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535353 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:213002 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614381 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:85186 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859303 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565868 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:212890 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859304 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565869 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:212850 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859305 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008935 biolink:NamedThing cerebellar ataxia-hypogonadism syndrome Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome. phenio_relaxed_subqs.owl DOID:0111587 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003314 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565870 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:212840 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1173 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859306 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001189 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535350 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:212835 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715371006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1174 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859307 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565872 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:212800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859308 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:212790 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859315 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008924 biolink:NamedThing congenital cataract-ichthyosis syndrome Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive. phenio_relaxed_subqs.owl OBO:GARD_0001145 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538281 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:212400 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1376 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859316 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111245 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001139 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535336 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:212360 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1366 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859317 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008922 biolink:NamedThing Sengers syndrome Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. phenio_relaxed_subqs.owl DOID:0080132 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001142 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538280 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:212350 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717812000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1369 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859318 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006616 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536100 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:212160 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859327 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002613 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535850 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:212135 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721009008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1354 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859328 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565881 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:212130 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859329 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008519 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535577 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:212100 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859330 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080633 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565882 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:212093 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859331 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565883 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:212090 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859332 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565884 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:212080 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859354 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001071 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537977 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:211990 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859355 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010134 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537976 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:211965 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859359 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008898 biolink:NamedThing camptodactyly syndrome, Guadalajara type 1 Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. phenio_relaxed_subqs.owl OBO:GARD_0001067 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537970 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:211910 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720602007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1327 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859371 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008896 biolink:NamedThing campomelia, Cumming type Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. phenio_relaxed_subqs.owl OBO:GARD_0001061 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537966 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:211890 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720599002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1318 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859385 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000992 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565893 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:211370 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722061006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2713 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859393 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565894 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:211369 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859404 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538164 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:211200 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1271 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859405 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050684 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005950 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537081 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:211180 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_711153001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1270 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859406 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000939 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536577 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:211170 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859439 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008873 biolink:NamedThing microcephalic osteodysplastic primordial dwarfism, type 3 phenio_relaxed_subqs.owl OBO:MESH_C537320 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:210730 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859468 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008870 biolink:NamedThing bird headed-dwarfism, Montreal type Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970. phenio_relaxed_subqs.owl OBO:GARD_0000895 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535448 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:210700 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2617 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859518 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565904 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:210100 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859519 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008552 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565905 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:210050 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859564 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110125 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000822 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537911 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600151 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859565 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110129 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010206 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565916 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615984 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009026 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859566 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110130 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010207 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565917 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615985 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859567 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110131 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010208 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565918 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615986 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009027 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859568 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110132 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010209 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565919 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615987 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009022 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859569 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110133 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010210 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565920 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615988 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859570 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110134 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010211 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565921 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615989 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009023 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859594 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565926 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:209100 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859595 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565927 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:209050 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859615 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565930 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:208910 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859645 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565932 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:208750 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859646 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565933 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:208700 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859647 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565934 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:208600 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859648 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111579 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:208550 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859723 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565940 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:208081 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859724 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809877 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010087 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013316 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535385 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:208080 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615547 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:398069 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859725 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565941 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:208060 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859726 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050645 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000774 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_Q87.82 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565942 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:208050 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_458432002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3342 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859761 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565947 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:207300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859783 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008587 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536367 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:206570 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859815 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000657 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565958 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:204850 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859816 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565959 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:204800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859818 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000763 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565960 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:204730 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859966 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009558 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013139 biolink:NamedThing neutropenia, severe congenital, 2, autosomal dominant Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene. phenio_relaxed_subqs.owl MONDO:0042490 biolink:NamedThing neutropenia, severe congenital, 1, autosomal dominant phenio_relaxed_subqs.owl ORPHA:486 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859967 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008741 biolink:NamedThing PAGOD syndrome PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies. phenio_relaxed_subqs.owl OBO:GARD_0003086 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537018 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:202660 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722132007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:991 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859971 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008735 biolink:NamedThing adrenocortical unresponsiveness to ACTH with postreceptor defect phenio_relaxed_subqs.owl OBO:MESH_C565971 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:202355 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859972 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:202300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859974 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024536 biolink:NamedThing glucocorticoid deficiency 1 Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene. phenio_relaxed_subqs.owl DOID:0080621 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:202200 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859977 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:202155 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1859978 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565976 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:202150 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:95700 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860167 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000469 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538170 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:200970 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722280000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2561 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860168 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008704 biolink:NamedThing short-limb skeletal dysplasia with severe combined immunodeficiency Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. phenio_relaxed_subqs.owl OBO:GARD_0000463 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002988 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565984 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:200900 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:935 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860212 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050796 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000456 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536010 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:200450 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718573009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:929 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860215 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000453 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536000 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:200170 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90301 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860224 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008693 biolink:NamedThing ablepharon macrostomia syndrome Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome. phenio_relaxed_subqs.owl DOID:0060550 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000003 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535557 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:200110 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718575002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:920 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860229 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016676 biolink:NamedThing recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported. phenio_relaxed_subqs.owl ORPHA:251523 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860231 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565989 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:194400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860463 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566002 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:192900 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860464 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002276 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005487 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536344 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:192800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724064004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2064 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860465 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566004 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:192700 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860518 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111567 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001217 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002558 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010535 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566007 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:192315 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720854004 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721141004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:247691 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860519 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006941 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566008 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:192310 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860551 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008634 biolink:NamedThing urticaria, familial localized heat phenio_relaxed_subqs.owl OBO:MESH_C566011 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:191950 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860586 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566012 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:191550 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860596 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005421 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536472 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:191520 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719041000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3408 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860604 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566014 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:191500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860605 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000938 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536576 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:191482 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719910004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1264 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860646 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566019 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:191200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_55647004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860658 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:191181 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860807 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566028 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:190500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860808 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050884 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005287 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566029 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131652 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615512 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234405009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:868 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860820 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008602 biolink:NamedThing triglyceride storage disease, type 2 phenio_relaxed_subqs.owl OBO:MESH_C566030 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:190430 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860821 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008601 biolink:NamedThing triglyceride storage disease, type 1 phenio_relaxed_subqs.owl OBO:MESH_C566031 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:190420 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860822 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008598 biolink:NamedThing trichodysplasia-xeroderma syndrome Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987. phenio_relaxed_subqs.owl OBO:GARD_0005261 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566032 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:190360 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3361 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860823 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008597 biolink:NamedThing trichorhinophalangeal syndrome, type III A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature. phenio_relaxed_subqs.owl DOID:0080376 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007802 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:190351 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860849 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566034 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:190345 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860850 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008594 biolink:NamedThing familial multiple discoid fibromas A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominently located on the face, ears, neck and trunk, not associated with systemic organ involvement, associated malignancies or FLCN gene locus mutation. phenio_relaxed_subqs.owl OBO:GARD_0008479 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536847 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:190340 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:538756 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860861 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008590 biolink:NamedThing tremor, hereditary essential, 1 Any essential tremor in which the cause of the disease is a mutation in the DRD3 gene. phenio_relaxed_subqs.owl DOID:0111428 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005244 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536545 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:190300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860872 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566038 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:190200 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860896 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070273 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566039 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614331 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1860991 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060581 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009885 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537847 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609942 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861044 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566043 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:189700 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861097 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566045 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:188800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861099 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020306 biolink:NamedThing absent tibia-polydactyly syndrome Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones. phenio_relaxed_subqs.owl OBO:GARD_0008309 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535564 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:988 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861101 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008499 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536916 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:188560 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861171 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008560 biolink:NamedThing thrombophilia due to activated protein C resistance A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance. phenio_relaxed_subqs.owl OBO:MESH_D020016 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:188055 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_421527008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861195 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060691 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566061 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:187800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861204 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566063 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:187750 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861232 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008545 biolink:NamedThing thalassemia, beta+, silent allele phenio_relaxed_subqs.owl OBO:MESH_C566065 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:187550 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861234 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010107 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536501 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:187501 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861274 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566076 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:187000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861283 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:186890 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861302 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566085 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:186600 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861304 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007720 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566087 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:186575 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861305 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050789 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009225 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:186570 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702312009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0008965 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1412 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861347 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005090 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566091 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:186350 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3259 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861380 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4275033 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005081 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017543 biolink:NamedThing zygodactyly type 2 phenio_relaxed_subqs.owl MONDO:0017544 biolink:NamedThing zygodactyly type 3 phenio_relaxed_subqs.owl MONDO:0017545 biolink:NamedThing zygodactyly type 4 phenio_relaxed_subqs.owl OMIM:185900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715723008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93402 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861385 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050788 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008182 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536223 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014125 biolink:NamedThing symphalangism, proximal, 1B Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene. phenio_relaxed_subqs.owl MONDO:0020733 biolink:NamedThing proximal symphalangism 1A phenio_relaxed_subqs.owl OBO:OMIMPS_185800 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3250 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861404 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566100 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:185650 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861418 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566101 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:185600 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861437 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008502 biolink:NamedThing sulfhemoglobinemia, congenital phenio_relaxed_subqs.owl OBO:MESH_C566102 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:185460 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861447 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566104 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:185200 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861449 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:185100 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861452 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005035 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566109 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:185069 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861457 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013110 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:438266 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861513 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007344 biolink:NamedThing cluster headache, familial An instance of cluster headache syndrome that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl OBO:MESH_C566117 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:119915 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861536 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080344 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002071 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536188 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0023704 biolink:NamedThing Martinez Monasterio Pinheiro syndrome A form of blepharo-cheilo-dontic syndrome with with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. This is an n-of-1 use case where only one patient or family has been described with this disorder. phenio_relaxed_subqs.owl MONDO:0040503 biolink:NamedThing blepharocheilodontic syndrome 2 Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene. phenio_relaxed_subqs.owl MONDO:0054740 biolink:NamedThing blepharocheilodontic syndrome 1 Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CDH1 gene. phenio_relaxed_subqs.owl OBO:OMIMPS_119580 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717911008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1997 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861558 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566124 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:118865 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861560 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007327 biolink:NamedThing chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase phenio_relaxed_subqs.owl DOID:0111419 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566126 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:118830 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861569 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007325 biolink:NamedThing choreoathetosis, familial inverted phenio_relaxed_subqs.owl OBO:MESH_C566127 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:118750 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861580 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007320 biolink:NamedThing chondrocalcinosis due to apatite crystal deposition phenio_relaxed_subqs.owl OBO:GARD_0010139 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535939 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:118610 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861668 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538079 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:118301 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861673 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566137 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:118230 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861693 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566140 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:118005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861695 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566142 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:117850 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861732 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007298 biolink:NamedThing spinocerebellar ataxia type 29 Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. phenio_relaxed_subqs.owl UMLS:C4274987 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050978 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010480 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537206 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:117360 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715825009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:208513 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861735 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007297 biolink:NamedThing ADan amyloidosis A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2. phenio_relaxed_subqs.owl DOID:0070030 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009169 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538209 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:117300 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:97346 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861736 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007296 biolink:NamedThing spinocerebellar ataxia type 31 Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. phenio_relaxed_subqs.owl UMLS:C4274986 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050980 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009975 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566146 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:117210 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715826005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:217012 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861753 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:178145 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861783 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9892 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012308 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_447.4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566151 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:116870 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_9250002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861847 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:115400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861848 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010546 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:115310 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861897 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566175 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:114700 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861898 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566176 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:114650 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861899 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:114600 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861915 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566179 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:114450 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861922 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007251 biolink:NamedThing campomelic dysplasia Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations). phenio_relaxed_subqs.owl UMLS:C1861923 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050463 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010027 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D055036 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84609 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:114290 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_74928006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:140 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861964 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007248 biolink:NamedThing hereditary painful callosities Hereditary painful callosities is a nummular palmoplantar keratoderma characterized by the development of painful keratotic lesions over pressure points in hands and feet. A few families have been described. Transmission is autosomal dominant. Successful analgesia can be obtained with tretinoin. phenio_relaxed_subqs.owl OBO:MESH_C566180 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:114140 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79141 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861967 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009598 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536276 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:114100 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1861974 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566182 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:114065 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1862071 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566188 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:113610 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1862084 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000988 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537096 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:113470 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1862092 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004869 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537338 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:113450 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_732956000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3168 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1862171 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566206 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:112370 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1862177 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007205 biolink:NamedThing diaphyseal medullary stenosis-bone malignancy syndrome Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma). phenio_relaxed_subqs.owl OBO:GARD_0010072 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C122660 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:112250 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:85182 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1862178 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060438 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001425 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535963 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007204 biolink:NamedThing Cole-Carpenter syndrome 1 Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene. phenio_relaxed_subqs.owl MONDO:0014573 biolink:NamedThing Cole-Carpenter syndrome 2 Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene. phenio_relaxed_subqs.owl NCIT:C130985 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_112240 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2050 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1862275 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566223 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:110000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1862289 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:109660 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1862299 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007188 biolink:NamedThing primary basilar invagination Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction. phenio_relaxed_subqs.owl OBO:GARD_0001037 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566226 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:109500 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2285 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1862358 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566233 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:109160 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1862372 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007181 biolink:NamedThing axial osteomalacia phenio_relaxed_subqs.owl DOID:0080039 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008431 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537791 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:109130 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1862373 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566234 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:109120 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1831 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1862380 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009218 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566235 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:109050 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1219 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1862440 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007166 biolink:NamedThing ataxia with fasciculations phenio_relaxed_subqs.owl OBO:MESH_C566246 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:108700 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1862458 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566248 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:108450 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1862510 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566253 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:108050 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1862681 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566271 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:107550 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1862842 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000711 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536379 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:106990 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2355 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1862843 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000708 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566277 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:106900 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1862844 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566278 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:106750 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:69125 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1862867 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566280 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:106230 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1862892 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015054 biolink:NamedThing hereditary angioedema type 2 Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. phenio_relaxed_subqs.owl ORPHA:100051 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1862932 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007111 biolink:NamedThing aneurysm, intracranial berry type 1 phenio_relaxed_subqs.owl OBO:MESH_C566284 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:105800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1862935 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566287 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:105565 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1862936 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009822 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538254 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:105563 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1862937 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007105 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene. phenio_relaxed_subqs.owl UMLS:C3888102 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060213 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:105550 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1862956 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566292 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:105300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863006 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000647 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538245 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:104570 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715404000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1028 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863012 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007093 biolink:NamedThing hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene. phenio_relaxed_subqs.owl DOID:0110053 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566293 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:104510 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100034 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863014 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566294 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:104400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863015 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566295 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:104350 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863051 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007089 biolink:NamedThing Alzheimer disease 2 An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele. phenio_relaxed_subqs.owl DOID:0110035 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009467 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012799 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536595 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:104310 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863198 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018138 biolink:NamedThing ocular albinism with congenital sensorineural hearing loss phenio_relaxed_subqs.owl DOID:0090100 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:103470 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:352740 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863204 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050601 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000384 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538052 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:103285 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720464003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:978 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863224 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007067 biolink:NamedThing pyruvate kinase hyperactivity Autosomal dominant phenotype characterized by increase of red blood cell ATP. phenio_relaxed_subqs.owl OBO:MESH_C566310 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:102900 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005840 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863225 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000548 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566311 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:102800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_725057008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1044 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863235 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020458 biolink:NamedThing hemolytic anemia due to erythrocyte adenosine deaminase overproduction Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected. phenio_relaxed_subqs.owl UMLS:CN207319 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566314 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:102730 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99138 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863321 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:102350 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863342 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566322 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:102000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863343 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007046 biolink:NamedThing hereditary papulotranslucent acrokeratoderma A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis. phenio_relaxed_subqs.owl DOID:0060360 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566323 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:101840 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000708 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863416 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010036 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535300 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:100820 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007887 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863512 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011374 biolink:NamedThing hypercholesterolemia, familial, 4 An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia. phenio_relaxed_subqs.owl DOID:0090105 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566331 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128114 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603813 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863516 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011372 biolink:NamedThing microcephaly with simplified gyral pattern phenio_relaxed_subqs.owl OBO:MESH_C566332 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603802 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863551 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011369 biolink:NamedThing hypercholesterolemia, autosomal dominant, 3 Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene. phenio_relaxed_subqs.owl OBO:MESH_C566337 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603776 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863556 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010076 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538181 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603740 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863594 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566342 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603694 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863617 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566346 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603670 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863618 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566347 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603669 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863622 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008280 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535723 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603656 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863647 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011354 biolink:NamedThing situs inversus totalis with cystic dysplasia of kidneys and pancreas phenio_relaxed_subqs.owl OBO:GARD_0008567 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536666 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603643 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863648 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566351 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603642 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863649 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566352 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603641 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863677 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566356 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603600 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863688 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011346 biolink:NamedThing xanthinuria type II Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic. phenio_relaxed_subqs.owl OBO:GARD_0005620 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566358 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603592 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93602 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863691 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566359 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603588 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863692 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566360 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603587 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863702 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566361 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603572 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863704 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011339 biolink:NamedThing hereditary spastic paraplegia 8 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the WASHC5 gene. phenio_relaxed_subqs.owl DOID:0110823 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009591 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C580458 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603563 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100989 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863732 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0112199 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009866 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535784 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C125419 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603546 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_766820007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93360 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863767 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566367 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603530 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863843 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011327 biolink:NamedThing neuronal intranuclear inclusion disease Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss. phenio_relaxed_subqs.owl OBO:GARD_0003971 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537395 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C122655 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603472 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715437003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2289 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863870 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008885 biolink:NamedThing Elsahy-Waters syndrome An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971. phenio_relaxed_subqs.owl DOID:0080631 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000955 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537084 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566373 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:211380 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603463 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719097002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1299 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:157788 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863879 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566374 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603446 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863880 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566375 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603439 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863881 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000394 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603438 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3268 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863918 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010219 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536967 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603396 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863919 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566377 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603394 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863920 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566378 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603393 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863922 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566380 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603389 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863925 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011312 biolink:NamedThing thyroid carcinoma, nonmedullary, with or without cell oxyphilia phenio_relaxed_subqs.owl OBO:GARD_0008488 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537842 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603386 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1863959 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011309 biolink:NamedThing familial gestational hyperthyroidism phenio_relaxed_subqs.owl OBO:MESH_C566384 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603373 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_703309000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99819 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864010 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011307 biolink:NamedThing schizophrenia 2 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD2 on chromosome 11q14-q21. phenio_relaxed_subqs.owl DOID:0070078 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603342 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864028 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566392 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603323 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864040 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011305 biolink:NamedThing cerebral cavernous malformation 3 Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the PDCD10 gene. phenio_relaxed_subqs.owl DOID:0060671 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566393 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603285 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864041 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011304 biolink:NamedThing cerebral cavernous malformation 2 Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene. phenio_relaxed_subqs.owl DOID:0060670 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566394 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603284 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864068 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011302 biolink:NamedThing type 1 diabetes mellitus 17 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q25. phenio_relaxed_subqs.owl DOID:0110754 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566395 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603266 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864111 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011300 biolink:NamedThing myopia 3, autosomal dominant phenio_relaxed_subqs.owl OBO:MESH_C566397 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603221 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864112 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011299 biolink:NamedThing Huntington disease-like 1 Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene. phenio_relaxed_subqs.owl DOID:0090103 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566398 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603218 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:157941 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864124 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011298 biolink:NamedThing schizophrenia 8 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD8 on chromosome 18p. phenio_relaxed_subqs.owl DOID:0070084 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603206 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864148 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070116 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008743 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536131 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603194 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864153 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011294 biolink:NamedThing schizophrenia 5 A schizophrenia that has material basis in a mutation on chromosome 6q13-q26. phenio_relaxed_subqs.owl DOID:0070081 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603175 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864183 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566408 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603133 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864185 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566409 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603117 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864205 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011285 biolink:NamedThing age related macular degeneration 1 An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1. phenio_relaxed_subqs.owl DOID:0110014 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566411 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603075 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864232 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603040 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864233 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110667 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566415 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129304 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603034 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864275 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011280 biolink:NamedThing schizophrenia 6 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD6 on chromosome 8p21. phenio_relaxed_subqs.owl DOID:0070082 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603013 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864389 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:176430 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009077 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864436 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011274 biolink:NamedThing Muenke syndrome Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay. phenio_relaxed_subqs.owl DOID:0060703 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007097 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537369 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84904 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602849 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_440350001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:53271 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864445 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930890 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000581 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010239 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535391 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538322 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602782 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_711159002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:168569 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864497 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011269 biolink:NamedThing psoriasis 2 Any psoriasis in which the cause of the disease is a mutation in the CARD14 gene. phenio_relaxed_subqs.owl DOID:0080475 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602723 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864549 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566429 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602685 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864648 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012519 biolink:NamedThing Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders. phenio_relaxed_subqs.owl OBO:GARD_0010754 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610543 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:353281 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864651 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110961 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012503 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566435 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610539 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309252 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864652 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012516 biolink:NamedThing mandibulofacial dysostosis-microcephaly syndrome Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability. phenio_relaxed_subqs.owl DOID:0080196 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010056 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537405 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610536 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_711543008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79113 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864663 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060793 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0011980 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567166 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610532 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702379005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:85163 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864668 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012415 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene. phenio_relaxed_subqs.owl DOID:0111525 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566437 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610131 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864694 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566443 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610102 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864695 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012411 biolink:NamedThing giant axonal neuropathy 2 Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene. phenio_relaxed_subqs.owl UMLS:CN226146 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090069 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012447 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610100 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:401964 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864723 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012407 biolink:NamedThing pyridoxal phosphate-responsive seizures Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate. phenio_relaxed_subqs.owl DOID:0111329 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010730 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566449 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610090 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724576005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79096 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864729 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012406 biolink:NamedThing hyperparathyroidism 3 phenio_relaxed_subqs.owl OBO:MESH_C566450 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610071 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864730 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012405 biolink:NamedThing polyposis syndrome, hereditary mixed, 2 Any hereditary mixed polyposis syndrome in which the cause of the disease is a mutation in the BMPR1A gene. phenio_relaxed_subqs.owl DOID:0111686 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566451 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610069 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864761 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566454 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609698 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:171706 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864791 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566457 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609654 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864801 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2266788 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609649 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254677004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864823 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009754 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536115 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609643 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864826 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012323 biolink:NamedThing lethal acantholytic epidermolysis bullosa Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters. phenio_relaxed_subqs.owl OBO:GARD_0009910 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535493 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609638 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:158687 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864827 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110878 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566464 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C75460 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609637 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864828 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012321 biolink:NamedThing Alzheimer disease 10 An Alzheimer's disease that is characterized by an associated with variation in the region 7q36. phenio_relaxed_subqs.owl DOID:0110043 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566465 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609636 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864839 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111106 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010661 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566466 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610508 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_609574004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864843 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012510 biolink:NamedThing combined oxidative phosphorylation defect type 2 Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined. phenio_relaxed_subqs.owl DOID:0111483 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566468 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610498 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764943000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:254920 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864848 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012508 biolink:NamedThing agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation. phenio_relaxed_subqs.owl OBO:GARD_0010011 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538055 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610483 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722281001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:83617 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864851 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012505 biolink:NamedThing pigmented nodular adrenocortical disease, primary, 2 Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene. phenio_relaxed_subqs.owl OBO:MESH_C566472 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610475 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864852 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111160 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010012 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537975 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610474 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:85164 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864873 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566478 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610441 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864887 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012400 biolink:NamedThing cortical dysplasia-focal epilepsy syndrome An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder. phenio_relaxed_subqs.owl DOID:0090130 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C133743 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610042 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:163681 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864901 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566484 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610023 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864902 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012396 biolink:NamedThing exercise-induced hyperinsulinism Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. phenio_relaxed_subqs.owl UMLS:C1864904 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070214 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009932 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538376 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131839 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610021 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715830008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:165991 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864910 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009848 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536832 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610015 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:71278 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864912 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012392 biolink:NamedThing 2-methylbutyryl-CoA dehydrogenase deficiency A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported. phenio_relaxed_subqs.owl OBO:GARD_0010322 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566487 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C98863 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79157 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864939 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009946 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535381 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864940 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012389 biolink:NamedThing myopia 12, autosomal dominant phenio_relaxed_subqs.owl OBO:MESH_C566489 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609995 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864941 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012388 biolink:NamedThing myopia 11, autosomal dominant phenio_relaxed_subqs.owl OBO:MESH_C566490 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609994 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864943 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009861 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536557 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609990 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864944 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009942 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537354 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609989 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864946 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012384 biolink:NamedThing panic disorder 3 phenio_relaxed_subqs.owl OMIM:609985 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864947 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012383 biolink:NamedThing primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21. phenio_relaxed_subqs.owl OBO:MESH_C566492 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C123729 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609981 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724275005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:75391 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864948 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012382 biolink:NamedThing hyperinsulinemic hypoglycemia, familial, 4 Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the HADH gene. phenio_relaxed_subqs.owl UMLS:C4303473 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070215 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009870 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535310 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566493 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609975 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721236002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:71212 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864952 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012381 biolink:NamedThing hyperinsulinism due to INSR deficiency Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset. phenio_relaxed_subqs.owl DOID:0070220 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566494 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609968 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721235003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:263458 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864965 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009893 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537100 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609945 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864966 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009939 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536182 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609944 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864967 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3281201 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN029606 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070042 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009945 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538391 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:135900 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609943 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614562 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864994 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566501 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609633 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1864997 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010088 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537839 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C119058 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609628 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_703540008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:77297 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865022 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566507 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609616 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865092 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011265 biolink:NamedThing tooth agenesis, selective, 2 phenio_relaxed_subqs.owl OBO:MESH_C566513 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602639 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865117 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566514 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602613 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865133 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011262 biolink:NamedThing camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye Camptodactyly-joint contractures-facial skeletal defects syndrome is characterised by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline). phenio_relaxed_subqs.owl OBO:GARD_0000216 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535876 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602612 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715986009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1323 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865143 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011258 biolink:NamedThing branchiootic syndrome 1 Any branchiootic syndrome in which the cause of the disease is a mutation in the EYA1 gene. phenio_relaxed_subqs.owl OMIM:602588 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865180 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566519 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602564 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865181 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011255 biolink:NamedThing mandibulofacial dysostosis-macroblepharon-macrostomia syndrome phenio_relaxed_subqs.owl OBO:MESH_C566520 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602562 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:357158 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865182 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566521 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602561 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865203 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566524 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602556 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865204 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566525 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602555 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865209 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009985 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537567 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602551 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865233 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011246 biolink:NamedThing megaconial type congenital muscular dystrophy phenio_relaxed_subqs.owl DOID:0110632 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010317 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566527 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602541 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:280671 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865234 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566528 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602540 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865270 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110145 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602522 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717791000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865284 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566531 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602511 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865289 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011237 biolink:NamedThing hyperlipidemia, combined, 1 Any familial combined hyperlipidemia in which the cause of the disease is a mutation in the USF1 gene. phenio_relaxed_subqs.owl OBO:MESH_C566535 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602491 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865295 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN160484 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009798 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538270 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011234 biolink:NamedThing auriculocondylar syndrome 1 Any auriculocondylar syndrome in which the cause of the disease is a mutation in the GNAI3 gene. phenio_relaxed_subqs.owl MONDO:0013013 biolink:NamedThing question mark ears, isolated phenio_relaxed_subqs.owl MONDO:0013845 biolink:NamedThing auriculocondylar syndrome 2 Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene. phenio_relaxed_subqs.owl MONDO:0014312 biolink:NamedThing auriculocondylar syndrome 3 phenio_relaxed_subqs.owl OBO:OMIMPS_602483 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702443003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:137888 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865342 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011231 biolink:NamedThing febrile seizures, familial, 2 phenio_relaxed_subqs.owl DOID:0111310 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566541 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602477 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865343 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060887 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009699 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537143 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84975 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602475 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_90448008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005895 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865349 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011229 biolink:NamedThing ethylmalonic encephalopathy Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities. phenio_relaxed_subqs.owl DOID:0060640 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002198 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535737 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602473 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723307008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:51188 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865360 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566543 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602472 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865361 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011227 biolink:NamedThing short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome phenio_relaxed_subqs.owl OBO:MESH_C566544 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602471 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_417081007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:397623 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865409 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011223 biolink:NamedThing amyotrophic lateral sclerosis type 4 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SETX gene. phenio_relaxed_subqs.owl DOID:0060196 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010502 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566550 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602433 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:357043 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865427 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011222 biolink:NamedThing glaucoma 1, open angle, D phenio_relaxed_subqs.owl OBO:MESH_C566551 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602429 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865566 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010178 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536696 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602418 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865581 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011220 biolink:NamedThing parkinson disease 3, autosomal dominant phenio_relaxed_subqs.owl DOID:0111250 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008578 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566552 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602404 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865596 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010283 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566555 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602398 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_709490002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:35107 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865616 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013220 biolink:NamedThing hemochromatosis type 2B Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HAMP gene. phenio_relaxed_subqs.owl DOID:0111032 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566557 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613313 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865643 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070223 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001289 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535935 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602347 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79305 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865644 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011213 biolink:NamedThing Pierpont syndrome Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear. phenio_relaxed_subqs.owl OBO:MESH_C566559 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602342 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:487825 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865645 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566560 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602340 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865699 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566563 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602249 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865704 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011207 biolink:NamedThing xanthomatosis, susceptibility to phenio_relaxed_subqs.owl OMIM:602247 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865780 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566565 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602200 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865781 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010329 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566566 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602199 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865783 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010090 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535775 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602196 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865831 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566573 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602114 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865856 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011197 biolink:NamedThing hereditary thermosensitive neuropathy Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy. phenio_relaxed_subqs.owl OBO:MESH_C566575 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602107 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715645004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:84093 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865865 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011195 biolink:NamedThing Usher syndrome type 1E A form of Usher syndrome type I that features a novel locus for USH1, USH1E, mapping to chromosome band 21q21. It is inherited in an autosomal recessive manner. phenio_relaxed_subqs.owl DOID:0110833 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005439 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602097 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865868 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011194 biolink:NamedThing Alzheimer disease 5 phenio_relaxed_subqs.owl DOID:0110037 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566578 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602096 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865869 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011193 biolink:NamedThing cone dystrophy 3 Any cone dystrophy in which the cause of the disease is a mutation in the GUCA1A gene. phenio_relaxed_subqs.owl DOID:0080314 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602093 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865871 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535860 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602089 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:464293 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:91415 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865872 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111113 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566582 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602088 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93591 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865885 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011186 biolink:NamedThing Usher syndrome type 1F A form of Usher syndrome type IF that can be caused by homozygous or compound heterozygous mutation in the protocadherin-15 gene (PCDH15) on chromosome 10q. It is inherited in an autosomal recessive manner. phenio_relaxed_subqs.owl DOID:0110832 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010043 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602083 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865923 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566588 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602071 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865926 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008553 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535522 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126650 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602066 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715534008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:31709 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865974 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011176 biolink:NamedThing intestinal hypomagnesemia 1 Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications. phenio_relaxed_subqs.owl DOID:0060883 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013072 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566593 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:602014 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_190856003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:30924 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865981 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111219 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566594 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601992 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865986 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566595 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601979 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865988 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566597 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601976 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1865998 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566598 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601957 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722063009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:69082 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866029 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011169 biolink:NamedThing keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome Keratosis linearis-ichthyosis congenita-sclerosing keratoderma (KLICK) syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities. phenio_relaxed_subqs.owl OBO:MESH_C566600 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601952 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763775000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:281201 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866040 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110749 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566602 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601942 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866041 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011167 biolink:NamedThing type 1 diabetes mellitus 6 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 18q21. phenio_relaxed_subqs.owl DOID:0110745 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566603 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601941 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866139 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566617 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601846 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866174 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050722 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566618 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601815 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79351 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866176 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011151 biolink:NamedThing exudative vitreoretinopathy 4 phenio_relaxed_subqs.owl DOID:0111411 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566619 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601813 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866182 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004276 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004498 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536653 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601812 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:363665 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866183 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011149 biolink:NamedThing premature aging syndrome, Okamoto type phenio_relaxed_subqs.owl OBO:GARD_0004478 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566621 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601811 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866184 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010571 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566622 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601809 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866256 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011145 biolink:NamedThing colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome phenio_relaxed_subqs.owl OBO:MESH_C566623 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601794 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:363741 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866424 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566638 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601708 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866426 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060769 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004358 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536781 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601705 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720345008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:169095 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866428 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010031 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537530 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601700 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866483 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011129 biolink:NamedThing glaucoma type 1C phenio_relaxed_subqs.owl OBO:GARD_0002484 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601682 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866519 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011123 biolink:NamedThing type 1 diabetes mellitus 15 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q21. phenio_relaxed_subqs.owl DOID:0110753 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566645 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601666 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866608 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566651 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601616 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866619 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566652 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601608 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866636 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011113 biolink:NamedThing Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported. phenio_relaxed_subqs.owl DOID:0110183 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009201 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535423 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129864 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601596 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715797002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99949 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866656 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008484 biolink:NamedThing stapes ankylosis with broad thumbs and toes Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia. phenio_relaxed_subqs.owl OMIM:184460 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719305006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:140917 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866727 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566660 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:183850 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:163673 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866742 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566665 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:183500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866744 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566666 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:183350 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866746 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566668 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:183100 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866770 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566669 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:183050 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866784 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566675 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C132826 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:182960 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:139518 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866785 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080091 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008711 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C000598645 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:182920 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_765092004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:268129 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866849 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566679 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:182830 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866850 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008443 biolink:NamedThing spastic paraplegia-precocious puberty syndrome Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression. phenio_relaxed_subqs.owl OBO:GARD_0004918 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536874 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:182820 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2826 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866851 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008442 biolink:NamedThing spastic paraplegia-neuropathy-poikiloderma syndrome Spastic paraplegia-neuropathy-poikiloderma syndrome is a complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992. phenio_relaxed_subqs.owl OBO:GARD_0004921 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536870 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:182815 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2821 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866852 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566681 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:182800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866854 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008439 biolink:NamedThing spastic paraplegia-epilepsy-intellectual disability syndrome phenio_relaxed_subqs.owl OBO:GARD_0004915 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536869 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:182610 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2816 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866855 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008438 biolink:NamedThing hereditary spastic paraplegia 4 Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset. phenio_relaxed_subqs.owl UMLS:C4510079 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110792 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004925 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536865 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129981 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:182601 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723820001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100985 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866939 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566687 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:182255 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866960 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008423 biolink:NamedThing sinus node disease and myopia phenio_relaxed_subqs.owl OBO:GARD_0004880 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566690 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:182190 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1866983 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008418 biolink:NamedThing scleroderma, familial progressive phenio_relaxed_subqs.owl OMIM:181750 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1867005 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008407 biolink:NamedThing neurogenic scapuloperoneal syndrome, Kaeser type phenio_relaxed_subqs.owl DOID:0111551 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010312 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566695 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:181400 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:85146 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1867023 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008402 biolink:NamedThing cleft palate-large ears-small head syndrome Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed. phenio_relaxed_subqs.owl OBO:GARD_0000162 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536621 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:181180 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763130006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2013 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1867056 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:180950 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1867146 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203672 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537183 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:180750 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3106 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1867235 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009144 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C000598640 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:180270 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1867339 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010013 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535298 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:179700 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1867340 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:179650 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1867395 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:179400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1867398 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566728 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:179200 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1867403 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008355 biolink:NamedThing pyloric stenosis, infantile hypertrophic, 1 phenio_relaxed_subqs.owl OMIM:179010 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1867406 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:178651 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1867407 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566733 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:178650 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1867436 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566735 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:178350 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1867442 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566741 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:177990 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1867485 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566753 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:177300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1867499 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566754 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:177100 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1867726 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566757 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:176800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1867770 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008309 biolink:NamedThing primary release disorder of platelets phenio_relaxed_subqs.owl OBO:GARD_0010357 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566759 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:176630 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1867771 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010016 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C531791 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:176620 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1867772 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010032 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535273 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:176600 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1867773 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008306 biolink:NamedThing ABri amyloidosis A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2. phenio_relaxed_subqs.owl DOID:0070029 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008344 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538208 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:176500 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:97345 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1867904 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110647 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010433 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566766 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613695 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1867923 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010044 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536342 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:176250 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1867982 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008292 biolink:NamedThing punctate palmoplantar keratoderma type 2 Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections ("spiny keratosis") on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed. phenio_relaxed_subqs.owl DOID:0080213 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004439 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:175860 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_765096001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79502 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1868000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566774 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:175510 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1868001 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566775 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:175505 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1868005 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566776 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:175450 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1868006 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:175400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1868111 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001616 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009903 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017529 biolink:NamedThing polysyndactyly, unilateral phenio_relaxed_subqs.owl MONDO:0017530 biolink:NamedThing polysyndactyly, bilateral phenio_relaxed_subqs.owl OMIM:174700 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93338 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1868199 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566796 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:173590 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1868256 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566798 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:173450 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1868258 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566799 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:173420 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1868263 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566800 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:173400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1868309 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008247 biolink:NamedThing robin sequence-oligodactyly syndrome Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986. phenio_relaxed_subqs.owl OBO:GARD_0004729 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535688 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:172880 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3104 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1868355 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566803 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:172150 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1868391 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566806 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:171450 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1868392 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004321 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566807 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:171420 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1868402 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566808 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:171100 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1868426 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008546 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536001 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:170980 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1868511 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566812 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:169545 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1868545 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566814 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:169200 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1868546 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008211 biolink:NamedThing pseudoleprechaunism syndrome, Patterson type Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981. phenio_relaxed_subqs.owl OBO:GARD_0004259 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536310 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:169170 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2976 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1868570 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008209 biolink:NamedThing Char syndrome Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies. phenio_relaxed_subqs.owl DOID:0060563 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001237 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566815 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:169100 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_703534001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:46627 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1868575 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566816 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:169000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1868590 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566821 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:168800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1868594 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060486 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010453 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566822 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:168605 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_699184009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:178509 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1868647 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010174 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537167 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4383 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:167950 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237467005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1868652 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566836 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:167850 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1868672 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019006 biolink:NamedThing familial idiopathic steroid-resistant nephrotic syndrome Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset. phenio_relaxed_subqs.owl UMLS:C4273714 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN536255 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011303 biolink:NamedThing focal segmental glomerulosclerosis 1 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene. phenio_relaxed_subqs.owl MONDO:0019652 biolink:NamedThing familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation phenio_relaxed_subqs.owl MONDO:0019653 biolink:NamedThing familial idiopathic steroid-resistant nephrotic syndrome with minimal changes phenio_relaxed_subqs.owl MONDO:0019654 biolink:NamedThing familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis phenio_relaxed_subqs.owl OBO:SCTID_718141008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:656 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1868675 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010820 biolink:NamedThing autosomal recessive juvenile Parkinson disease 2 A group of disorders which feature impaired motor control characterized by bradykinesia, muscle rigidity; tremor; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see parkinson disease), secondary parkinsonism (see parkinson disease, secondary) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the basal ganglia. phenio_relaxed_subqs.owl DOID:0060368 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009642 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600116 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1868679 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011872 biolink:NamedThing Griscelli syndrome type 2 Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood. phenio_relaxed_subqs.owl DOID:0060833 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004483 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537302 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C111814 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607624 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79477 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1868705 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C99058 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_41371000119100 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99063 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1869122 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050802 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009991 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536201 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012873 biolink:NamedThing Ehlers-Danlos syndrome, spondylocheirodysplastic type Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers. phenio_relaxed_subqs.owl MONDO:0014139 biolink:NamedThing Ehlers-Danlos syndrome, spondylodysplastic type, 2 Any Ehlers-Danlos syndrome, spondylodysplastic type in which the cause of the disease is a mutation in the B3GALT6 gene. phenio_relaxed_subqs.owl MONDO:0020682 biolink:NamedThing Ehlers-Danlos syndrome, spondylodysplastic type, 1 phenio_relaxed_subqs.owl OBO:SCTID_720861000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:75496 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1876187 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0100251 biolink:NamedThing familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome phenio_relaxed_subqs.owl DOID:0111063 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010879 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131851 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:306661 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1876214 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006731 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:126070 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_23006000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1955934 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012109 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010495 biolink:NamedThing trichothiodystrophy 5, nonphotosensitive Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene. phenio_relaxed_subqs.owl MONDO:0014841 biolink:NamedThing trichothiodystrophy 6, nonphotosensitive Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the GTF2E2 gene. phenio_relaxed_subqs.owl MONDO:0021013 biolink:NamedThing trichothiodystrophy 4, nonphotosensitive A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein. phenio_relaxed_subqs.owl MONDO:0030517 biolink:NamedThing trichothiodystrophy 8, nonphotosensitive phenio_relaxed_subqs.owl MONDO:0030518 biolink:NamedThing trichothiodystrophy 9, nonphotosensitive phenio_relaxed_subqs.owl MONDO:0032806 biolink:NamedThing trichothiodystrophy 7, nonphotosensitive phenio_relaxed_subqs.owl NCIT:C4924 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_601675 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723551003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:33364 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1956125 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202206 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:118450 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261619 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1956257 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009938 biolink:NamedThing pulmonic stenosis phenio_relaxed_subqs.owl OBO:GARD_0010071 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:265500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1956391 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13375 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009615 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000498 biolink:NamedThing arteritic anterior ischemic optic neuropathy An anterior ischemic neuropathy that is the cause of vision loss that occurs in temporal arteritis (aka giant cell arteritis) phenio_relaxed_subqs.owl NCIT:C35065 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:187360 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_400130008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001209 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:397 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1956395 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_8051000119105 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:357107 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1956396 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_25981000119102 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:357131 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1959620 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010130 biolink:NamedThing dihydropyrimidine dehydrogenase deficiency Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner. phenio_relaxed_subqs.owl DOID:14218 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000019 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D054067 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84672 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:274270 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_77365006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1675 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1959626 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012481 biolink:NamedThing mevalonic aciduria Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes. phenio_relaxed_subqs.owl DOID:0050452 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003588 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84890 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610377 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718558008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:29 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1960469 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4021133 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060480 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010985 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011094 biolink:NamedThing dilated cardiomyopathy 1C A dilated cardiomyopathy that has material basis in mutation in the LDB3 gene on chromosome 10q23.2. phenio_relaxed_subqs.owl MONDO:0012744 biolink:NamedThing dilated cardiomyopathy 1Y Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene. phenio_relaxed_subqs.owl MONDO:0013261 biolink:NamedThing dilated cardiomyopathy 1R Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene. phenio_relaxed_subqs.owl MONDO:0013262 biolink:NamedThing dilated cardiomyopathy 1S Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene. phenio_relaxed_subqs.owl MONDO:0014042 biolink:NamedThing left ventricular noncompaction 7 Any left ventricular noncompaction in which the cause of the disease is a mutation in the MIB1 gene. phenio_relaxed_subqs.owl MONDO:0014152 biolink:NamedThing left ventricular noncompaction 8 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PRDM16 gene. phenio_relaxed_subqs.owl MONDO:0014163 biolink:NamedThing left ventricular noncompaction 10 Any left ventricular noncompaction in which the cause of the disease is a mutation in the MYBPC3 gene. phenio_relaxed_subqs.owl NCIT:C99544 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_604169 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:54260 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1960539 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013301 biolink:NamedThing aromatase deficiency Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men. phenio_relaxed_subqs.owl OBO:GARD_0000365 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537436 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C120144 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613546 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:91 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1960543 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019208 biolink:NamedThing Bickerstaff brainstem encephalitis Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma). phenio_relaxed_subqs.owl OBO:SCTID_427086003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79138 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1963674 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011330 biolink:NamedThing spinocerebellar ataxia type 10 Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances. phenio_relaxed_subqs.owl UMLS:C4275023 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050960 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010474 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566874 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603516 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715754007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98761 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1968602 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009929 biolink:NamedThing neonatal acute respiratory distress due to SP-B deficiency phenio_relaxed_subqs.owl OBO:GARD_0004595 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566882 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:265120 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:217563 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1968637 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566884 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:251700 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1968689 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009478 biolink:NamedThing combined immunodeficiency due to DOCK8 deficiency Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE). phenio_relaxed_subqs.owl OBO:GARD_0002816 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126343 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:243700 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:217390 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1968838 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566898 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611650 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1968846 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012707 biolink:NamedThing familial febrile seizures 9 phenio_relaxed_subqs.owl DOID:0111303 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566901 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611634 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1968893 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566904 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610420 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1969040 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012699 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2M A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases. phenio_relaxed_subqs.owl DOID:0110296 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012538 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566912 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611588 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:206554 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1969044 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566913 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611572 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1969046 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566914 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611571 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1969052 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070119 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566915 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611561 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1969053 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012694 biolink:NamedThing Joubert syndrome 7 Any Joubert syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene. phenio_relaxed_subqs.owl DOID:0111002 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566916 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611560 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1969054 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010760 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566917 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611556 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_725027004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:137625 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1969055 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566918 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611555 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1969056 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080549 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537117 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611554 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1969057 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060583 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C548083 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611553 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1969060 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012689 biolink:NamedThing premature ovarian failure 5 Any primary ovarian failure in which the cause of the disease is a mutation in the NOBOX gene. phenio_relaxed_subqs.owl OBO:MESH_C566921 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611548 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1969084 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012683 biolink:NamedThing pontocerebellar hypoplasia type 6 Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis. phenio_relaxed_subqs.owl DOID:0060275 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010710 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C548074 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611523 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718606005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:166073 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1969087 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012681 biolink:NamedThing febrile seizures, familial, 7 phenio_relaxed_subqs.owl DOID:0111311 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566929 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611515 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1969092 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111116 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566930 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611498 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1969108 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012674 biolink:NamedThing age related macular degeneration 10 Any age-related macular degeneration in which the cause of the disease is a mutation in the TLR4 gene. phenio_relaxed_subqs.owl DOID:0110022 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566935 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611488 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1969617 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012671 biolink:NamedThing tremor, hereditary essential, 3 phenio_relaxed_subqs.owl DOID:0111430 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566949 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611456 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1969623 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012669 biolink:NamedThing Legius syndrome Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling. phenio_relaxed_subqs.owl OBO:GARD_0010714 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C548032 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611431 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_703541007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:137605 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1969645 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012664 biolink:NamedThing spastic ataxia 3 Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene. phenio_relaxed_subqs.owl UMLS:CN230089 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050942 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566956 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611390 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314603 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1969651 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012659 biolink:NamedThing age related macular degeneration 9 Any age-related macular degeneration in which the cause of the disease is a mutation in the C3 gene. phenio_relaxed_subqs.owl DOID:0110021 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566958 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611378 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1969796 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012651 biolink:NamedThing spastic ataxia 2 Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs. phenio_relaxed_subqs.owl DOID:0050941 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566969 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611302 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:397946 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1969799 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012650 biolink:NamedThing Cernunnos-XLF deficiency Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia. phenio_relaxed_subqs.owl OBO:MESH_C566970 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611291 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720853005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:169079 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1969809 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012648 biolink:NamedThing isobutyryl-CoA dehydrogenase deficiency An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25). phenio_relaxed_subqs.owl OBO:GARD_0010223 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535541 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129975 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611283 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79159 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1969811 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012646 biolink:NamedThing glaucoma 1, open angle, H phenio_relaxed_subqs.owl OBO:MESH_C566976 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611276 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1969893 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566980 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:136630 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970005 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110086 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566982 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611263 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970009 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012643 biolink:NamedThing hereditary spastic paraplegia 32 Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21. phenio_relaxed_subqs.owl UMLS:C4511958 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110783 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012749 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566983 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611252 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_726606003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:171622 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970011 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012640 biolink:NamedThing Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. phenio_relaxed_subqs.owl DOID:0110184 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012443 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566984 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C134954 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611228 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720638000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:139515 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970021 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012635 biolink:NamedThing COG8-CDG The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. phenio_relaxed_subqs.owl DOID:0070260 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012411 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566987 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611182 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717774004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:95428 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970039 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566989 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605856 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970109 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090122 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012494 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C000591739 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:139300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_709075008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:178345 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970119 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111700 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111701 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010432 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600919 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764457005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970130 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007115 biolink:NamedThing angioma serpiginosum, autosomal dominant phenio_relaxed_subqs.owl OBO:GARD_0010189 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536365 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:106050 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970144 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012631 biolink:NamedThing Alzheimer disease 14 An Alzheimer's disease that is characterized by an associated with variation in the region 1q25. phenio_relaxed_subqs.owl DOID:0110047 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566999 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611154 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970147 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012630 biolink:NamedThing Alzheimer disease 13 An Alzheimer's disease that is characterized by an associated with variation in the region 1q21. phenio_relaxed_subqs.owl DOID:0110046 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567000 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611152 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970161 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070118 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611134 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970173 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012624 biolink:NamedThing acyl-CoA dehydrogenase 9 deficiency A rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy. phenio_relaxed_subqs.owl OBO:MESH_C567006 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611126 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_725046003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99901 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970196 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0100255 biolink:NamedThing adenosine kinase deficiency A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement. phenio_relaxed_subqs.owl UMLS:C3280381 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111038 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567015 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611094 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614300 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:289290 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970203 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012611 biolink:NamedThing polyhydramnios, megalencephaly, and symptomatic epilepsy phenio_relaxed_subqs.owl OBO:GARD_0012913 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567020 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611087 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:500533 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970209 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012609 biolink:NamedThing Alzheimer disease 12 An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22. phenio_relaxed_subqs.owl DOID:0110045 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567022 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611073 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970253 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012596 biolink:NamedThing PSAT deficiency Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia. phenio_relaxed_subqs.owl DOID:0050723 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013273 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567032 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610992 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718603002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:284417 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970291 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011477 biolink:NamedThing tooth agenesis, selective, 3 Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene. phenio_relaxed_subqs.owl OBO:MESH_C567036 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604625 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970343 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567039 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603589 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970344 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011342 biolink:NamedThing SLC35A1-CDG SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage. phenio_relaxed_subqs.owl DOID:0070258 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012409 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567040 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603585 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723624008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:238459 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970416 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060590 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010628 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567043 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610965 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970431 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012589 biolink:NamedThing Pitt-Hopkins syndrome Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing. phenio_relaxed_subqs.owl DOID:0060488 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004372 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537403 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129872 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610954 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702344008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2896 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970440 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567045 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610947 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970456 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012582 biolink:NamedThing interstitial lung disease due to ABCA3 deficiency Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea. phenio_relaxed_subqs.owl OBO:MESH_C567046 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610921 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:440402 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970476 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567050 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610898 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970479 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111424 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610896 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970485 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009695 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567055 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610871 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970506 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110606 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567057 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610852 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970712 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4274947 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080137 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567059 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C157449 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610755 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715907003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:276152 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970757 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010741 biolink:NamedThing tooth agenesis, selective, X-linked, 1 Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene. phenio_relaxed_subqs.owl OBO:MESH_C567060 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:313500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970827 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010395 biolink:NamedThing phosphoribosylpyrophosphate synthetase superactivity Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity). phenio_relaxed_subqs.owl DOID:0111260 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567064 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018463 biolink:NamedThing mild phosphoribosylpyrophosphate synthetase superactivity Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders. phenio_relaxed_subqs.owl MONDO:0018464 biolink:NamedThing severe phosphoribosylpyrophosphate synthetase superactivity Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies. phenio_relaxed_subqs.owl OMIM:300661 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723454008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3222 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970848 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007389 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567067 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126738 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300653 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:713 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1970936 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009601 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537159 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300184 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C1997910 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016603 biolink:NamedThing citrullinemia type II Citrullinemia type II is a severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma. phenio_relaxed_subqs.owl OBO:SCTID_429735007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:247582 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2004576 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27394 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_VMM biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000619 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2019443 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5531 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40093 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000432 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2033037 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5741 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27454 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2062388 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009049 biolink:NamedThing Cushing syndrome due to macronodular adrenal hyperplasia A rare type of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS. phenio_relaxed_subqs.owl UMLS:CN200644 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010824 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565662 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014416 biolink:NamedThing ACTH-independent macronodular adrenal hyperplasia 2 Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene. phenio_relaxed_subqs.owl OBO:SCTID_720459002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:189427 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2062889 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020420 biolink:NamedThing pulmonary branch stenosis Narrowing of the lumen of the right or left pulmonary artery branch. phenio_relaxed_subqs.owl NCIT:C99144 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99084 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2075522 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6554 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40079 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2108396 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050050 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2212006 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6179 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010411 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27390 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_SCCO biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000431 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:370396 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2212014 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6278 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40034 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2212024 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003463 biolink:NamedThing ovarian endometrioid adenofibroma A benign neoplasm of the ovary characterized by the presence of glandular structures with endometrial-type well-differentiated cells in a fibrotic stroma. phenio_relaxed_subqs.owl DOID:5480 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27287 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2242703 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D059347 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C123225 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_445236007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001262 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2242711 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050863 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733506009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2315246 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016499 biolink:NamedThing acute pandysautonomia Acute pandysautonomia is a rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating. phenio_relaxed_subqs.owl OBO:SCTID_430042004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:231457 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2316212 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016168 biolink:NamedThing cryopyrin-associated periodic syndrome Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS). phenio_relaxed_subqs.owl OBO:GARD_0010927 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D056587 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011776 biolink:NamedThing CINCA syndrome Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs. phenio_relaxed_subqs.owl NCIT:C84657 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_430079001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:208650 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2347126 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019124 biolink:NamedThing microscopic polyangiitis Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs. phenio_relaxed_subqs.owl OBO:GARD_0003652 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_M31.7 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D055953 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C70549 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_239928004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000784 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:727 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2349994 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050096 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_399329002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2350236 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2797 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D054988 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017591 biolink:NamedThing combined pulmonary fibrosis-emphysema syndrome phenio_relaxed_subqs.owl MONDO:0019204 biolink:NamedThing respiratory bronchiolitis-interstitial lung disease syndrome Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening. phenio_relaxed_subqs.owl MONDO:0044633 biolink:NamedThing idiopathic pleuroparenchymal fibroelastosis phenio_relaxed_subqs.owl MONDO:0800029 biolink:NamedThing interstitial lung disease 2 A nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause. phenio_relaxed_subqs.owl NCIT:C35714 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_700249006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2362538 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6275 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7915 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254959007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2607914 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4481 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_477.9 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005324 biolink:NamedThing seasonal allergic rhinitis Allergic rhinitis caused by outdoor allergens. phenio_relaxed_subqs.owl NCIT:C79532 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607154 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_61582004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005854 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2607947 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567079 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:125000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2608087 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012080 biolink:NamedThing neuronopathy, distal hereditary motor, type 2B Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene. phenio_relaxed_subqs.owl DOID:0111207 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567084 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608634 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2609071 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0100296 biolink:NamedThing Olmsted syndrome 1 Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques. phenio_relaxed_subqs.owl OBO:GARD_0004075 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614594 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:659 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2609129 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0040091 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010911 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017228 biolink:NamedThing autoimmune pancreatitis type 2 Type 2 autoimmune pancreatitis is a form of autoimmune pancreatitis (see this term) affecting both sexes and having a younger age of onset (<60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice. phenio_relaxed_subqs.owl OBO:SCTID_448542008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:103919 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2609268 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010939 biolink:NamedThing low phospholipid associated cholelithiasis Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years. phenio_relaxed_subqs.owl OMIM:600803 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715577009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:69663 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2673193 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110219 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567087 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611777 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2673195 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012726 biolink:NamedThing autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures. phenio_relaxed_subqs.owl OBO:GARD_0010889 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567088 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611773 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702428000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:73229 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2673196 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012725 biolink:NamedThing lipoprotein glomerulopathy phenio_relaxed_subqs.owl OBO:MESH_C567089 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611771 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_446923008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:329481 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2673198 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3897034 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090063 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567090 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C119043 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611762 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:247868 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2673203 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010568 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567093 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611733 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2673257 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111446 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002167 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567095 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611726 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:263516 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2673266 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010289 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567097 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611722 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2673427 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567102 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:250790 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2673477 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:247623 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2673535 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001902 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605407 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715827001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101150 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2673536 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009306 biolink:NamedThing combined immunodeficiency with skin granulomas phenio_relaxed_subqs.owl OBO:MESH_C567115 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:233650 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:157949 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2673609 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2673610 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002143 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79405 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2673630 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009154 biolink:NamedThing hypothyroidism, congenital, nongoitrous, 5 Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene. phenio_relaxed_subqs.owl DOID:0070125 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567123 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:225250 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2673635 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4303785 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111330 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012505 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567125 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611721 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720864008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:139406 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2673642 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012718 biolink:NamedThing hypotonia with lactic acidemia and hyperammonemia This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia. phenio_relaxed_subqs.owl UMLS:C4510567 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111473 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567126 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611719 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724279004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:137908 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2673648 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012717 biolink:NamedThing renal hypomagnesemia 4 Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene. phenio_relaxed_subqs.owl DOID:0060882 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567127 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611718 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2673677 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012714 biolink:NamedThing early-onset myopathy with fatal cardiomyopathy phenio_relaxed_subqs.owl OBO:MESH_C567129 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611705 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702343002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:289377 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2673697 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567131 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611694 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2673736 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001854 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567132 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:222690 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1032 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2673817 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001361 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567137 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:215520 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2673873 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110135 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567140 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615990 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2673874 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110136 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567141 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615991 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2673885 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070121 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004665 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537756 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:267010 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3032 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2673923 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008770 biolink:NamedThing amelogenesis imperfecta type 1C phenio_relaxed_subqs.owl DOID:0110056 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567147 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:204650 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2674616 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016362 biolink:NamedThing attenuated familial adenomatous polyposis Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features. phenio_relaxed_subqs.owl OBO:GARD_0008532 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538265 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016613 biolink:NamedThing APC-related attenuated familial adenomatous polyposis phenio_relaxed_subqs.owl MONDO:0018426 biolink:NamedThing AXIN2-related attenuated familial adenomatous polyposis phenio_relaxed_subqs.owl MONDO:0018653 biolink:NamedThing Polymerase proofreading-related adenomatous polyposis phenio_relaxed_subqs.owl MONDO:0018812 biolink:NamedThing MSH3-related attenuated familial adenomatous polyposis phenio_relaxed_subqs.owl NCIT:C6729 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715866009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:220460 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2674695 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:167100 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2674723 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110117 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614470 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723508002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:268114 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2674798 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567176 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612731 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2674937 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012315 biolink:NamedThing distal 10q deletion syndrome Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay. phenio_relaxed_subqs.owl UMLS:C4305277 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060390 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003711 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567182 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609625 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718687003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:96148 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2674949 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012269 biolink:NamedThing chromosome 3q29 microdeletion syndrome 3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. phenio_relaxed_subqs.owl DOID:0060419 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0011974 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567184 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609425 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716456000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:65286 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2674987 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567185 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609222 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675099 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567190 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:148390 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675179 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050712 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010323 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567192 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612718 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702440000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:35704 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675180 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012995 biolink:NamedThing myopia 15, autosomal dominant phenio_relaxed_subqs.owl OBO:MESH_C567193 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612717 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675184 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4302747 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567195 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612714 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722207000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:199337 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675185 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200191 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050807 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567196 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612713 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:168972 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675187 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012989 biolink:NamedThing microcephaly 7, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the STIL gene. phenio_relaxed_subqs.owl DOID:0070278 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567198 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612703 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675204 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080181 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567203 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612674 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723452007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:171848 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675228 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110601 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567211 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612650 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675229 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110602 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567212 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612649 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675251 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012972 biolink:NamedThing febrile seizures, familial, 10 phenio_relaxed_subqs.owl DOID:0111304 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567218 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612637 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675336 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4304726 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126692 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608636 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719427001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:238446 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675369 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012020 biolink:NamedThing chromosome 22q11.2 microduplication syndrome The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication syndrome. phenio_relaxed_subqs.owl DOID:0060436 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010557 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567224 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016846 biolink:NamedThing distal 22q11.2 microduplication syndrome Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported. phenio_relaxed_subqs.owl OMIM:608363 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_699311001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1727 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675458 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012968 biolink:NamedThing Usher syndrome type 1H An Usher syndrome type 1 that has material basis in variation in the chromosome region 15q22-q23. phenio_relaxed_subqs.owl DOID:0110835 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567227 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612632 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675463 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012964 biolink:NamedThing chromosome 15q26-qter deletion syndrome Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported. phenio_relaxed_subqs.owl DOID:0060397 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567232 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612626 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_766050000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1596 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675472 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012961 biolink:NamedThing type 1 diabetes mellitus 23 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 4q27. phenio_relaxed_subqs.owl DOID:0110760 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567233 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612622 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675484 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012950 biolink:NamedThing aneurysm, intracranial berry, 10 phenio_relaxed_subqs.owl OBO:MESH_C567237 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612587 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675485 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012949 biolink:NamedThing aneurysm, intracranial berry, 9 phenio_relaxed_subqs.owl OBO:MESH_C567238 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612586 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675486 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012948 biolink:NamedThing chromosome 6pter-p24 deletion syndrome Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. phenio_relaxed_subqs.owl UMLS:C4305276 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060422 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567239 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612582 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718688008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:96125 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675492 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012944 biolink:NamedThing chromosome 17P13.3, telomeric, duplication syndrome phenio_relaxed_subqs.owl OBO:MESH_C567245 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612576 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675508 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012941 biolink:NamedThing inflammatory bowel disease 25 Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene. phenio_relaxed_subqs.owl DOID:0110909 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567251 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612567 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675511 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567253 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612563 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675512 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567254 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612562 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675523 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012932 biolink:NamedThing myopia 16, autosomal dominant phenio_relaxed_subqs.owl OBO:MESH_C567259 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612554 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675526 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012930 biolink:NamedThing autosomal recessive severe congenital neutropenia due to G6PC3 deficiency phenio_relaxed_subqs.owl OMIM:612541 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:331176 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675528 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012928 biolink:NamedThing hereditary spastic paraplegia 42 Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging. phenio_relaxed_subqs.owl DOID:0110794 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567262 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612539 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763070001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:171863 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675730 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007420 biolink:NamedThing autosomal dominant deafness - onychodystrophy syndrome Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges. phenio_relaxed_subqs.owl OBO:GARD_0004732 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:124480 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79499 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675857 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4274528 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060412 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003738 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612530 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716515000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:250999 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675858 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012926 biolink:NamedThing amelogenesis imperfecta hypomaturation type 2A2 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the MMP20 gene. phenio_relaxed_subqs.owl DOID:0110060 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567279 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612529 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675859 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567280 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612528 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675860 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567281 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612527 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675861 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012923 biolink:NamedThing congenital generalized lipodystrophy type 3 Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene. phenio_relaxed_subqs.owl DOID:0111137 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013389 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567282 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612526 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675862 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012922 biolink:NamedThing pyloric stenosis, infantile hypertrophic, 5 phenio_relaxed_subqs.owl OBO:MESH_C567283 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612525 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675864 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110759 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567284 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612522 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675865 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012920 biolink:NamedThing type 1 diabetes mellitus 21 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q25. phenio_relaxed_subqs.owl DOID:0110758 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567285 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612521 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675866 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110757 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567286 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612520 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675867 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110612 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567287 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612518 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675874 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012917 biolink:NamedThing specific language impairment 4 phenio_relaxed_subqs.owl OBO:MESH_C567288 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612514 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675875 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012916 biolink:NamedThing chromosome 2p16.1-p15 deletion syndrome 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. phenio_relaxed_subqs.owl UMLS:C4304538 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060415 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013391 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567289 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612513 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719651000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261349 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675891 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060435 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010591 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567290 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612475 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:250994 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2675904 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567292 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C122804 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612469 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2676137 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:105650 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2676230 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012910 biolink:NamedThing age-related hearing impairment 1 phenio_relaxed_subqs.owl OBO:MESH_C567305 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612448 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2676231 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567306 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612447 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2676232 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060299 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612446 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2676235 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110622 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567310 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612444 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2676244 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060798 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010917 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567314 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612438 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:139441 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2676285 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567320 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612394 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763318007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:300284 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2676508 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012874 biolink:NamedThing porokeratosis 6, disseminated superficial actinic type phenio_relaxed_subqs.owl OBO:MESH_C567339 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612353 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2676510 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567340 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612350 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:157965 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2676724 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012870 biolink:NamedThing chromosome 2q31.2 deletion syndrome phenio_relaxed_subqs.owl DOID:0060416 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567344 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612345 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2676732 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012867 biolink:NamedThing hereditary spastic paraplegia 38 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15. phenio_relaxed_subqs.owl DOID:0110789 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567349 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612335 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:171617 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2676739 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012864 biolink:NamedThing chromosome 2q32-q33 deletion syndrome 2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features. phenio_relaxed_subqs.owl UMLS:C4304531 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060428 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013206 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567350 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612313 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719659003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:251019 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:576283 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2676742 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012861 biolink:NamedThing premature ovarian failure 6 Any primary ovarian failure in which the cause of the disease is a mutation in the FIGLA gene. phenio_relaxed_subqs.owl OBO:MESH_C567351 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612310 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2676759 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012860 biolink:NamedThing thrombophilia due to protein C deficiency, autosomal recessive phenio_relaxed_subqs.owl OBO:GARD_0013041 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567353 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612304 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2676766 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012859 biolink:NamedThing autosomal recessive osteopetrosis 7 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene. phenio_relaxed_subqs.owl DOID:0110946 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010106 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567354 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612301 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:178389 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2676767 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012858 biolink:NamedThing primary CD59 deficiency phenio_relaxed_subqs.owl OBO:MESH_C567355 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612300 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:169464 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2676769 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012857 biolink:NamedThing porokeratosis 5, disseminated superficial actinic type phenio_relaxed_subqs.owl OBO:MESH_C567356 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612293 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2676770 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012856 biolink:NamedThing Birk-Barel syndrome Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing). phenio_relaxed_subqs.owl DOID:0050675 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010358 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567357 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612292 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764861005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:166108 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2676771 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012855 biolink:NamedThing Joubert syndrome 8 Any Joubert syndrome in which the cause of the disease is a mutation in the ARL13B gene. phenio_relaxed_subqs.owl DOID:0111003 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567358 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612291 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2676772 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012854 biolink:NamedThing bilateral microtia-deafness-cleft palate syndrome This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate. phenio_relaxed_subqs.owl OBO:MESH_C567359 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612290 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:140963 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2676788 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012849 biolink:NamedThing Joubert syndrome 9 Any Joubert syndrome in which the cause of the disease is a mutation in the CC2D2A gene. phenio_relaxed_subqs.owl DOID:0111004 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567364 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612285 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2676790 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070120 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567365 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612284 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2677065 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012847 biolink:NamedThing autosomal recessive congenital ichthyosis 6 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene. phenio_relaxed_subqs.owl DOID:0060715 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612281 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2677085 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110616 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567373 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612274 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2677102 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012830 biolink:NamedThing chromosome 10q23 deletion syndrome 10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive. phenio_relaxed_subqs.owl UMLS:CN202618 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060389 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013018 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567385 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612242 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:276413 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2677109 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060789 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567390 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612233 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:280288 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2677132 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111107 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010663 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567393 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612225 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_609576002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2677303 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567402 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612198 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2677336 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012811 biolink:NamedThing aneurysm, intracranial berry, 8 phenio_relaxed_subqs.owl OBO:MESH_C567405 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612162 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2677337 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012810 biolink:NamedThing aneurysm, intracranial berry, 7 phenio_relaxed_subqs.owl OBO:MESH_C567406 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612161 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2677349 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567408 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612138 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716701004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:158684 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2677481 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567411 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612132 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2677505 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010373 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567418 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612099 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2677512 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567420 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612097 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2677515 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567421 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612096 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2677524 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567423 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612089 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2677535 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012794 biolink:NamedThing ANE syndrome ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis. phenio_relaxed_subqs.owl OBO:MESH_C567425 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612079 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:157954 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2677586 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012787 biolink:NamedThing hereditary spastic paraplegia 39 This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting. phenio_relaxed_subqs.owl UMLS:C4304963 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110790 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004924 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567433 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612020 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719103009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:139480 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2677587 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012786 biolink:NamedThing juvenile cataract-microcornea-renal glucosuria syndrome Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. phenio_relaxed_subqs.owl DOID:0070353 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567434 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612018 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722457005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:247794 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2677588 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012785 biolink:NamedThing pyloric stenosis, infantile hypertrophic, 3 phenio_relaxed_subqs.owl OBO:MESH_C567435 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612017 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2677589 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4511089 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070241 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010294 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567436 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612016 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_725394006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:139485 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2677590 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012783 biolink:NamedThing RFT1-CDG RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1). phenio_relaxed_subqs.owl DOID:0080566 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012394 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567437 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612015 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733084000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:244310 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2677614 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012879 biolink:NamedThing schizophrenia 14 A schizophrenia that has material basis in a mutation on chromosome 2q32.1. phenio_relaxed_subqs.owl DOID:0070090 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612361 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2677745 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567445 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611962 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2677763 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567446 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611961 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2677774 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012767 biolink:NamedThing age related macular degeneration 11 Any age-related macular degeneration in which the cause of the disease is a mutation in the CST3 gene. phenio_relaxed_subqs.owl DOID:0110023 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567450 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611953 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2677787 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012765 biolink:NamedThing lymphatic malformation 2 phenio_relaxed_subqs.owl DOID:0070211 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567452 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611944 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2677809 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012759 biolink:NamedThing camptodactyly syndrome, Guadalajara type 3 Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age. phenio_relaxed_subqs.owl OBO:GARD_0010573 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567455 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611929 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:488434 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2677877 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010424 biolink:NamedThing surfactant metabolism dysfunction, pulmonary, 4 phenio_relaxed_subqs.owl OBO:MESH_C567461 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300770 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2677888 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110036 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567463 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300756 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2677897 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010418 biolink:NamedThing hereditary spastic paraplegia 34 X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients. phenio_relaxed_subqs.owl DOID:0110785 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567465 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300750 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763370008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:171607 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2678011 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567467 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300719 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2678037 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010411 biolink:NamedThing pyloric stenosis, infantile hypertrophic, 4 phenio_relaxed_subqs.owl OBO:MESH_C567472 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300711 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2678266 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010182 biolink:NamedThing hypercarotenemia and vitamin A deficiency, autosomal recessive phenio_relaxed_subqs.owl OBO:MESH_C567486 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:277350 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2678408 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009880 biolink:NamedThing short stature-pituitary and cerebellar defects-small sella turcica syndrome Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). phenio_relaxed_subqs.owl OBO:GARD_0010604 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567492 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:262700 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:85442 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2678469 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012752 biolink:NamedThing aneurysm, intracranial berry, 6 phenio_relaxed_subqs.owl OBO:MESH_C567500 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611892 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2678472 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567503 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611886 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2678473 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110605 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567504 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611884 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2678477 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110221 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010362 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567508 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611876 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2678478 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110220 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010361 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567509 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611875 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2678480 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012740 biolink:NamedThing chromosome 22q11.2 deletion syndrome, distal Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours. phenio_relaxed_subqs.owl UMLS:C4518343 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060413 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567511 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611867 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_734029004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261330 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2678483 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110652 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010437 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567513 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611820 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2678484 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110651 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010436 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567514 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611819 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2678486 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012735 biolink:NamedThing Temple-Baraitser syndrome A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients. phenio_relaxed_subqs.owl OBO:GARD_0009441 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567516 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611816 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009062 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:420561 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2678492 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010302 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567517 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C123726 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611812 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723720008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:139466 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2678494 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567519 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611808 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2680446 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014024 biolink:NamedThing hereditary spastic paraplegia 43 Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported. phenio_relaxed_subqs.owl DOID:0110795 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615043 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764736001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:320370 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2697932 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050466 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010788 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D055947 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012212 biolink:NamedThing Loeys-Dietz syndrome 1 A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones. phenio_relaxed_subqs.owl MONDO:0012427 biolink:NamedThing Loeys-Dietz syndrome 2 A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2. phenio_relaxed_subqs.owl MONDO:0013426 biolink:NamedThing aneurysm-osteoarthritis syndrome phenio_relaxed_subqs.owl MONDO:0013897 biolink:NamedThing Loeys-Dietz syndrome 4 Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene. phenio_relaxed_subqs.owl MONDO:0014262 biolink:NamedThing Rienhoff syndrome Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection. phenio_relaxed_subqs.owl MONDO:0030500 biolink:NamedThing Loeys-Dietz syndrome 6 phenio_relaxed_subqs.owl NCIT:C75006 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_609192 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_446263001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:60030 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2697933 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070235 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009458 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C75119 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609192 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:97295 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2698359 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C79950 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000108 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2700265 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019517 biolink:NamedThing Waardenburg syndrome type 2 Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum. phenio_relaxed_subqs.owl OBO:GARD_0005520 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536463 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008671 biolink:NamedThing Waardenburg syndrome type 2A Waardenburg syndrome Type 2 caused by mutations in the MITF gene. phenio_relaxed_subqs.owl MONDO:0012698 biolink:NamedThing Waardenburg syndrome type 2E Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene. phenio_relaxed_subqs.owl NCIT:C75009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:895 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2700405 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110956 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611584 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2717757 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007713 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D055955 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C116363 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702575003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001856 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:838 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2717865 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015492 biolink:NamedThing Anti-neutrophil cytoplasmic antibody-associated vasculitis Group of systemic vasculitis with a strong association with anca. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls. phenio_relaxed_subqs.owl OBO:GARD_0013011 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D056648 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012105 biolink:NamedThing granulomatosis with polyangiitis A small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis. phenio_relaxed_subqs.owl ORPHA:156152 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2718001 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D057165 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0700038 biolink:NamedThing TDP-43 proteinopathy Disease characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease. phenio_relaxed_subqs.owl UMLS:C2718017 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D057177 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2732890 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN237632 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_443928008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:440368 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2733623 biolink:NamedThing phenio_relaxed_subqs.owl DOID:3354 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6604 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2739810 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009962 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C9151 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_SKLMM biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_302837001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2745948 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111669 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006807 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016331 biolink:NamedThing infantile systemic hyalinosis Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands. phenio_relaxed_subqs.owl OMIM:228600 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:498474 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2745997 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010176 biolink:NamedThing orofaciodigital syndrome type 6 Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly. phenio_relaxed_subqs.owl DOID:0060376 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004412 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536531 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C124841 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:277170 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721873007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2754 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2746066 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016001 biolink:NamedThing 2-hydroxyglutaric aciduria 2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine. phenio_relaxed_subqs.owl DOID:0050573 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010761 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535306 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014072 biolink:NamedThing D,L-2-hydroxyglutaric aciduria D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites. phenio_relaxed_subqs.owl NCIT:C128187 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_698870008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:19 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2748507 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010516 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C557815 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C119056 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612852 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:210115 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2748536 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110912 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567555 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612840 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99844 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2748541 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110222 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612838 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2748555 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010689 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C548071 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612785 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2748557 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013008 biolink:NamedThing combined immunodeficiency due to STIM1 deficiency Aform of combined immunodeficiency due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. phenio_relaxed_subqs.owl OBO:GARD_0010523 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C557827 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612783 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:317430 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2748568 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013007 biolink:NamedThing combined immunodeficiency due to ORAI1 deficiency A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis. phenio_relaxed_subqs.owl OBO:GARD_0010524 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C557826 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612782 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:317428 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2748571 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013006 biolink:NamedThing isolated growth hormone deficiency type IB An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively. phenio_relaxed_subqs.owl DOID:0060874 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003919 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567564 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612781 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:231671 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2748586 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567566 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612777 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2748783 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010931 biolink:NamedThing vitamin D-dependent rickets, type 2B Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations. phenio_relaxed_subqs.owl NCIT:C131076 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600785 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237895001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2748884 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111753 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:500006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2748895 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016281 biolink:NamedThing 46,XX ovotesticular disorder of sex development 46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype. phenio_relaxed_subqs.owl UMLS:CN776920 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D050090 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C127167 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_18978002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2138 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2749007 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567580 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017404 biolink:NamedThing distal Xq28 microduplication syndrome Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism. phenio_relaxed_subqs.owl OMIM:300815 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2749016 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010432 biolink:NamedThing thrombophilia, X-linked, due to factor 9 defect A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9). phenio_relaxed_subqs.owl OBO:MESH_C567581 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300807 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2749019 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010431 biolink:NamedThing Joubert syndrome 10 Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene. phenio_relaxed_subqs.owl DOID:0110981 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567582 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300804 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2749215 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010218 biolink:NamedThing 46,XX sex reversal 2 phenio_relaxed_subqs.owl DOID:0111763 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:278850 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2749477 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004045 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567605 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:257850 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2749509 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009713 biolink:NamedThing myopia 18, autosomal recessive phenio_relaxed_subqs.owl OBO:MESH_C567606 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:255500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2749656 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601775 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2749873 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060459 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010360 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567626 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611936 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717973004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:251038 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2750035 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014676 biolink:NamedThing Emery-Dreifuss muscular dystrophy 3, autosomal recessive Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene. phenio_relaxed_subqs.owl DOID:0070248 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567633 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616516 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2750061 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567635 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613345 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2750068 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013226 biolink:NamedThing combined immunodeficiency with faciooculoskeletal anomalies Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia). phenio_relaxed_subqs.owl OBO:MESH_C567641 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613328 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:221139 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2750069 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111138 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010937 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567642 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613327 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:228429 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2750074 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013224 biolink:NamedThing rhabdoid tumor predisposition syndrome 2 Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene. phenio_relaxed_subqs.owl OBO:MESH_C567643 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613325 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2750078 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013219 biolink:NamedThing hypophosphatemic rickets, autosomal recessive, 2 Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene. phenio_relaxed_subqs.owl OBO:MESH_C567647 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613312 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2750079 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013218 biolink:NamedThing exudative vitreoretinopathy 5 Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the TSPAN12 gene. phenio_relaxed_subqs.owl DOID:0111408 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567648 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613310 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2750080 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567649 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613309 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2750081 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567650 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613308 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2750087 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567652 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613291 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:449262 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2750090 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013212 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2N Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow. phenio_relaxed_subqs.owl UMLS:C4304671 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110177 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012429 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567653 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613287 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719515001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:228174 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2750234 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012430 biolink:NamedThing cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene. phenio_relaxed_subqs.owl OBO:MESH_C567656 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610185 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2750389 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012292 biolink:NamedThing hepatitis C virus, susceptibility to phenio_relaxed_subqs.owl OMIM:609532 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2750433 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012165 biolink:NamedThing BNAR syndrome BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome. phenio_relaxed_subqs.owl UMLS:C4303547 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010595 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567672 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608980 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717940006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:217266 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2750452 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013202 biolink:NamedThing Waardenburg syndrome type 4C A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in SOX10. phenio_relaxed_subqs.owl DOID:0110955 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567679 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613266 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2750457 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013201 biolink:NamedThing Waardenburg syndrome type 4B A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3. phenio_relaxed_subqs.owl DOID:0110954 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567680 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613265 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2750471 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013196 biolink:NamedThing colorectal cancer, hereditary nonpolyposis, type 8 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the EPCAM gene. phenio_relaxed_subqs.owl DOID:0070270 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567685 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613244 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2750509 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013188 biolink:NamedThing cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 Any dysequilibrium syndrome in which the cause of the disease is a mutation in the CA8 gene. phenio_relaxed_subqs.owl OBO:MESH_C567690 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613227 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2750548 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007163 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:161550 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2750732 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060584 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010701 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C548084 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613224 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2750748 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013182 biolink:NamedThing chromosome 17p13.3 duplication syndrome 17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features. phenio_relaxed_subqs.owl UMLS:C4304641 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060432 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567705 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613215 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719582007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:217385 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2750771 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013181 biolink:NamedThing amelogenesis imperfecta hypomaturation type 2A3 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene. phenio_relaxed_subqs.owl DOID:0110061 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567706 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613211 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2750784 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013179 biolink:NamedThing hereditary spastic paraplegia 44 A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein. phenio_relaxed_subqs.owl DOID:0110796 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567707 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613206 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723821002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:320401 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2750786 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013177 biolink:NamedThing congenital muscular dystrophy due to integrin alpha-7 deficiency Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency. phenio_relaxed_subqs.owl DOID:0110639 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012587 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567709 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613204 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:34520 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2750787 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567710 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613195 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:363992 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2750790 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110618 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567713 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613193 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2750805 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013169 biolink:NamedThing chromosome 5p13 duplication syndrome 5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes). phenio_relaxed_subqs.owl DOID:0060460 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567717 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613174 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:329802 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2750824 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080219 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567719 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:145680 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751012 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567726 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613164 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751052 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013156 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 phenio_relaxed_subqs.owl OMIM:613152 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751053 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013153 biolink:NamedThing inflammatory bowel disease 28 Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RA gene. phenio_relaxed_subqs.owl DOID:0110899 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567728 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613148 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751067 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010484 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567730 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0030676 biolink:NamedThing parkinsonism-dystonia 3, childhood-onset phenio_relaxed_subqs.owl MONDO:0054835 biolink:NamedThing parkinsonism-dystonia, infantile, 1 phenio_relaxed_subqs.owl MONDO:0054836 biolink:NamedThing parkinsonism-dystonia, infantile, 2 phenio_relaxed_subqs.owl NCIT:C129866 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_613135 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722763000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:238455 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751073 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567731 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613124 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751083 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110225 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567732 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613123 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751088 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110224 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567734 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613120 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751089 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110223 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567735 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613119 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751092 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013142 biolink:NamedThing neuropathy, hereditary sensory and autonomic, type 2B Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the RETREG1 gene. phenio_relaxed_subqs.owl DOID:0070150 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613115 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751189 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:124300 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:124400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751288 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567748 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613107 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751289 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567749 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613106 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751293 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013135 biolink:NamedThing familial hemophagocytic lymphohistiocytosis 5 Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene. phenio_relaxed_subqs.owl DOID:0110925 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567752 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613101 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751294 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013134 biolink:NamedThing glaucoma 1, open angle, O Any open-angle glaucoma in which the cause of the disease is a mutation in the NTF4 gene. phenio_relaxed_subqs.owl OBO:MESH_C567753 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613100 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751306 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013131 biolink:NamedThing polycystic kidney disease 2 Autosomal dominant polycystic kidney disease caused by a mutation in PKD2. phenio_relaxed_subqs.owl DOID:0110859 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C123166 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613095 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_253879006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751312 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000909 biolink:NamedThing Bartter disease type 4B A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes. phenio_relaxed_subqs.owl DOID:0110146 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613090 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751317 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111776 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567766 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613080 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751319 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013117 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RRM2B gene. phenio_relaxed_subqs.owl DOID:0111518 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567768 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613077 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751320 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010522 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567769 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613076 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:330054 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751325 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567773 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607080 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:168563 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751431 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007195 biolink:NamedThing bifid nose, autosomal dominant phenio_relaxed_subqs.owl OMIM:109740 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751494 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011583 biolink:NamedThing cerebral amyloid angiopathy, APP-related A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3. phenio_relaxed_subqs.owl UMLS:C2751536 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3888307 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3888308 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3888309 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070028 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015033 biolink:NamedThing ABeta amyloidosis, dutch type Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA, a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia. phenio_relaxed_subqs.owl MONDO:0017945 biolink:NamedThing ABetaL34V amyloidosis Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline. phenio_relaxed_subqs.owl MONDO:0017946 biolink:NamedThing ABeta amyloidosis, Iowa type Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages. phenio_relaxed_subqs.owl MONDO:0017947 biolink:NamedThing ABeta amyloidosis, Italian type Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage. phenio_relaxed_subqs.owl MONDO:0017948 biolink:NamedThing ABetaA21G amyloidosis Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients. phenio_relaxed_subqs.owl MONDO:0017949 biolink:NamedThing ABeta amyloidosis, Arctic type Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages. phenio_relaxed_subqs.owl OMIM:605714 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751532 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011614 biolink:NamedThing 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death. phenio_relaxed_subqs.owl OBO:GARD_0002712 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567784 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605911 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_725286002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:35701 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751535 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111058 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567786 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605735 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751599 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013107 biolink:NamedThing atopic dermatitis 7 An atopic dermatitis associated with variation in the region 11q13.5. phenio_relaxed_subqs.owl DOID:0110103 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567796 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613064 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751600 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013106 biolink:NamedThing basal cell carcinoma, susceptibility to, 6 phenio_relaxed_subqs.owl OMIM:613063 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751601 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013105 biolink:NamedThing basal cell carcinoma, susceptibility to, 5 phenio_relaxed_subqs.owl OMIM:613062 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751602 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013104 biolink:NamedThing basal cell carcinoma, susceptibility to, 4 phenio_relaxed_subqs.owl OMIM:613061 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751605 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013102 biolink:NamedThing basal cell carcinoma, susceptibility to, 3 phenio_relaxed_subqs.owl OMIM:613059 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751606 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013101 biolink:NamedThing basal cell carcinoma, susceptibility to, 2 phenio_relaxed_subqs.owl OMIM:613058 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751608 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024464 biolink:NamedThing pituitary hormone deficiency, combined, 1 Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene. phenio_relaxed_subqs.owl OBO:GARD_0010601 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567803 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613038 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751643 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111043 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567809 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613027 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751651 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013090 biolink:NamedThing chromosome 19q13.11 deletion syndrome The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails. phenio_relaxed_subqs.owl UMLS:C4304577 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060408 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010592 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567810 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014972 biolink:NamedThing chromosome 19q13.11 deletion syndrome, proximal Chromosome 19q13.11 deletion syndrome in which the proximal region was deleted. phenio_relaxed_subqs.owl MONDO:0700107 biolink:NamedThing chromosome 19q13.11 deletion syndrome, distal Chromosome 19q13.11 deletion syndrome in which the distal region was deleted. phenio_relaxed_subqs.owl OBO:SCTID_719599008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:217346 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751663 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013089 biolink:NamedThing schizophrenia 13 A schizophrenia that has material basis in a mutation on chromosome 15q13. phenio_relaxed_subqs.owl DOID:0070089 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613025 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751697 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013078 biolink:NamedThing type 1 diabetes mellitus 24 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q23.31. phenio_relaxed_subqs.owl DOID:0110761 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567818 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751698 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567819 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751805 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013072 biolink:NamedThing Emery-Dreifuss muscular dystrophy 5, autosomal dominant Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene. phenio_relaxed_subqs.owl DOID:0070250 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612999 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751807 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013071 biolink:NamedThing Emery-Dreifuss muscular dystrophy 4, autosomal dominant Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene. phenio_relaxed_subqs.owl DOID:0070249 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567831 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612998 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751812 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111437 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567833 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612989 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:227976 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751814 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013068 biolink:NamedThing age-related hearing impairment 2 phenio_relaxed_subqs.owl OBO:MESH_C567834 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612976 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751824 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020040 biolink:NamedThing 46,XY disorder of sex development Differences of sex development in individuals with 46,XY karyotype. phenio_relaxed_subqs.owl OBO:GARD_0008538 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D058490 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009916 biolink:NamedThing 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production. phenio_relaxed_subqs.owl MONDO:0010268 biolink:NamedThing X-linked lissencephaly with abnormal genitalia X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene (ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome), autistic features and nonsyndromicintellectual deficit. phenio_relaxed_subqs.owl MONDO:0010824 biolink:NamedThing disorder of sex development-intellectual disability syndrome Verloes-Gillerot-Fryns syndrome is a rare association of malformations. phenio_relaxed_subqs.owl MONDO:0015605 biolink:NamedThing distal monosomy 9p Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma. phenio_relaxed_subqs.owl MONDO:0016433 biolink:NamedThing dysmorphism-short stature-deafness-disorder of sex development syndrome Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait. phenio_relaxed_subqs.owl MONDO:0017966 biolink:NamedThing 46,XY disorder of gonadal development phenio_relaxed_subqs.owl MONDO:0017969 biolink:NamedThing 46,XY disorder of sex development of endocrine origin phenio_relaxed_subqs.owl MONDO:0018846 biolink:NamedThing penile agenesis An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities. phenio_relaxed_subqs.owl NCIT:C127171 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_8234004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98085 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751825 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013065 biolink:NamedThing premature ovarian failure 7 Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene. phenio_relaxed_subqs.owl OBO:MESH_C567838 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612964 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751830 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110653 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567842 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612955 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751842 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013060 biolink:NamedThing autosomal recessive Parkinson disease 14 A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. phenio_relaxed_subqs.owl DOID:0060900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012568 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567844 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612953 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720466001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:199351 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751843 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013199 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567845 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612951 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720825005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:85136 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751855 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013056 biolink:NamedThing developmental and epileptic encephalopathy, 39 A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease. phenio_relaxed_subqs.owl UMLS:C4512050 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080349 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567847 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612949 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_726702005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:353217 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751864 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010683 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C548086 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612948 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751870 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567849 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612947 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751938 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567853 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603513 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:619026 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2751987 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013051 biolink:NamedThing autosomal recessive cutis laxa type 2B Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. phenio_relaxed_subqs.owl DOID:0070137 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001641 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567855 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612940 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:357064 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2752007 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013049 biolink:NamedThing DPM3-CDG DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy. phenio_relaxed_subqs.owl OBO:GARD_0012395 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567857 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612937 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_725044000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:263494 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2752008 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013048 biolink:NamedThing hereditary spastic paraplegia 50 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene. phenio_relaxed_subqs.owl DOID:0110802 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567858 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612936 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2752015 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013968 biolink:NamedThing PGM1-CDG phenio_relaxed_subqs.owl DOID:0080570 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004329 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567859 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614921 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:319646 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2752027 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002125 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567861 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612932 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99849 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2752041 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013039 biolink:NamedThing 3M syndrome 2 Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene. phenio_relaxed_subqs.owl OBO:MESH_C567862 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612921 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2752042 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080351 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010939 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567863 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612918 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719475006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:140944 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2752043 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567864 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612917 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2752061 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567867 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612900 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2752074 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008759 biolink:NamedThing oxoglutaricaciduria Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder, resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases. phenio_relaxed_subqs.owl OBO:GARD_0000617 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536582 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:203740 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733630004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:31 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2752147 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110844 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005626 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567886 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C114770 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:278720 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_25784009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:276255 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2828721 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013737 biolink:NamedThing hereditary spastic paraplegia 46 A rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase. phenio_relaxed_subqs.owl UMLS:C4510081 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110798 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614409 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723822009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:320391 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2919304 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009603 biolink:NamedThing 3-hydroxyisobutyryl-CoA hydrolase deficiency Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established. phenio_relaxed_subqs.owl OBO:SCTID_444756000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2919755 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_445338005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0004893 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2919796 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN069618 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205860 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007864 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538655 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:232200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_444707001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79258 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930799 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019028 biolink:NamedThing amoebiasis due to Entamoeba histolytica A parasitic disease caused by the protozoa, Entamoeba histolytica, mainly occurring in tropical regions after the ingestion of an amoebic cyst, and resulting in clinical manifestations that may range from an asymptomatic state to amoebic colitis (violent abdominal pain, a painful contracted feeling around the anal sphincter, blood and mucus in the stools but without the presence of fever), or amoebic liver abscesses (fever, chills, abdominal pain, weight loss, hepatomegaly) that can be fatal if not immediately treated. Extraintestinal involvement elsewhere (i.e. thoracic, hepatic) is extremely rare. phenio_relaxed_subqs.owl OBO:MESH_C531613 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:67 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930802 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005824 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C531622 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:107320 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930846 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C531834 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930859 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535269 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930867 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007587 biolink:NamedThing external auditory canal atresia-vertical talus-hypertelorism syndrome phenio_relaxed_subqs.owl OBO:GARD_0004638 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:133705 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3023 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930874 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0022321 biolink:NamedThing 2-methylacetoacetyl CoA thiolase deficiency phenio_relaxed_subqs.owl OBO:GARD_0008382 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535307 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930876 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008242 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535321 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930877 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535335 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018467 biolink:NamedThing nephropathic infantile cystinosis Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes. phenio_relaxed_subqs.owl NCIT:C129932 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:219800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930897 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000852 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001536 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535427 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1492 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000870 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535435 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011423 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2E Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed. phenio_relaxed_subqs.owl ORPHA:207063 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930901 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0022567 biolink:NamedThing bhaskar jagannathan syndrome phenio_relaxed_subqs.owl OBO:MESH_C535437 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930902 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000878 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535438 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930912 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002373 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535481 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930917 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015725 biolink:NamedThing mosaic trisomy 14 Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction ; failure to to thrive ; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual. phenio_relaxed_subqs.owl OBO:GARD_0001327 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535489 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C116319 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764466009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1703 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930928 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001265 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535552 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:118350 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930929 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021726 biolink:NamedThing abdominal cystic lymphangioma Abdominal cystic lymphangioma is a benign (noncancerous) malformation of the lymphatic vessels in the abdomen. These vessels carry lymph, a fluid that contains white blood cells that fight infection, throughout the body. The severity of the condition and the associated features vary from person to person. When present, signs and symptoms may include abdominal pain, an increase in waist circumference, an abdominal mass, intestinal obstruction, and/or volvulus (a twisting of the intestines). The cause of abdominal cystic lymphangioma is poorly understood; however, scientists suspect that it is a congenital anomaly. Most cases are diagnosed in people with no family history of the condition. Treatment varies based on the severity of the condition. People with small malformations that do not cause any symptoms may simply be followed with regular imaging studies to monitor for progression. Some of these cases may resolve spontaneously without treatment. When necessary, surgical excision is often the treatment of choice since it is associated with the lowest risk of recurrence.. phenio_relaxed_subqs.owl OBO:GARD_0000439 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535553 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930930 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060611 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535554 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011566 biolink:NamedThing abdominal obesity-metabolic syndrome quantitative trait locus 2 phenio_relaxed_subqs.owl MONDO:0032837 biolink:NamedThing abdominal obesity-metabolic syndrome 4 phenio_relaxed_subqs.owl OBO:OMIMPS_605552 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930937 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0022067 biolink:NamedThing Cantu sanchez-corona fragoso syndrome phenio_relaxed_subqs.owl OBO:GARD_0001081 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535571 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930940 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001117 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535585 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930947 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001913 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535603 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930951 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000586 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535616 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930953 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000280 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535621 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721147000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1809 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930954 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016750 biolink:NamedThing microcephaly-cleft palate syndrome Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983. phenio_relaxed_subqs.owl OBO:GARD_0008623 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535622 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719394002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2521 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930955 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002589 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535624 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:207740 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2926 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930957 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204401 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535630 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:340 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930960 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010111 biolink:NamedThing odontotrichomelic syndrome Odontotrichomelic syndrome is characterised by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive. phenio_relaxed_subqs.owl UMLS:CN074199 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002381 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535637 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:273400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_239028001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2723 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930961 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002383 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535638 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:267900 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930965 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002435 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535646 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930966 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006484 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535647 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930979 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004712 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535676 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930993 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001918 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535719 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2930997 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080555 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009829 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535741 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126869 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603147 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_709412006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79320 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931001 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011783 biolink:NamedThing ALG12-CDG A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33). phenio_relaxed_subqs.owl DOID:0080559 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009833 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535745 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126873 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607143 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_711155008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79324 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931002 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011969 biolink:NamedThing ALG8-CDG A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation. phenio_relaxed_subqs.owl DOID:0080560 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009834 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535746 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608104 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720977000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79325 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931004 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011964 biolink:NamedThing DPAGT1-CDG DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3). phenio_relaxed_subqs.owl DOID:0080562 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009837 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535748 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126874 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608093 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_725079003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:86309 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931005 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012052 biolink:NamedThing ALG1-CDG A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3). phenio_relaxed_subqs.owl DOID:0080563 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009838 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535749 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608540 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720941007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79327 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931006 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012117 biolink:NamedThing ALG9-CDG A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23). phenio_relaxed_subqs.owl DOID:0080564 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009839 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535750 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608776 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720978005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79328 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931007 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014271 biolink:NamedThing STT3B-CDG STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1). phenio_relaxed_subqs.owl DOID:0080573 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535751 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615597 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733112007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:370924 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931008 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008908 biolink:NamedThing MGAT2-CDG MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21). phenio_relaxed_subqs.owl DOID:0070253 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009828 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535752 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:212066 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724142005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79329 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931009 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011772 biolink:NamedThing B4GALT1-CDG B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase. phenio_relaxed_subqs.owl DOID:0070256 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009841 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535753 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607091 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_725587007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79332 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931013 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535765 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:219750 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:411641 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931016 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004345 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535774 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931024 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016819 biolink:NamedThing Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome This syndrome is characterized by the association of MC6bius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism. phenio_relaxed_subqs.owl ORPHA:2560 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931026 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003704 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535810 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720850008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1433 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931035 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012580 biolink:NamedThing hereditary pulmonary alveolar proteinosis Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure. phenio_relaxed_subqs.owl OBO:GARD_0004582 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535832 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013712 biolink:NamedThing surfactant metabolism dysfunction, pulmonary, 5 Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene. phenio_relaxed_subqs.owl MONDO:0014206 biolink:NamedThing severe early-onset pulmonary alveolar proteinosis due to MARS deficiency phenio_relaxed_subqs.owl MONDO:0016323 biolink:NamedThing chronic respiratory distress with surfactant metabolism deficiency phenio_relaxed_subqs.owl MONDO:0018603 biolink:NamedThing interstitial lung disease due to SP-C deficiency phenio_relaxed_subqs.owl MONDO:0024465 biolink:NamedThing surfactant metabolism dysfunction, pulmonary, 2 phenio_relaxed_subqs.owl OBO:OMIMPS_265120 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_707442002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:264675 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931036 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000253 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535835 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931038 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004206 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535837 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C43298 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:260350 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715414009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1333 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931040 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004208 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535839 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931042 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007700 biolink:NamedThing hawkinsinuria Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine. phenio_relaxed_subqs.owl DOID:0111362 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005668 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535845 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:140350 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_414380008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2118 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931048 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008974 biolink:NamedThing Greenberg dysplasia A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable. phenio_relaxed_subqs.owl UMLS:CN199524 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111588 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008754 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535858 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:215140 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_389261002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1426 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931052 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004745 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535877 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:180850 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931054 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003055 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535885 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931063 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004025 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535922 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931064 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010710 biolink:NamedThing Pierre Robin syndrome-faciodigital anomaly syndrome This syndrome is characterised by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal. phenio_relaxed_subqs.owl OBO:GARD_0001274 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535926 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:311895 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723461007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2888 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931067 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN776838 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070224 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009803 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615878 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:480483 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931071 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011524 biolink:NamedThing Dianzani autoimmune lymphoproliferative disease Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly. phenio_relaxed_subqs.owl OBO:GARD_0009797 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535950 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605233 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721093000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:275523 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931072 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090017 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002137 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535955 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:226670 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723308003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:257 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931073 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227672 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009246 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535964 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93421 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931075 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009972 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535977 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931076 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0022932 biolink:NamedThing Davenport-Donlan syndrome An n-of-1 disease characterized by hearing loss, almost white hair, a psoriasiform rash with hyperkaratotic papillomata, muscle contractures, and depressed granulocyte and monocyte chemotaxis, dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and muscle contractures, and depressed granulocyte and monocyte chemotaxis. This is an n-of-1 use case where only one patient or family has been described with this disorder. phenio_relaxed_subqs.owl OBO:GARD_0001672 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535988 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3215 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931077 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0022934 biolink:NamedThing Davis Lafer syndrome phenio_relaxed_subqs.owl OBO:GARD_0001674 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535989 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931078 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535991 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931088 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003397 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536023 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931089 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003404 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536027 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931090 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003407 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536031 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931096 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017197 biolink:NamedThing osteopathia striata-pigmentary dermopathy-white forelock syndrome Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterised by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock. phenio_relaxed_subqs.owl OBO:GARD_0005562 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536054 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2779 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931104 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050779 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006683 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536079 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013585 biolink:NamedThing hydrolethalus syndrome 2 Any hydrolethalus syndrome in which the cause of the disease is a mutation in the KIF7 gene. phenio_relaxed_subqs.owl OBO:OMIMPS_236680 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721232000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000033 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2189 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931120 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0043127 biolink:NamedThing mehta lewis patton syndrome phenio_relaxed_subqs.owl OBO:GARD_0003450 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536147 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931123 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011881 biolink:NamedThing keratosis palmoplantaris striata 3 Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene. phenio_relaxed_subqs.owl OBO:GARD_0009173 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536163 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607654 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931126 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002282 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536179 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931127 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002063 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536187 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931128 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0023059 biolink:NamedThing Elliott ludman Teebi syndrome phenio_relaxed_subqs.owl OBO:GARD_0000189 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536204 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931130 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0030914 biolink:NamedThing Clark-Baraitser syndrome phenio_relaxed_subqs.owl UMLS:CN593636 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080234 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009994 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536208 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300602 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617752 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:600731 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931132 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008683 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536213 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606785 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_68067009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79235 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931171 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019433 biolink:NamedThing oligoarticular juvenile idiopathic arthritis Oligoarticular juvenile arthritis is the most common form of juvenile idiopathic arthritis (JIA), representing nearly 50% of cases. phenio_relaxed_subqs.owl UMLS:C3898105 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004261 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536312 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016615 biolink:NamedThing oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies phenio_relaxed_subqs.owl MONDO:0016616 biolink:NamedThing oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies phenio_relaxed_subqs.owl NCIT:C119032 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1002019 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:85410 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931172 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004262 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536313 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931176 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005489 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536346 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:193005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931184 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002228 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536387 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:227320 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931186 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0043154 biolink:NamedThing neonatal ovarian cyst phenio_relaxed_subqs.owl OBO:GARD_0003934 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536396 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931188 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003945 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536403 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931220 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005160 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536504 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:273490 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3311 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931222 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002034 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536511 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931225 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018043 biolink:NamedThing Thomas syndrome Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive. phenio_relaxed_subqs.owl OBO:GARD_0005175 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536514 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716740009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3316 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931228 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111766 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008498 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:314390 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931238 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005288 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536562 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:190600 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931239 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005376 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536565 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3357 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931246 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012574 biolink:NamedThing Potocki-Lupski syndrome 17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioural problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated. phenio_relaxed_subqs.owl DOID:0060853 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010145 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C124846 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610883 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_734016004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1713 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931251 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536584 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931257 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007088 biolink:NamedThing Alzheimer disease type 1 phenio_relaxed_subqs.owl DOID:0080348 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009465 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931262 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009423 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536609 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931263 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0031037 biolink:NamedThing famililal cerebral cavernous malformations A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages. phenio_relaxed_subqs.owl MONDO:0020724 biolink:NamedThing cerebral cavernous malformation 1 phenio_relaxed_subqs.owl OBO:OMIMPS_116860 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717003001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:221061 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931266 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000161 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536617 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931271 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000246 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536633 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718095000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:63862 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931273 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000255 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536635 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931275 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000256 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536639 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931276 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010043 biolink:NamedThing hereditary spastic paraplegia 17 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene. phenio_relaxed_subqs.owl UMLS:CN074197 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110770 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004219 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536644 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:270685 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100998 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931279 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009312 biolink:NamedThing lipodystrophy due to peptidic growth factors deficiency Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk). phenio_relaxed_subqs.owl OBO:GARD_0004280 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012604 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565529 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:233805 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724176001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1979 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931284 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000324 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536673 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931289 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000392 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536688 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931291 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010732 biolink:NamedThing spastic paraparesis-deafness syndrome Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterised by spastic paraparesis (beginning at about 10 years of age) and hearing deficits. phenio_relaxed_subqs.owl OBO:GARD_0005555 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536692 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:312910 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715504003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2815 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931298 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000340 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536721 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931300 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0043071 biolink:NamedThing Zazam Sheriff Phillips syndrome phenio_relaxed_subqs.owl OBO:GARD_0000339 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536723 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931301 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0043069 biolink:NamedThing Zerres Rietschel Majewski syndrome phenio_relaxed_subqs.owl OBO:GARD_0000338 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536724 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931333 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536803 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931342 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536814 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931345 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0023258 biolink:NamedThing glycogen storage disease type 1 due to SLC37A4 mutation Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene. phenio_relaxed_subqs.owl OBO:GARD_0002501 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536831 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931351 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008516 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536848 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931355 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008437 biolink:NamedThing hereditary spastic paraplegia 3A Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATL1 gene. phenio_relaxed_subqs.owl DOID:0110791 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005041 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536864 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C142893 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:182600 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100984 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931361 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536893 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931364 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018046 biolink:NamedThing thrombocytopenia-robin sequence syndrome phenio_relaxed_subqs.owl OBO:GARD_0005193 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536898 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3323 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931365 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005195 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536900 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3324 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931385 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000171 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536997 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931392 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000191 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537010 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1137 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931393 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003080 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537011 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931394 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0023543 biolink:NamedThing Katsantoni-Papadakou-Lagoyanni syndrome phenio_relaxed_subqs.owl OBO:GARD_0003081 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537012 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931397 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0023561 biolink:NamedThing Koone-Rizzo-Elias syndrome phenio_relaxed_subqs.owl OBO:GARD_0003131 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537023 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931399 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0023563 biolink:NamedThing Kotzot-Richter syndrome phenio_relaxed_subqs.owl OBO:GARD_0003134 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537025 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:203285 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931404 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3494506 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080053 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005770 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007486 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537045 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129721 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:103580 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_58833000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79443 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931405 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000417 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000831 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537049 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931412 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002351 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537069 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720956003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2048 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931416 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0023129 biolink:NamedThing Fara Chlupackova syndrome phenio_relaxed_subqs.owl OBO:GARD_0002273 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537074 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931417 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537076 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931419 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000954 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537083 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931421 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007231 biolink:NamedThing brachytelephalangy-dysmorphism-Kallmann syndrome Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986. phenio_relaxed_subqs.owl OBO:MESH_C537101 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:113480 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1295 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931430 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004213 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537164 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931437 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004747 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537190 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931438 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000210 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537192 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931439 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000311 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537193 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931442 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000315 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537219 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931443 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000317 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537222 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931444 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004752 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537223 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_726083008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2351 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931448 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000151 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537230 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931449 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000152 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537231 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931450 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000153 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537232 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931451 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000154 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537233 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931457 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000149 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537244 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931460 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003172 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537266 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931463 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002371 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537272 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931465 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537282 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931483 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2890 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931484 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017331 biolink:NamedThing Pilotto syndrome Pilotto syndrome is a rare genetic multiple developmental anomalies syndrome, that is characterized by craniofacial anomalies (microcephaly, brachycephaly, craniosynostosis, facial asymmetry, cleft lip, cleft palate, dysmorphic facial features, ear lobe malformations, low hair line), congenital heart defects, hypogenitalism and/or hypogonadism, intellectual disability, scoliosis or kyphoscoliosis, short hypoplastic ribs, failure to thrive, growth delay, short stature and/or micromelia. There have been no further descriptions in the literature since 1975. phenio_relaxed_subqs.owl OBO:GARD_0004368 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537400 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2894 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931485 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004369 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537402 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3353 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931486 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537408 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931487 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008558 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537413 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931491 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009223 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537428 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931492 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000366 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537431 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931494 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021923 biolink:NamedThing Arroyo Garcia Cimadevilla syndrome A syndrome characterized by bilateral anophthalmia (absence of one or both eyes), esophageal atresia (the upper esophagus ends and does not connect with the lower esophagus and stomach), and cryptorchidism (a condition in which one or both of the testes fail to descend from the abdomen into the scrotum). This is an n-of-1 use case where only one patient or family has been described with this disorder. phenio_relaxed_subqs.owl OBO:GARD_0000771 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537439 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931495 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000781 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537442 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931499 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003545 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537461 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931502 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000357 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003657 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537469 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:251800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931503 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003670 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537473 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931505 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015995 biolink:NamedThing melorheostosis with osteopoikilosis Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. phenio_relaxed_subqs.owl UMLS:CN200621 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003690 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003800 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1879 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931508 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005015 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537490 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723583009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3196 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931511 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003136 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537506 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931512 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003139 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537508 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931513 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0023571 biolink:NamedThing Kozlowski Rafinski Klicharska syndrome phenio_relaxed_subqs.owl OBO:GARD_0003140 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537509 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931519 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004387 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537518 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931532 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0043141 biolink:NamedThing microdontia hypodontia short stature phenio_relaxed_subqs.owl OBO:GARD_0003638 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537553 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931533 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003040 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537561 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931535 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000303 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537572 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931537 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0043131 biolink:NamedThing michels caskey syndrome phenio_relaxed_subqs.owl OBO:GARD_0003590 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537576 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931544 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004823 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537597 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931546 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000353 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537614 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931548 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001102 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537616 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720609003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1345 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931549 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003143 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537618 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931550 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003144 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537619 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931580 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0022552 biolink:NamedThing Bazopoulou Kyrkanidou syndrome phenio_relaxed_subqs.owl OBO:MESH_C537664 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931581 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537665 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931590 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0023521 biolink:NamedThing Judge Misch wright syndrome phenio_relaxed_subqs.owl OBO:GARD_0003061 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537692 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931597 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000173 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537721 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:248010 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931598 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000174 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537722 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931615 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009216 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537795 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931616 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000398 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537796 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931617 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017275 biolink:NamedThing spastic paraplegia-facial-cutaneous lesions syndrome Spastic paraplegia-facial-cutaneous lesions syndrome is a complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982. phenio_relaxed_subqs.owl OBO:GARD_0000806 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537797 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763403007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2819 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931646 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004034 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:257790 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716174001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2720 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931647 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537869 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:272450 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2654 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931651 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003201 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537882 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931653 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000066 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004497 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537290 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:233500 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612289 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_205800003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2095 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2963 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931656 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004306 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537890 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931657 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0043174 biolink:NamedThing Pfeiffer Tietze Welte syndrome phenio_relaxed_subqs.owl OBO:GARD_0004308 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537891 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931659 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000808 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537899 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931667 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008440 biolink:NamedThing spastic paraplegia-nephritis-deafness syndrome This syndrome is characterised by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy. phenio_relaxed_subqs.owl OBO:GARD_0002342 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537937 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:182690 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2820 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931677 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0022060 biolink:NamedThing calloso-genital dysplasia phenio_relaxed_subqs.owl OBO:GARD_0001055 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537962 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931682 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001070 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537973 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931683 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008748 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537978 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606631 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931686 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007311 biolink:NamedThing Charcot-Marie-Tooth disease type 1E A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients. phenio_relaxed_subqs.owl DOID:0110153 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009190 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537986 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:118300 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90658 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931687 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002003 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002031 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537995 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009676 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2B Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed. phenio_relaxed_subqs.owl MONDO:0016049 biolink:NamedThing congenital myopathy, Paradas type Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development. phenio_relaxed_subqs.owl MONDO:0024545 biolink:NamedThing Miyoshi muscular dystrophy 1 Any Miyoshi myopathy in which the cause of the disease is a mutation in the DYSF gene. phenio_relaxed_subqs.owl ORPHA:207073 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931691 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002040 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538016 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931717 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009779 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538054 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931718 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010125 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538059 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931722 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016386 biolink:NamedThing hypogonadotropic hypogonadism-retinitis pigmentosa syndrome This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents. phenio_relaxed_subqs.owl OBO:MESH_C538075 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2235 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931733 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004195 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538100 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931737 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016016 biolink:NamedThing toluene embryopathy Toluene embryopathy is a neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome. phenio_relaxed_subqs.owl OBO:GARD_0002672 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538114 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1920 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931740 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003151 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538125 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931741 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003152 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538126 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931750 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011008 biolink:NamedThing cleft lip/palate-intestinal malrotation-cardiopathy syndrome Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997. phenio_relaxed_subqs.owl OBO:GARD_0003430 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538160 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601165 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719456001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931766 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002418 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538194 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0035406 biolink:NamedThing furuncular myiasis due to Dermatobia hominis phenio_relaxed_subqs.owl MONDO:0035407 biolink:NamedThing furuncular myiasis due to Cordylobia anthropophaga phenio_relaxed_subqs.owl MONDO:0035408 biolink:NamedThing furuncular myiasis due to Cordylobia rodhaini phenio_relaxed_subqs.owl ORPHA:591 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931773 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538206 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931777 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002447 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538221 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601446 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931785 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14203 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006805 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C000598745 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27576 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_1212005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000557 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93672 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931788 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080301 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006240 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008702 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D065766 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012350 biolink:NamedThing complement factor H deficiency phenio_relaxed_subqs.owl MONDO:0014005 biolink:NamedThing immunoglobulin-mediated membranoproliferative glomerulonephritis Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation. phenio_relaxed_subqs.owl MONDO:0018159 biolink:NamedThing atypical hemolytic-uremic syndrome with DGKE deficiency phenio_relaxed_subqs.owl MONDO:0019738 biolink:NamedThing atypical hemolytic-uremic syndrome with H factor anomaly phenio_relaxed_subqs.owl MONDO:0019739 biolink:NamedThing atypical hemolytic-uremic syndrome with anti-factor H antibodies phenio_relaxed_subqs.owl MONDO:0035290 biolink:NamedThing atypical hemolytic uremic syndrome with complement gene abnormality phenio_relaxed_subqs.owl NCIT:C123223 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2134 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931789 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016051 biolink:NamedThing cleft lip-retinopathy syndrome Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy. phenio_relaxed_subqs.owl OBO:GARD_0000435 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538272 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1995 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931817 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111704 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010202 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538317 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129021 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600430 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702357000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931819 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001266 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538325 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931823 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000137 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538340 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931833 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011153 biolink:NamedThing hyperinsulinemic hypoglycemia, familial, 2 Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene. phenio_relaxed_subqs.owl DOID:0070218 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009927 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017185 biolink:NamedThing autosomal dominant hyperinsulinism due to Kir6.2 deficiency Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism). phenio_relaxed_subqs.owl MONDO:0017188 biolink:NamedThing diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency phenio_relaxed_subqs.owl MONDO:0019334 biolink:NamedThing autosomal recessive hyperinsulinism due to Kir6.2 deficiency phenio_relaxed_subqs.owl OMIM:601820 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931835 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080543 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006710 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538385 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:239510 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717181004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79101 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931870 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018829 biolink:NamedThing familial schizencephaly An instance of schizencephaly that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl UMLS:CN776926 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538514 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:481986 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931872 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019366 biolink:NamedThing free sialic acid storage disease Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD). phenio_relaxed_subqs.owl UMLS:CN206051 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010870 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538523 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010027 biolink:NamedThing free sialic acid storage disease, infantile form phenio_relaxed_subqs.owl MONDO:0017737 biolink:NamedThing intermediate severe Salla disease phenio_relaxed_subqs.owl ORPHA:834 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2931875 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008748 biolink:NamedThing Hermansky-Pudlak syndrome 1 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene. phenio_relaxed_subqs.owl DOID:0060539 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538539 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C150367 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:203300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2932715 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080222 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010680 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C548075 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603233 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:94089 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2932716 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010681 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C548076 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612462 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717792007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79444 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2932717 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206737 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010682 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C548077 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:203330 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_42183005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:94090 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2936403 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017576 biolink:NamedThing 46,XX disorder of sex development Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures. phenio_relaxed_subqs.owl UMLS:CN776919 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D058489 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017573 biolink:NamedThing 46,XX disorder of sex development-anorectal anomalies syndrome 46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut. phenio_relaxed_subqs.owl MONDO:0017961 biolink:NamedThing 46,XX disorder of gonadal development phenio_relaxed_subqs.owl MONDO:0020039 biolink:NamedThing 46,XX disorder of sex development induced by androgens excess phenio_relaxed_subqs.owl NCIT:C127169 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_8800006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2982 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2936419 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0100249 biolink:NamedThing 46,XX testicular disorder of sex development 46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency. phenio_relaxed_subqs.owl UMLS:CN205000 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111760 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000399 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D058531 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010442 biolink:NamedThing 46,XX sex reversal 3 phenio_relaxed_subqs.owl MONDO:0060489 biolink:NamedThing 46,XX sex reversal 4 phenio_relaxed_subqs.owl MONDO:0100250 biolink:NamedThing 46,XX sex reversal 1 phenio_relaxed_subqs.owl NCIT:C127170 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:393 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2936741 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015028 biolink:NamedThing 48,XXYY syndrome The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males. phenio_relaxed_subqs.owl OBO:GARD_0005677 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C89801 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_403760006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:10 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2936793 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013241 biolink:NamedThing spinocerebellar ataxia type 30 Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by a slowly progressive and relatively pure ataxia. phenio_relaxed_subqs.owl UMLS:C4304845 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050979 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004950 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C575214 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613371 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719253007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:211017 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2936826 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011730 biolink:NamedThing fumaric aciduria Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment. phenio_relaxed_subqs.owl DOID:0111261 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006476 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538191 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606812 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237983002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:24 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2936828 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021727 biolink:NamedThing aberrant subclavian artery Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is oftendiscovered as an incidental finding (such as througha barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in childrenmay present asfeeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies.. phenio_relaxed_subqs.owl OBO:GARD_0005706 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535555 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_93353003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2936859 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050769 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003902 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536108 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:310465 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723410002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2608 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2936860 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011992 biolink:NamedThing hereditary spastic paraplegia 25 Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1. phenio_relaxed_subqs.owl UMLS:C4518003 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110776 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009582 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536861 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608220 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_732933009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2936861 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009025 biolink:NamedThing apparent mineralocorticoid excess Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism. phenio_relaxed_subqs.owl UMLS:C3887949 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203981 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090121 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000433 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537422 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131083 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:218030 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_703256004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:320 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2936862 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110123 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000820 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537909 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:209900 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009021 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2936863 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110124 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000821 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537910 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615981 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2936864 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110126 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000823 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537912 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615982 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009024 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2936879 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013132 biolink:NamedThing hereditary spastic paraplegia 36 Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy. phenio_relaxed_subqs.owl UMLS:C4510078 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110787 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567930 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613096 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723819007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:320365 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2936880 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012766 biolink:NamedThing hereditary spastic paraplegia 37 Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients. phenio_relaxed_subqs.owl DOID:0110788 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567931 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611945 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763369007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:171612 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2936907 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060536 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003908 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537475 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0100134 biolink:NamedThing mitochondrial complex I deficiency, mitochondrial type phenio_relaxed_subqs.owl MONDO:0100223 biolink:NamedThing mitochondrial complex I deficiency, nuclear type phenio_relaxed_subqs.owl ORPHA:2609 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2937288 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008569 biolink:NamedThing thyroid hormone resistance, generalized, autosomal dominant phenio_relaxed_subqs.owl OBO:MESH_C567934 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:188570 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2939465 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2862 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005955 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C98933 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_62403005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007287 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2940785 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012360 biolink:NamedThing congenital nongoitrous hypothryoidism 3 A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has material basis in variation in the chromosome region 15q25.3-q26.1. phenio_relaxed_subqs.owl DOID:0070127 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567935 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609893 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2945558 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0030720 biolink:NamedThing trichomonal vulvovaginitis An vulvovaginitis caused by infection with Trichomonas vaginalis. phenio_relaxed_subqs.owl OBO:ICD9_131.01 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_81598001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2974016 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002467 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537803 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2979888 biolink:NamedThing phenio_relaxed_subqs.owl DOID:10784 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_082.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_68981009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2980104 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024268 biolink:NamedThing superficial mycosis A mycosis that is limited to the stratum corneum and essentially elicits no inflammation. phenio_relaxed_subqs.owl DOID:0050133 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_276206000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2981141 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C26942 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_190309006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000827 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2985290 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN036067 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200663 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050696 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000599 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D063647 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000393 biolink:NamedThing partial fetal alcohol syndrome A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure. phenio_relaxed_subqs.owl MONDO:0000395 biolink:NamedThing alcohol-related birth defect A physical or cognitive mental abnormality caused by maternal alcohol consumption and its toxic effect on the developing embryo during pregnancy. phenio_relaxed_subqs.owl NCIT:C92780 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_609437000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2985524 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201468 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012252 biolink:NamedThing rhabdoid tumor predisposition syndrome 1 Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene. phenio_relaxed_subqs.owl NCIT:C93268 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_609322 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:231108 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2986550 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C94524 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_PTCY biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_608817003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000477 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:251623 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2986655 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021120 biolink:NamedThing functioning endocrine neoplasm A hormone producing endocrine neoplasm, associated with a hormonal syndrome. phenio_relaxed_subqs.owl NCIT:C94759 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2986656 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021119 biolink:NamedThing non-functioning endocrine neoplasm A hormone producing or non-producing endocrine neoplasm, not associated with a hormonal syndrome. phenio_relaxed_subqs.owl NCIT:C94760 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2987127 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050626 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003523 biolink:NamedThing gastrin-producing neuroendocrine tumor A gastrin-producing neuroendocrine tumor. It is usually located in the pancreas but it is also found at other anatomic sites, including the stomach and small intestine. phenio_relaxed_subqs.owl MONDO:0004211 biolink:NamedThing L-cell glucagon-like peptide-producing neuroendocrine tumor A neuroendocrine tumor that arises from the gastrointestinal tract and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns. phenio_relaxed_subqs.owl MONDO:0015073 biolink:NamedThing gallbladder neuroendocrine tumor, grade 1/2 A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the gallbladder. phenio_relaxed_subqs.owl MONDO:0019954 biolink:NamedThing pancreatic neuroendocrine tumor Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma). phenio_relaxed_subqs.owl NCIT:C95404 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_GINET biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2987239 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C95582 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000442 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C2987240 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C95583 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000444 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3146244 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050668 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C92727 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3148763 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018098 biolink:NamedThing autosomal dominant limb-girdle muscular dystrophy type 1E (DES) Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions. phenio_relaxed_subqs.owl OBO:GARD_0012529 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:34517 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3148970 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605756 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3149378 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607594 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3149707 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:168830 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3149841 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008263 biolink:NamedThing polycystic kidney disease 1 Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene. phenio_relaxed_subqs.owl DOID:0110858 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536326 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:173900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_253878003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150127 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110137 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615992 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150156 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012757 biolink:NamedThing lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies. phenio_relaxed_subqs.owl OMIM:611926 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721977007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:137631 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150191 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012885 biolink:NamedThing SRD5A3-CDG SRD5A3-CDG is a rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation. phenio_relaxed_subqs.owl UMLS:C4317224 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080568 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012397 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612379 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733601006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:324737 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150207 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612692 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150215 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013025 biolink:NamedThing chromosome 6q24-q25 deletion syndrome 6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss. phenio_relaxed_subqs.owl UMLS:C4304527 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060424 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003764 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C36470 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612863 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719663005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:251056 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150274 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C119991 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:216950 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150275 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060295 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001452 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C119992 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:217000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150354 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:240500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150411 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013154 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation. phenio_relaxed_subqs.owl DOID:0111240 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126742 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613150 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150412 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013155 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 phenio_relaxed_subqs.owl OMIM:613151 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150413 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013157 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 phenio_relaxed_subqs.owl DOID:0111241 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613153 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150414 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013158 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life. phenio_relaxed_subqs.owl DOID:0111242 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126743 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613154 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150415 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013159 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 phenio_relaxed_subqs.owl OMIM:613155 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150416 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013160 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan. phenio_relaxed_subqs.owl NCIT:C126690 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613156 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150417 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013161 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2O Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia. phenio_relaxed_subqs.owl DOID:0110292 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012540 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613157 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:206564 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150418 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013162 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2N Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability. phenio_relaxed_subqs.owl DOID:0110298 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012539 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613158 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:206559 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150419 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111117 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613159 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150607 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013238 biolink:NamedThing chromosome 17q23.1-q23.2 deletion syndrome 17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities. phenio_relaxed_subqs.owl UMLS:C4304591 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060405 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010936 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613355 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719584008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261279 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150617 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111108 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613370 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_609577006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150618 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111109 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613375 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_609578001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150619 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013243 biolink:NamedThing neuronopathy, distal hereditary motor, type 2C Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene. phenio_relaxed_subqs.owl DOID:0111209 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613376 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150652 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013247 biolink:NamedThing Fanconi renotubular syndrome 2 Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene. phenio_relaxed_subqs.owl OMIM:613388 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150653 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111096 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613390 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150657 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613393 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150672 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013255 biolink:NamedThing arthrogryposis, renal dysfunction, and cholestasis 2 Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene. phenio_relaxed_subqs.owl DOID:0111354 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613404 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150674 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013256 biolink:NamedThing chromosome 15q24 deletion syndrome 15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies. phenio_relaxed_subqs.owl UMLS:CN237818 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060395 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012219 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C579849 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613406 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_699308002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:94065 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150679 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613412 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150701 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013267 biolink:NamedThing distal 16p11.2 microdeletion syndrome Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated. phenio_relaxed_subqs.owl UMLS:C4518824 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060398 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613444 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733521003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261222 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150706 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013271 biolink:NamedThing frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome phenio_relaxed_subqs.owl OBO:GARD_0012640 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613456 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:306542 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150707 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013272 biolink:NamedThing chromosome 14q11-q22 deletion syndrome 14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. phenio_relaxed_subqs.owl UMLS:C4304999 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060392 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613457 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719047001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261120 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150708 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4518796 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060431 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010755 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613458 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733473000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:96078 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150730 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013275 biolink:NamedThing hemolytic anemia due to glucophosphate isomerase deficiency Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia. phenio_relaxed_subqs.owl UMLS:CN072763 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002502 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613470 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:712 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150731 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080438 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613477 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150732 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013278 biolink:NamedThing lymphatic malformation 3 Any hereditary lymphedema in which the cause of the disease is a mutation in the GJC2 gene. phenio_relaxed_subqs.owl DOID:0070208 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613480 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150733 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110654 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613485 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150736 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013281 biolink:NamedThing COG4-CDG COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia. phenio_relaxed_subqs.owl DOID:0070262 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012412 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613489 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718751000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:263501 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150738 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613493 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150739 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613494 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150740 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613495 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150741 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613496 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150750 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060024 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150751 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613501 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150752 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613502 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150753 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080588 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613506 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150754 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050579 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613507 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717821004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:263297 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150756 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013292 biolink:NamedThing chromosome 4q21 deletion syndrome The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech. phenio_relaxed_subqs.owl UMLS:C4304530 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060420 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613509 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719660008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:238750 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150763 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013294 biolink:NamedThing atopic dermatitis 8 An atopic dermatitis associated with variation in the region 4q22.1. phenio_relaxed_subqs.owl DOID:0110104 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613518 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150764 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013295 biolink:NamedThing atopic dermatitis 9 An atopic dermatitis associated with variation in the region 3p24. phenio_relaxed_subqs.owl DOID:0110105 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613519 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150787 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013298 biolink:NamedThing chromosome 17q21.31 duplication syndrome The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent. phenio_relaxed_subqs.owl UMLS:C4274345 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060434 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613533 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716683005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:217340 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150790 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013299 biolink:NamedThing chromosome 6q11-q14 deletion syndrome phenio_relaxed_subqs.owl DOID:0060423 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613544 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150796 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111118 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613550 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150801 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013306 biolink:NamedThing combined oxidative phosphorylation defect type 7 Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life. phenio_relaxed_subqs.owl DOID:0111487 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613559 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763204003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:254930 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150802 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013307 biolink:NamedThing myopathy, lactic acidosis, and sideroblastic anemia 2 Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene. phenio_relaxed_subqs.owl DOID:0111186 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613561 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150803 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013308 biolink:NamedThing CBL-related disorder CBL-related disorder is a genetic condition caused by pathogenic variants in the Cbl ubiquitin ligase gene, (CBL; HGNC:1541). Due to the proposed mechanism indicating the CBL gene's relationship to the RAS-MAPK pathway and the phenotypic presentation similar to that of the RASopathies, CBL-related disorder should be considered a RASopathy disorder. Though there is a wide spectrum of phenotypic variability, broadly, patients with CBL-related disorder have presented with developmental delay, intellectual disability, neurodevelopmental alterations, prenatal lymphatic anomalies, cardiac malformations as well as vascular anomalies particularly affecting the brain (e.g. Moya-moya arteriopathies), craniofacial features indicative of a RASopathy, hypotonia, feeding difficulties, edema of the legs, musculoskeletal and respiratory thorax abnormalities, ectodermal features including cafe-au-lait spots, immunological and hematological disorders and susceptibility to tumors diagnosed as juvenile myelomonocytic leukemia (JMML) that is usually self-remitting. Note tumor risk beyond JMML has not yet been thoroughly assessed. Due to the clinical presentation of a broad spectrum of these and other phenotypes in patients with variants in CBL, these conditions are currently defined by experts in reference to the causal gene, CBL. phenio_relaxed_subqs.owl UMLS:C4016301 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613563 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:363972 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150804 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013309 biolink:NamedThing chromosome 2p12-p11.2 deletion syndrome phenio_relaxed_subqs.owl DOID:0060414 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613564 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150807 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024565 biolink:NamedThing ectodermal dysplasia-syndactyly syndrome 1 Any ectodermal dysplasia-syndactyly syndrome in which the cause of the disease is a mutation in the NECTIN4 gene. phenio_relaxed_subqs.owl OMIM:613573 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150809 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013313 biolink:NamedThing ectodermal dysplasia-cutaneous syndactyly syndrome phenio_relaxed_subqs.owl OMIM:613576 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:247827 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150852 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613601 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150857 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613603 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150858 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013320 biolink:NamedThing chromosome 16p12.2-p11.2 deletion syndrome 16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. phenio_relaxed_subqs.owl UMLS:C4304597 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060400 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613604 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719576009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261211 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150859 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613606 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150860 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013322 biolink:NamedThing epilepsy, familial adult myoclonic, 3 phenio_relaxed_subqs.owl DOID:0111695 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567098 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613608 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150874 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613610 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150875 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013324 biolink:NamedThing lymphedema-posterior choanal atresia syndrome phenio_relaxed_subqs.owl OMIM:613611 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99141 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150876 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070261 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001173 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012348 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613612 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721100009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:263487 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150877 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013326 biolink:NamedThing Senior-Loken syndrome 7 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene. phenio_relaxed_subqs.owl OMIM:613615 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150878 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111672 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010738 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C123214 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613616 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_734990008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93600 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150880 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013329 biolink:NamedThing familial clubfoot due to 17q23.1q23.2 microduplication 17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot. phenio_relaxed_subqs.owl OMIM:613618 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:238578 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150887 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613623 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150890 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613627 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719162001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150894 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013336 biolink:NamedThing chromosome 19p13.13 deletion syndrome 19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation). phenio_relaxed_subqs.owl UMLS:CN204595 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060426 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613638 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764440006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:357001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150896 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013337 biolink:NamedThing neuropathy, hereditary sensory and autonomic, type 1C A hereditary sensory and autonomic neuropathy type 1 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24. phenio_relaxed_subqs.owl DOID:0070157 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613640 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150897 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110204 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012454 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613641 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:254334 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150899 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013340 biolink:NamedThing Parkinson disease 5, autosomal dominant, susceptibility to Any young-onset Parkinson disease in which the cause of the disease is a mutation in the UCHL1 gene. phenio_relaxed_subqs.owl OMIM:613643 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150900 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060741 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613646 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:280183 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150901 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110800 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613647 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763367009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:306511 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150902 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013343 biolink:NamedThing C1Q deficiency C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a complex and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor. phenio_relaxed_subqs.owl OBO:GARD_0012958 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C119990 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613652 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150909 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111352 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613657 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150910 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN248515 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613658 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:618007 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720576001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:178506 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150913 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013349 biolink:NamedThing ALG11-CDG A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3). phenio_relaxed_subqs.owl DOID:0080567 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012396 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613661 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733085004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:280071 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150914 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013350 biolink:NamedThing mitochondrial DNA depletion syndrome 4b phenio_relaxed_subqs.owl DOID:0080123 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613662 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150924 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613671 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:562559 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150925 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013354 biolink:NamedThing spastic ataxia 4 Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene. phenio_relaxed_subqs.owl UMLS:CN230090 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050943 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010992 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613672 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:254343 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150933 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013359 biolink:NamedThing familial hyperaldosteronism type III Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia. phenio_relaxed_subqs.owl UMLS:C3838758 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012362 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613677 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_703234002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:251274 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150940 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203162 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060458 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613681 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:294026 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150941 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C153291 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613684 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:353284 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150942 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013366 biolink:NamedThing spondylocostal dysostosis 4, autosomal recessive Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the HES7 gene. phenio_relaxed_subqs.owl OBO:GARD_0004976 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613686 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150943 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110645 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003285 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563614 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C137957 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613688 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150953 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110648 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010434 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566333 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613693 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150966 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613700 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150970 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060585 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613706 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150971 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080550 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613707 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150972 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013381 biolink:NamedThing neuropathy, hereditary sensory, type 1D A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy that has material basis in heterozygous mutation in the ATL1 gene on chromosome 14q. phenio_relaxed_subqs.owl DOID:0070156 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613708 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150973 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013382 biolink:NamedThing progressive demyelinating neuropathy with bilateral striatal necrosis Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities. phenio_relaxed_subqs.owl OMIM:613710 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:217396 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150983 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613717 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150988 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080459 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013318 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613722 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150989 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013390 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2Q Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases. phenio_relaxed_subqs.owl DOID:0110285 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012542 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613723 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:254361 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150990 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012471 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613724 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:163684 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3150999 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013393 biolink:NamedThing distal 7q11.23 microdeletion syndrome Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression). phenio_relaxed_subqs.owl OMIM:613729 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:254351 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151000 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013394 biolink:NamedThing porencephaly-microcephaly-bilateral congenital cataract syndrome phenio_relaxed_subqs.owl OMIM:613730 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:306547 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151036 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013396 biolink:NamedThing chromosome 1p32-p31 deletion syndrome 1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures. phenio_relaxed_subqs.owl UMLS:CN226149 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060409 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613735 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_766766005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:401986 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151055 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050546 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566130 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131422 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613743 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:168558 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151056 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013401 biolink:NamedThing hereditary spastic paraplegia 51 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene. phenio_relaxed_subqs.owl DOID:0110803 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010999 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613744 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151057 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013403 biolink:NamedThing heterotaxy, visceral, 4, autosomal Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene. phenio_relaxed_subqs.owl OMIM:613751 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151058 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013404 biolink:NamedThing hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels. phenio_relaxed_subqs.owl UMLS:C4510276 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111039 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013177 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613752 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724039002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:88618 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151060 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013406 biolink:NamedThing age related macular degeneration 6 Any age-related macular degeneration in which the cause of the disease is a mutation in the RAX2 gene. phenio_relaxed_subqs.owl DOID:0110018 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563674 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613757 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151063 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013409 biolink:NamedThing age related macular degeneration 5 Any age-related macular degeneration in which the cause of the disease is a mutation in the ERCC6 gene. phenio_relaxed_subqs.owl DOID:0110028 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613761 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151064 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111769 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613762 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151069 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013415 biolink:NamedThing chromosome 17p13.1 deletion syndrome phenio_relaxed_subqs.owl DOID:0060402 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010996 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017867 biolink:NamedThing distal 17p13.1 microdeletion syndrome Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline. phenio_relaxed_subqs.owl OMIM:613776 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151070 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013416 biolink:NamedThing age related macular degeneration 8 Any age-related macular degeneration in which the cause of the disease is a mutation in the ARMS2 gene. phenio_relaxed_subqs.owl DOID:0110020 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613778 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151078 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565170 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613783 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151079 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013420 biolink:NamedThing age related macular degeneration 12 Any age-related macular degeneration in which the cause of the disease is a mutation in the CX3CR1 gene. phenio_relaxed_subqs.owl DOID:0110024 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613784 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151080 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060302 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010625 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613789 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151081 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060301 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010626 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613790 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151085 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013423 biolink:NamedThing immunodeficiency due to MASP-2 deficiency Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic. phenio_relaxed_subqs.owl OBO:MESH_C565360 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613791 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:331187 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151087 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070237 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010997 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613795 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:284984 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151097 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013428 biolink:NamedThing Meier-Gorlin syndrome 2 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene. phenio_relaxed_subqs.owl DOID:0080513 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151113 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013430 biolink:NamedThing Meier-Gorlin syndrome 3 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene. phenio_relaxed_subqs.owl DOID:0080514 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613803 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151120 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013431 biolink:NamedThing Meier-Gorlin syndrome 4 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDT1 gene. phenio_relaxed_subqs.owl DOID:0080515 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613804 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151126 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013432 biolink:NamedThing Meier-Gorlin syndrome 5 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene. phenio_relaxed_subqs.owl DOID:0080516 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613805 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151136 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110598 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613807 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151137 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110623 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613808 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151147 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013439 biolink:NamedThing congenital bile acid synthesis defect 3 Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease. phenio_relaxed_subqs.owl UMLS:C4304715 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111070 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566340 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613812 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719454003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79302 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151184 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110293 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012541 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613818 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:280333 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151185 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110088 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613819 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151186 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111119 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613820 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151187 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070012 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613823 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151188 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111120 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613824 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151189 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060303 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565165 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613825 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151201 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013452 biolink:NamedThing multisystemic smooth muscle dysfunction syndrome Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypo peristalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition insome individuals. phenio_relaxed_subqs.owl OBO:GARD_0012811 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613834 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:404463 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151209 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013458 biolink:NamedThing hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome phenio_relaxed_subqs.owl OMIM:613845 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:363694 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151219 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613852 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151226 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013467 biolink:NamedThing immunodeficiency due to ficolin3 deficiency phenio_relaxed_subqs.owl OMIM:613860 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_766705006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:331190 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151236 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013472 biolink:NamedThing fatal infantile hypertonic myofibrillar myopathy phenio_relaxed_subqs.owl DOID:0080309 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613869 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:280553 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151237 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563939 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613870 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151268 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070205 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012601 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613877 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:280356 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151295 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013480 biolink:NamedThing renal hypomagnesemia 6 phenio_relaxed_subqs.owl DOID:0060884 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012155 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613882 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151303 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563938 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613886 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151304 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013484 biolink:NamedThing cataract 36 Any cataract in which the cause of the disease is a mutation in the TDRD7 gene. phenio_relaxed_subqs.owl DOID:0110247 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613887 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151343 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013486 biolink:NamedThing spinocerebellar ataxia type 32 Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, cognitive impairment and azoospermia in males. phenio_relaxed_subqs.owl UMLS:C4304844 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613909 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719254001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:276183 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151347 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613913 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151355 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013490 biolink:NamedThing megalencephalic leukoencephalopathy with subcortical cysts 2A phenio_relaxed_subqs.owl DOID:0080318 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613925 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151356 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013491 biolink:NamedThing megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability phenio_relaxed_subqs.owl DOID:0080317 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613926 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151379 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613949 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151380 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013498 biolink:NamedThing schizophrenia 15 A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33. phenio_relaxed_subqs.owl DOID:0070091 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613950 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151403 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013501 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VCP gene. phenio_relaxed_subqs.owl DOID:0060205 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613954 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151404 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013502 biolink:NamedThing amyloidosis, primary localized cutaneous, 2 phenio_relaxed_subqs.owl OMIM:613955 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151408 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013506 biolink:NamedThing schizophrenia 16 A schizophrenia that has material basis in a mutation on chromosome 7q36.3. phenio_relaxed_subqs.owl DOID:0070092 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613959 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151409 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070194 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613960 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151410 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013508 biolink:NamedThing myopia 19, autosomal dominant phenio_relaxed_subqs.owl OMIM:613969 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151421 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017238 biolink:NamedThing hemoglobinopathy Toms River phenio_relaxed_subqs.owl OMIM:613977 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151440 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013518 biolink:NamedThing pituitary hormone deficiency, combined, 6 Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene. phenio_relaxed_subqs.owl OMIM:613986 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151441 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070017 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613987 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151442 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070019 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613988 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151443 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070016 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613989 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151445 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070018 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613990 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151446 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0011008 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:280576 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151460 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110613 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614017 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151465 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614024 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151466 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012864 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614025 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720940008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:140905 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151467 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111370 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566270 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614028 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151513 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009636 biolink:NamedThing mitochondrial DNA depletion syndrome 3 Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene. phenio_relaxed_subqs.owl UMLS:C4310935 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080121 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:251880 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:279934 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151519 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009667 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life. phenio_relaxed_subqs.owl DOID:0111236 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126740 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:253280 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151619 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:270500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151753 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010437 biolink:NamedThing severe X-linked mitochondrial encephalomyopathy Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date. phenio_relaxed_subqs.owl UMLS:C4302745 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111502 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300816 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722212004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:238329 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151782 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111762 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300833 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151857 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300845 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:280679 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151898 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:500009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:254864 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3151959 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004532 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564014 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:560000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3390 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3152055 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111351 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600721 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3152251 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:108980 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3160718 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060892 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008200 biolink:NamedThing autosomal dominant Parkinson disease 1 phenio_relaxed_subqs.owl MONDO:0014604 biolink:NamedThing Parkinson disease 21 Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the DNAJC13 gene. phenio_relaxed_subqs.owl OMIM:168600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716662004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:411602 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3160738 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111083 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C125706 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:227646 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3160739 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111084 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C125709 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600901 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3164279 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_447730004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3165028 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017866 biolink:NamedThing subpulmonary stenosis phenio_relaxed_subqs.owl OBO:GARD_0005051 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_448476001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3190 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3178805 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050545 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008832 biolink:NamedThing right atrial isomerism A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12. phenio_relaxed_subqs.owl MONDO:0010029 biolink:NamedThing situs inversus A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning). phenio_relaxed_subqs.owl MONDO:0013887 biolink:NamedThing heterotaxy, visceral, 6, autosomal phenio_relaxed_subqs.owl MONDO:0014762 biolink:NamedThing heterotaxy, visceral, 7, autosomal Any visceral heterotaxy in which the cause of the disease is a mutation in the MMP21 gene. phenio_relaxed_subqs.owl MONDO:0014967 biolink:NamedThing heterotaxy, visceral, 8, autosomal Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene. phenio_relaxed_subqs.owl MONDO:0015522 biolink:NamedThing situs ambiguus phenio_relaxed_subqs.owl MONDO:0015661 biolink:NamedThing dextrocardia A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects. phenio_relaxed_subqs.owl MONDO:0030070 biolink:NamedThing heterotaxy, visceral, 9, autosomal, with male infertility phenio_relaxed_subqs.owl MONDO:0030474 biolink:NamedThing heterotaxy, visceral, 10, autosomal, with male infertility phenio_relaxed_subqs.owl MONDO:0030475 biolink:NamedThing heterotaxy, visceral, 11, autosomal, with male infertility phenio_relaxed_subqs.owl NCIT:C117273 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_306955 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009081 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:450 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3179455 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009757 biolink:NamedThing Niemann-Pick disease, type C1 Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein. phenio_relaxed_subqs.owl DOID:0070113 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007207 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126864 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:257220 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_18927009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3180937 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014294 biolink:NamedThing chromosome 15q11.2 deletion syndrome 15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia). phenio_relaxed_subqs.owl DOID:0060393 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010525 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615656 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261183 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3203346 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562723 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:144050 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_79674009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3265932 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000952 biolink:NamedThing cancer of long bone of lower limb A cancer that involves the hindlimb long bone. phenio_relaxed_subqs.owl DOID:10149 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_C40.2 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_170.7 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003505 biolink:NamedThing femoral cancer A cancer involving a femur. phenio_relaxed_subqs.owl OBO:SCTID_449627008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3266026 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201378 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_449730005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:227990 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3267073 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3890737 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_M04-M04 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016662 biolink:NamedThing idiopathic recurrent pericarditis A rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication. phenio_relaxed_subqs.owl MONDO:0017954 biolink:NamedThing pyogenic autoinflammatory syndrome phenio_relaxed_subqs.owl MONDO:0017955 biolink:NamedThing granulomatous autoinflammatory syndrome phenio_relaxed_subqs.owl MONDO:0017958 biolink:NamedThing magic syndrome phenio_relaxed_subqs.owl MONDO:0018540 biolink:NamedThing PFAPA syndrome An auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis. phenio_relaxed_subqs.owl MONDO:0018782 biolink:NamedThing type 1 interferonopathy phenio_relaxed_subqs.owl MONDO:0019434 biolink:NamedThing systemic-onset juvenile idiopathic arthritis Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio. phenio_relaxed_subqs.owl MONDO:0035437 biolink:NamedThing CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported. phenio_relaxed_subqs.owl NCIT:C119050 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93665 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3267126 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016455 biolink:NamedThing virus-associated trichodysplasia spinulosa Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients. phenio_relaxed_subqs.owl ORPHA:228379 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3272399 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN197355 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018742 biolink:NamedThing familial gastric type 1 neuroendocrine tumor phenio_relaxed_subqs.owl MONDO:0024639 biolink:NamedThing gastric enterochromaffin cell serotonin-producing neuroendocrine tumor A well differentiated neuroendocrine tumor that arises from the stomach. It produces serotonin and it may occasionally be found in association with a carcinoid syndrome. phenio_relaxed_subqs.owl NCIT:C95871 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_SWDNET biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3272407 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C95880 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3272797 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0100290 biolink:NamedThing colon serrated polyposis The presence of multiple serrated polyps in the colon. The polyps are predominantly sessile serrated adenomas/polyps. A minority of the polyps are microvesicular variants of hyperplastic polyps. According to some authors, the polyps are proximal to the sigmoid colon. According to others, the polyps are distributed throughout the entire colon. phenio_relaxed_subqs.owl NCIT:C96470 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3273115 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C96917 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3273116 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN197366 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C96918 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100086 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3273225 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024237 biolink:NamedThing inherited neurodegenerative disorder An inherited disorder characterized by progressive degeneration and atrophy of the nervous system. phenio_relaxed_subqs.owl UMLS:CN200549 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020271 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000167 biolink:NamedThing Huntington disease and related disorders A grouping for Huntington disease and similar diseases. phenio_relaxed_subqs.owl MONDO:0001383 biolink:NamedThing degenerative myopia Excessive axial myopia associated with complications (especially posterior staphyloma and choroidal neovascularization) that can lead to blindness. phenio_relaxed_subqs.owl MONDO:0007104 biolink:NamedThing amyotrophic lateral sclerosis-parkinsonism-dementia complex phenio_relaxed_subqs.owl MONDO:0008023 biolink:NamedThing muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus. phenio_relaxed_subqs.owl MONDO:0009839 biolink:NamedThing progressive supranuclear palsy-parkinsonism syndrome PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. phenio_relaxed_subqs.owl MONDO:0011457 biolink:NamedThing ataxia-telangiectasia-like disorder An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia. phenio_relaxed_subqs.owl MONDO:0012638 biolink:NamedThing microphthalmia-brain atrophy syndrome Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter. phenio_relaxed_subqs.owl MONDO:0012956 biolink:NamedThing multiple sclerosis, susceptibility to, 2 phenio_relaxed_subqs.owl MONDO:0012957 biolink:NamedThing multiple sclerosis, susceptibility to, 3 phenio_relaxed_subqs.owl MONDO:0012958 biolink:NamedThing multiple sclerosis, susceptibility to, 4 phenio_relaxed_subqs.owl MONDO:0013110 biolink:NamedThing neurodegenerative syndrome due to cerebral folate transport deficiency phenio_relaxed_subqs.owl MONDO:0013584 biolink:NamedThing hereditary sensory neuropathy-deafness-dementia syndrome A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13. phenio_relaxed_subqs.owl MONDO:0013802 biolink:NamedThing infantile cerebellar-retinal degeneration Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms. phenio_relaxed_subqs.owl MONDO:0014176 biolink:NamedThing hypotonia, infantile, with psychomotor retardation and characteristic facies A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). phenio_relaxed_subqs.owl MONDO:0014402 biolink:NamedThing severe neurodegenerative syndrome with lipodystrophy phenio_relaxed_subqs.owl MONDO:0014719 biolink:NamedThing developmental and epileptic encephalopathy, 35 phenio_relaxed_subqs.owl MONDO:0014960 biolink:NamedThing encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy phenio_relaxed_subqs.owl MONDO:0015003 biolink:NamedThing dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities phenio_relaxed_subqs.owl MONDO:0017161 biolink:NamedThing frontotemporal dementia with motor neuron disease Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset. phenio_relaxed_subqs.owl MONDO:0017234 biolink:NamedThing inherited prion disease An instance of prion disease that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0018133 biolink:NamedThing attenuated Chédiak-Higashi syndrome Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. phenio_relaxed_subqs.owl MONDO:0018316 biolink:NamedThing fatal post-viral neurodegenerative disorder phenio_relaxed_subqs.owl MONDO:0018475 biolink:NamedThing PRKAR1B-related neurodegenerative dementia with intermediate filaments phenio_relaxed_subqs.owl MONDO:0018656 biolink:NamedThing tremor-ataxia-central hypomyelination syndrome phenio_relaxed_subqs.owl MONDO:0018696 biolink:NamedThing corticobasal syndrome Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction. phenio_relaxed_subqs.owl MONDO:0018705 biolink:NamedThing infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome phenio_relaxed_subqs.owl MONDO:0018820 biolink:NamedThing recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy. phenio_relaxed_subqs.owl MONDO:0018899 biolink:NamedThing posterior cortical atrophy Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities. phenio_relaxed_subqs.owl MONDO:0019064 biolink:NamedThing hereditary spastic paraplegia Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. phenio_relaxed_subqs.owl MONDO:0019405 biolink:NamedThing facial onset sensory and motor neuronopathy Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease. phenio_relaxed_subqs.owl MONDO:0019427 biolink:NamedThing X-linked neurodegenerative syndrome, Bertini type X-linked neurodegenerative syndrome, Bertini type is characterised by generalised hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter. phenio_relaxed_subqs.owl MONDO:0019429 biolink:NamedThing X-linked neurodegenerative syndrome, Hamel type X-linked neurodegenerative syndrome, Hamel type is an X-linked neurodegenerative disorder characterised by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12. phenio_relaxed_subqs.owl MONDO:0020248 biolink:NamedThing vitreoretinal degeneration phenio_relaxed_subqs.owl MONDO:0024257 biolink:NamedThing hereditary motor neuron disease An instance of motor neuron disease that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0030923 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis phenio_relaxed_subqs.owl MONDO:0035614 biolink:NamedThing sporadic fatal insomnia A rare sporadic human prion disease characterized by adult onset of progredient neurodegeneration presenting as a combination of psychiatric, sleep, and oculomotor disturbances, with development of progressive cognitive impairment (the predominantly affected cognitive domains being memory, temporal and/or spatial orientation, language, executive functions, and attention), postural instability, and sometimes additional motor abnormalities and autonomic hyperactivity, in the course of the disease. Bilateral thalamic hypometabolism on FDG-PET imaging and positive prion seeding activity in the cerebrospinal fluid are present in many cases. The disease is fatal within typically two to three years. phenio_relaxed_subqs.owl MONDO:0044646 biolink:NamedThing early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome phenio_relaxed_subqs.owl MONDO:0044726 biolink:NamedThing psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome phenio_relaxed_subqs.owl NCIT:C97073 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:183500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3274137 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27443 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3274138 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021101 biolink:NamedThing appendix L-cell glucagon-like peptide-producing neuroendocrine tumor A neuroendocrine tumor arising from the wall of the appendix, producing glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns. phenio_relaxed_subqs.owl DOID:8151 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27445 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3274139 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004210 biolink:NamedThing colonic L-cell glucagon-like peptide producing tumor A neuroendocrine tumor that arises from the colon and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns. phenio_relaxed_subqs.owl DOID:7401 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27447 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3274140 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7402 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004252 biolink:NamedThing small intestinal L-cell glucagon-like peptide producing tumor A neuroendocrine tumor that arises from the small intestine and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns. phenio_relaxed_subqs.owl NCIT:C27448 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3274143 biolink:NamedThing phenio_relaxed_subqs.owl DOID:7506 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C27452 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3275160 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C35774 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3275445 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010455 biolink:NamedThing X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias. phenio_relaxed_subqs.owl DOID:0080319 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010907 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300853 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_711481001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:317476 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3275447 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010457 biolink:NamedThing Ogden syndrome Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat. phenio_relaxed_subqs.owl DOID:0050781 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000188 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536107 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300855 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:276432 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3275495 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300867 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3275508 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010466 biolink:NamedThing multiple congenital anomalies-hypotonia-seizures syndrome 2 Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene. phenio_relaxed_subqs.owl DOID:0080139 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012777 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300868 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:300496 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3275521 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010467 biolink:NamedThing Xq27.3q28 duplication syndrome Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism. phenio_relaxed_subqs.owl OMIM:300869 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261483 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3275625 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:310980 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3275750 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010859 biolink:NamedThing atrioventricular septal defect 3 Any atrioventricular septal defect in which the cause of the disease is a mutation in the GJA1 gene. phenio_relaxed_subqs.owl OMIM:600309 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3275998 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011173 biolink:NamedThing thrombocythemia 2 Familial thrombocytosis in which the cause of the disease is a mutation in the MPL gene. phenio_relaxed_subqs.owl OMIM:601977 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3276095 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007170 biolink:NamedThing atresia of external auditory canal and conductive deafness phenio_relaxed_subqs.owl OMIM:108760 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3276228 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C136464 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:101800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3276276 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011421 biolink:NamedThing mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene. phenio_relaxed_subqs.owl DOID:0050768 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001459 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604273 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3276432 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011582 biolink:NamedThing multiple mitochondrial dysfunctions syndrome 1 Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene. phenio_relaxed_subqs.owl UMLS:CN226135 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080133 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:605711 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:401869 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3276539 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070130 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:123700 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3276549 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009897 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:125250 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3277076 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111059 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:153670 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3277235 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004218 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:164750 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3277671 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008554 biolink:NamedThing thrombocythemia 1 phenio_relaxed_subqs.owl OMIM:187950 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3278211 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567077 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612336 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:26349 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3278664 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013111 biolink:NamedThing acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia. phenio_relaxed_subqs.owl OBO:GARD_0010593 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613070 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:217371 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3279657 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564215 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614033 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3279662 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565439 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614037 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717185008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79507 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3279664 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013540 biolink:NamedThing deafness-lymphedema-leukemia syndrome Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders. phenio_relaxed_subqs.owl OBO:GARD_0013030 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614038 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_700057001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3226 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3279690 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614042 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3279708 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013547 biolink:NamedThing mitochondrial complex V (ATP synthase) deficiency nuclear type 3 Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene. phenio_relaxed_subqs.owl DOID:0060332 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614053 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3279716 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614063 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3279738 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013551 biolink:NamedThing hereditary spastic paraplegia 47 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene. phenio_relaxed_subqs.owl DOID:0110799 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C164224 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614066 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3279743 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013552 biolink:NamedThing hereditary spastic paraplegia 52 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene. phenio_relaxed_subqs.owl DOID:0110804 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614067 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3279748 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013553 biolink:NamedThing immunodeficiency-centromeric instability-facial anomalies syndrome 2 Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the ZBTB24 gene. phenio_relaxed_subqs.owl DOID:0090009 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614069 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3279756 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013559 biolink:NamedThing Hermansky-Pudlak syndrome 7 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene. phenio_relaxed_subqs.owl DOID:0060545 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614076 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:231531 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3279775 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013563 biolink:NamedThing multiple congenital anomalies-hypotonia-seizures syndrome 1 Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene. phenio_relaxed_subqs.owl DOID:0080138 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012781 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614080 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:280633 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3279786 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614081 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3279792 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110090 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614091 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:498497 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3279793 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013570 biolink:NamedThing combined oxidative phosphorylation defect type 8 Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement. phenio_relaxed_subqs.owl UMLS:C4518839 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111479 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614096 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733600007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:319504 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3279800 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013572 biolink:NamedThing Keppen-Lubinsky syndrome phenio_relaxed_subqs.owl OMIM:614098 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:435628 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3279807 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614099 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3279824 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013576 biolink:NamedThing recurrent infections associated with rare immunoglobulin isotypes deficiency Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections. phenio_relaxed_subqs.owl OBO:MESH_C564131 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614102 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:183675 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3279840 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566402 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614105 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:289307 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3279841 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013580 biolink:NamedThing pyruvate dehydrogenase E1-beta deficiency Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia. phenio_relaxed_subqs.owl OBO:MESH_C566729 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614111 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:255138 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3279843 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080142 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614114 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3279885 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070158 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0011927 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C580162 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614116 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:456318 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3279899 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111356 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614120 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3279904 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013587 biolink:NamedThing glycogen storage disease due to lactate dehydrogenase H-subunit deficiency A condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. LDHBD is caused by mutations in the LDHB gene and is inherited in an autosomal recessive manner. phenio_relaxed_subqs.owl OBO:GARD_0003161 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563641 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614128 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:284435 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3279990 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012314 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614162 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:391487 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3279992 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614165 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3279996 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013603 biolink:NamedThing myopia 20, autosomal dominant phenio_relaxed_subqs.owl OMIM:614166 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3279997 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013604 biolink:NamedThing myopia 21, autosomal dominant Any myopia (disease) in which the cause of the disease is a mutation in the ZNF644 gene. phenio_relaxed_subqs.owl OMIM:614167 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280011 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013605 biolink:NamedThing brittle cornea syndrome 2 Any brittle cornea syndrome in which the cause of the disease is a mutation in the PRDM5 gene. phenio_relaxed_subqs.owl OMIM:614170 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280026 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013606 biolink:NamedThing Hermansky-Pudlak syndrome 9 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene. phenio_relaxed_subqs.owl DOID:0060547 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614171 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:280663 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280030 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013607 biolink:NamedThing monocytopenia with susceptibility to infections phenio_relaxed_subqs.owl OBO:GARD_0010934 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614172 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:228423 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280031 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013608 biolink:NamedThing Joubert syndrome 13 Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN1 gene. phenio_relaxed_subqs.owl DOID:0110982 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614173 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280036 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN620433 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614175 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280065 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013614 biolink:NamedThing hypertelorism-preauricular sinus-punctual pits-deafness syndrome phenio_relaxed_subqs.owl OMIM:614187 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:293958 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280094 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013616 biolink:NamedThing pigmented nodular adrenocortical disease, primary, 3 Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene. phenio_relaxed_subqs.owl OMIM:614190 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280095 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060403 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005408 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563524 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613675 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722122000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:137634 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:97685 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280099 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614195 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280100 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080384 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614196 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280113 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614199 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:306507 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280120 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013623 biolink:NamedThing platelet-type bleeding disorder 11 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene. phenio_relaxed_subqs.owl DOID:0111057 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013293 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614201 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_765977002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98885 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280133 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060897 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614203 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280146 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013627 biolink:NamedThing 3M syndrome 3 Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene. phenio_relaxed_subqs.owl OMIM:614205 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280153 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614207 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280155 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614209 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280168 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013634 biolink:NamedThing neuropathy, hereditary sensory, type 2C Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the KIF1A gene. phenio_relaxed_subqs.owl DOID:0070147 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614213 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280203 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013638 biolink:NamedThing Warburg micro syndrome 3 Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene. phenio_relaxed_subqs.owl DOID:0110718 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614222 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280205 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013640 biolink:NamedThing familial retinal arterial macroaneurysm phenio_relaxed_subqs.owl OBO:GARD_0012779 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614224 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764452004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:284247 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280214 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013641 biolink:NamedThing Warburg micro syndrome 2 Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene. phenio_relaxed_subqs.owl DOID:0110717 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614225 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280215 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110877 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614226 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280216 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013643 biolink:NamedThing hyperuricemic nephropathy, familial juvenile type 3 phenio_relaxed_subqs.owl OMIM:614227 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280220 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110175 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012434 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614228 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:284232 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280231 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013646 biolink:NamedThing chromosome 8q21.11 deletion syndrome 8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies. phenio_relaxed_subqs.owl UMLS:C4305343 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060425 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614230 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718615003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:284160 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280240 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0031481 biolink:NamedThing microcephaly, epilepsy, and diabetes syndrome 1 phenio_relaxed_subqs.owl OMIM:614231 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:306558 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280275 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013654 biolink:NamedThing aneurysm, intracranial berry, 11 phenio_relaxed_subqs.owl OMIM:614252 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280296 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614261 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_703369003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:294016 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280309 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614262 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280314 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111263 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010818 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C580002 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614265 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702365002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:289504 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280315 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566640 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614278 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280342 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013666 biolink:NamedThing Stickler syndrome, type 5 Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene. phenio_relaxed_subqs.owl OMIM:614284 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280352 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614293 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280355 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013672 biolink:NamedThing chromosome 15q25 deletion syndrome phenio_relaxed_subqs.owl DOID:0060396 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614294 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280371 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013674 biolink:NamedThing neurodegeneration with brain iron accumulation 4 Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities. phenio_relaxed_subqs.owl DOID:0110738 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012569 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614298 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_709415008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:289560 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280378 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013675 biolink:NamedThing multiple mitochondrial dysfunctions syndrome 2 Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene. phenio_relaxed_subqs.owl DOID:0080134 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614299 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:401874 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280415 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614306 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280428 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013681 biolink:NamedThing alpha-methylacyl-CoA racemase deficiency A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy. phenio_relaxed_subqs.owl DOID:0060602 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565768 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008967 biolink:NamedThing congenital bile acid synthesis defect 4 An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease. phenio_relaxed_subqs.owl NCIT:C119677 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614307 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_700463002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001980 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280471 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080495 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614324 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280489 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013691 biolink:NamedThing Feingold syndrome type 2 Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures. phenio_relaxed_subqs.owl OMIM:614326 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:391646 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280492 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013219 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614327 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_765057007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:289539 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280501 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013693 biolink:NamedThing inflammatory skin and bowel disease, neonatal, 1 Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene. phenio_relaxed_subqs.owl OMIM:614328 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280556 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013711 biolink:NamedThing peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome phenio_relaxed_subqs.owl OMIM:614369 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:397744 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280574 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614370 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280586 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013714 biolink:NamedThing mannose-binding lectin deficiency phenio_relaxed_subqs.owl OBO:MESH_C563602 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614372 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_703538003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280587 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013715 biolink:NamedThing amyotrophic lateral sclerosis type 16 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene. phenio_relaxed_subqs.owl DOID:0060207 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614373 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280598 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110089 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614376 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280612 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111121 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614377 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280616 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614378 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280641 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060298 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614379 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280642 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060297 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565167 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614380 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280660 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013726 biolink:NamedThing encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 phenio_relaxed_subqs.owl DOID:0070347 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614388 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:330050 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280692 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013735 biolink:NamedThing microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern. phenio_relaxed_subqs.owl OMIM:614407 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:329332 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280703 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614408 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280721 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614415 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280730 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013741 biolink:NamedThing familial temporal lobe epilepsy 5 A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13. phenio_relaxed_subqs.owl DOID:0060752 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614417 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280734 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024566 biolink:NamedThing febrile seizures, familial, 11 phenio_relaxed_subqs.owl DOID:0111308 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614418 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280742 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614420 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:300345 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280766 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013745 biolink:NamedThing Joubert syndrome 14 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene. phenio_relaxed_subqs.owl DOID:0110983 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614424 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280777 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013746 biolink:NamedThing ventricular septal defect 1 Any ventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene. phenio_relaxed_subqs.owl OMIM:614429 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280781 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013747 biolink:NamedThing atrioventricular septal defect 4 Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene. phenio_relaxed_subqs.owl OMIM:614430 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280785 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013749 biolink:NamedThing ventricular septal defect 3 Any ventricular septal defect in which the cause of the disease is a mutation in the NKX2-5 gene. phenio_relaxed_subqs.owl OMIM:614432 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280794 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614434 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280795 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614435 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280799 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013755 biolink:NamedThing PYCR1-related de Barsy syndrome Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene. phenio_relaxed_subqs.owl DOID:0070138 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614438 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:293633 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280800 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614441 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280817 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013757 biolink:NamedThing congenital nongoitrous hypothryoidism 6 Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene. phenio_relaxed_subqs.owl DOID:0070128 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614450 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280845 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013758 biolink:NamedThing Charcot-Marie-Tooth disease dominant intermediate E Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterised by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown. phenio_relaxed_subqs.owl UMLS:C4302667 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110205 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012011 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614455 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722294004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93114 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280856 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013760 biolink:NamedThing congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome phenio_relaxed_subqs.owl OMIM:614457 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:352333 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280866 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013761 biolink:NamedThing childhood encephalopathy due to thiamine pyrophosphokinase deficiency phenio_relaxed_subqs.owl OMIM:614458 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:293955 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280887 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013762 biolink:NamedThing lipoic acid synthetase deficiency Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person. phenio_relaxed_subqs.owl OBO:GARD_0012678 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614462 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:401859 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280897 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013763 biolink:NamedThing Joubert syndrome 15 Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene. phenio_relaxed_subqs.owl DOID:0110984 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614464 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280906 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013764 biolink:NamedThing Joubert syndrome 16 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene. phenio_relaxed_subqs.owl DOID:0110985 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614465 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280914 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090064 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614468 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:300359 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280939 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013769 biolink:NamedThing atrioventricular septal defect 5 Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene. phenio_relaxed_subqs.owl OMIM:614474 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280965 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013772 biolink:NamedThing congenital cataract-hearing loss-severe developmental delay syndrome phenio_relaxed_subqs.owl OMIM:614482 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:300313 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280970 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013773 biolink:NamedThing porencephaly 2 Any porencephaly in which the cause of the disease is a mutation in the COL4A2 gene. phenio_relaxed_subqs.owl OMIM:614483 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3280977 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013776 biolink:NamedThing spastic ataxia 5 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated. phenio_relaxed_subqs.owl DOID:0050944 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614487 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:313772 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3281055 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614501 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3281066 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110842 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614504 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3281084 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013789 biolink:NamedThing DDOST-CDG DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1). phenio_relaxed_subqs.owl DOID:0080569 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012398 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614507 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733083006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:300536 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3281092 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013791 biolink:NamedThing thrombophilia due to protein S deficiency, autosomal recessive phenio_relaxed_subqs.owl OMIM:614514 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3281106 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614520 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3281125 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013794 biolink:NamedThing thrombocythemia 3 Familial thrombocytosis in which the cause of the disease is a mutation in the JAK2 gene. phenio_relaxed_subqs.owl OMIM:614521 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3281137 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013796 biolink:NamedThing chromosome 17q12 duplication syndrome 17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia. phenio_relaxed_subqs.owl DOID:0060433 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013296 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614526 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764435003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261272 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3281138 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013797 biolink:NamedThing chromosome 17q12 deletion syndrome 17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported. phenio_relaxed_subqs.owl UMLS:C4518822 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060404 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013297 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614527 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733519008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261265 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3281152 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013798 biolink:NamedThing chromosome 16q22 deletion syndrome phenio_relaxed_subqs.owl DOID:0060401 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614541 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3281160 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013800 biolink:NamedThing Ehlers-Danlos syndrome, kyphoscoliotic and deafness type A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment. phenio_relaxed_subqs.owl OMIM:614557 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720859009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:300179 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3281192 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050883 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013264 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614559 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:313850 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3281200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C000598644 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614561 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:542310 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3281203 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614564 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:313846 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3281223 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614575 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3281234 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013811 biolink:NamedThing combined oxidative phosphorylation defect type 9 Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V. phenio_relaxed_subqs.owl DOID:0111472 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614582 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763209008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:319509 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3281288 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013817 biolink:NamedThing preeclampsia/eclampsia 5 Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene. phenio_relaxed_subqs.owl OMIM:614595 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3281289 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111416 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614602 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3282904 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C96839 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000322 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3463897 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:231090 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3463916 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050419 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C572568 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610984 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:200418 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3463917 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610600 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3463992 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080468 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:308350 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3468041 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111087 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C125704 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:227645 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3472711 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013594 biolink:NamedThing spinocerebellar ataxia type 36 Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia. phenio_relaxed_subqs.owl DOID:0050983 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012367 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C148316 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614153 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_711158005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:276198 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3484357 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013556 biolink:NamedThing Hermansky-Pudlak syndrome 4 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene. phenio_relaxed_subqs.owl DOID:0060542 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614073 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3489724 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012429 biolink:NamedThing Aicardi-Goutieres syndrome 2 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2B gene. phenio_relaxed_subqs.owl OBO:GARD_0010894 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610181 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3489725 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050656 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000815 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012426 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020789 biolink:NamedThing pseudo-TORCH syndrome 1 phenio_relaxed_subqs.owl MONDO:0030044 biolink:NamedThing pseudo-TORCH syndrome 3 phenio_relaxed_subqs.owl OBO:OMIMPS_251290 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722390006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1229 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3489787 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009091 biolink:NamedThing non-acquired combined pituitary hormone deficiency with spine abnormalities Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated. phenio_relaxed_subqs.owl OBO:GARD_0010603 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536710 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:221750 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:231720 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3493776 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010142 biolink:NamedThing hypothyroidism due to TSH receptor mutations Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH. phenio_relaxed_subqs.owl UMLS:CN206435 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070126 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:275200 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90673 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3495438 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007932 biolink:NamedThing age related macular degeneration 2 An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22. phenio_relaxed_subqs.owl DOID:0110015 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562479 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:153800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3495488 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019187 biolink:NamedThing Axenfeld-Rieger syndrome Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies. phenio_relaxed_subqs.owl UMLS:CN776842 biolink:NamedThing phenio_relaxed_subqs.owl DOID:14686 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005701 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535679 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008386 biolink:NamedThing Axenfeld-Rieger syndrome type 1 A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth. phenio_relaxed_subqs.owl MONDO:0011233 biolink:NamedThing Axenfeld-Rieger syndrome type 3 Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene. phenio_relaxed_subqs.owl NCIT:C131001 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_180500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_47507006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:782 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3495555 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006001 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C125661 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:212200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_410052008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1361 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3495590 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008565 biolink:NamedThing familial thyroglossal duct cyst Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck. phenio_relaxed_subqs.owl OBO:GARD_0005204 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536909 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:188455 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717331000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93953 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3495801 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4050407 biolink:NamedThing phenio_relaxed_subqs.owl DOID:12132 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007880 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_M31.3 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_446.4 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014890 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C123111 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608710 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_195353004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005297 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:900 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3496228 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012866 biolink:NamedThing hereditary spastic paraplegia 35 Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging. phenio_relaxed_subqs.owl DOID:0110786 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567311 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612319 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764688002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:171629 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3496337 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019067 biolink:NamedThing idiopathic steroid-sensitive nephrotic syndrome Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits. phenio_relaxed_subqs.owl MONDO:0019401 biolink:NamedThing sporadic idiopathic steroid-resistant nephrotic syndrome Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterised by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema. phenio_relaxed_subqs.owl MONDO:0035459 biolink:NamedThing idiopathic multidrug-resistant nephrotic syndrome phenio_relaxed_subqs.owl MONDO:0035460 biolink:NamedThing idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy phenio_relaxed_subqs.owl NCIT:C122796 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:357502 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3496579 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3805239 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_471268000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1456 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3501843 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227216 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014681 biolink:NamedThing thyroid cancer, nonmedullary, 4 Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the FOXE1 gene. phenio_relaxed_subqs.owl MONDO:0014682 biolink:NamedThing thyroid cancer, nonmedullary, 5 Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the HABP2 gene. phenio_relaxed_subqs.owl OBO:OMIMPS_188550 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:319494 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3501848 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN043611 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2590 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0026726 biolink:NamedThing nephrotic syndrome, type 20 phenio_relaxed_subqs.owl MONDO:0030895 biolink:NamedThing nephrotic syndrome, type 22 phenio_relaxed_subqs.owl MONDO:0030962 biolink:NamedThing nephrotic syndrome, type 23 phenio_relaxed_subqs.owl MONDO:0032580 biolink:NamedThing nephrotic syndrome, type 17 phenio_relaxed_subqs.owl MONDO:0032581 biolink:NamedThing nephrotic syndrome, type 18 phenio_relaxed_subqs.owl MONDO:0032582 biolink:NamedThing nephrotic syndrome, type 19 phenio_relaxed_subqs.owl MONDO:0032826 biolink:NamedThing nephrotic syndrome, type 21 phenio_relaxed_subqs.owl NCIT:C35337 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_256300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_48796009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3501891 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012301 biolink:NamedThing mitochondrial DNA depletion syndrome, myopathic form Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive. phenio_relaxed_subqs.owl DOID:0080120 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563698 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609560 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_703527003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:254875 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3502055 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000583 biolink:NamedThing immunoglobulin beta deficiency phenio_relaxed_subqs.owl DOID:0060026 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567200 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3502075 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017338 biolink:NamedThing fatal multiple mitochondrial dysfunctions syndrome Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual. phenio_relaxed_subqs.owl UMLS:CN202994 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN234684 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070330 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012632 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565304 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014132 biolink:NamedThing multiple mitochondrial dysfunctions syndrome 3 Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene. phenio_relaxed_subqs.owl MONDO:0033282 biolink:NamedThing multiple mitochondrial dysfunctions syndrome 5 phenio_relaxed_subqs.owl MONDO:0054785 biolink:NamedThing multiple mitochondrial dysfunctions syndrome 6 phenio_relaxed_subqs.owl OBO:OMIMPS_605711 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720827002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:289573 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3502417 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012790 biolink:NamedThing amyotrophic lateral sclerosis type 10 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TARDBP gene. phenio_relaxed_subqs.owl DOID:0060201 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010497 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567429 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612069 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3502453 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005267 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564760 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:275450 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_766813000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3355 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3502510 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566433 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3532354 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050046 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_472822008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3538951 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016559 biolink:NamedThing glaucoma secondary to spherophakia/ectopia lentis and megalocornea Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate. phenio_relaxed_subqs.owl OMIM:251750 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3539003 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070151 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614653 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314381 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3539013 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014007 biolink:NamedThing Aicardi-Goutieres syndrome 6 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the ADAR gene. phenio_relaxed_subqs.owl OMIM:615010 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3539071 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111122 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614844 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3539123 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110732 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614706 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314629 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3539124 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014001 biolink:NamedThing Usher syndrome type 1K An Usher syndrome type 1 that has material basis in variation in the chromosome region 10p11.21-q21.1. phenio_relaxed_subqs.owl DOID:0110837 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614990 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3539195 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013888 biolink:NamedThing tremor, hereditary essential, 4 Any essential tremor in which the cause of the disease is a mutation in the FUS gene. phenio_relaxed_subqs.owl DOID:0111431 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614782 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3539494 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013962 biolink:NamedThing hereditary spastic paraplegia 53 A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A. phenio_relaxed_subqs.owl UMLS:C4510082 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110805 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614898 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723823004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:319199 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3539495 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014018 biolink:NamedThing hereditary spastic paraplegia 54 A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2. phenio_relaxed_subqs.owl UMLS:C4510083 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110806 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615033 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723824005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:320380 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3539506 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014020 biolink:NamedThing hereditary spastic paraplegia 55 phenio_relaxed_subqs.owl UMLS:C4510214 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110807 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615035 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723825006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:320375 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3539507 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014015 biolink:NamedThing hereditary spastic paraplegia 56 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene. phenio_relaxed_subqs.owl DOID:0110808 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615030 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:320411 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3539920 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111654 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614941 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3540450 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090087 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007794 biolink:NamedThing hypogonadotropic hypogonadism 7 with or without anosmia A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported. phenio_relaxed_subqs.owl OMIM:614858 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3540453 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013959 biolink:NamedThing Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones. phenio_relaxed_subqs.owl DOID:0110193 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012441 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614895 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715801001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99952 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3540844 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110625 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615067 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3541462 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013915 biolink:NamedThing hypogonadotropic hypogonadism 13 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene. phenio_relaxed_subqs.owl DOID:0090073 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614842 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3541517 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013982 biolink:NamedThing ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant phenio_relaxed_subqs.owl DOID:0111653 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614940 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3541853 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111123 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614845 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3542024 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013902 biolink:NamedThing aortic valve disease 2 Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene. phenio_relaxed_subqs.owl DOID:0080334 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614823 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3542026 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013933 biolink:NamedThing peroxisome biogenesis disorder 5B phenio_relaxed_subqs.owl NCIT:C155757 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614867 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3542549 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014016 biolink:NamedThing hereditary spastic paraplegia 49 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene. phenio_relaxed_subqs.owl DOID:0110801 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615031 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:320385 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3542550 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110621 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614679 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3542922 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614699 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3543825 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110604 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614874 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3543826 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110608 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614935 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3549447 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:104290 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3549845 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007829 biolink:NamedThing cholestasis, intrahepatic, of pregnancy, 1 phenio_relaxed_subqs.owl DOID:0070228 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:147480 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3550234 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008736 biolink:NamedThing peroxisome biogenesis disorder 2B phenio_relaxed_subqs.owl DOID:0080622 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:202370 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3550273 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008954 biolink:NamedThing peroxisome biogenesis disorder 2A (Zellweger) phenio_relaxed_subqs.owl DOID:0080477 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:214110 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3550478 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090092 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003073 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:244200 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3550789 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010308 biolink:NamedThing thrombocytopenia, X-linked, with or without dyserythropoietic anemia An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present. phenio_relaxed_subqs.owl MONDO:0019031 biolink:NamedThing thrombocytopenia with congenital dyserythropoietic anemia Thrombocytopenia with congenital dyserythropoietic anemia (CDA) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia. phenio_relaxed_subqs.owl NCIT:C136653 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300367 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3550903 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080509 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300882 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3550904 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010472 biolink:NamedThing developmental and epileptic encephalopathy, 36 phenio_relaxed_subqs.owl DOID:0080470 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012401 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300884 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733451007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:324422 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3550963 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111140 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C130989 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300888 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:329235 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3550973 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010476 biolink:NamedThing neurodegeneration with brain iron accumulation 5 Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood. phenio_relaxed_subqs.owl UMLS:CN168656 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110739 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012570 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300894 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_732959007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:329284 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3551173 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010909 biolink:NamedThing UV-sensitive syndrome 1 Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC6 gene. phenio_relaxed_subqs.owl OMIM:600630 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3551716 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011503 biolink:NamedThing cortisone reductase deficiency 1 Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency. phenio_relaxed_subqs.owl DOID:0090141 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131849 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604931 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3551954 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070238 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607426 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3552304 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610424 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3552343 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090077 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010772 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565696 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610628 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3552552 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567337 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612359 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3552553 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090084 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010773 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567220 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612370 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3552574 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090086 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010774 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567199 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612702 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3552634 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013081 biolink:NamedThing lymphoproliferative syndrome 1 A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia.. phenio_relaxed_subqs.owl DOID:0060707 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C567815 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126344 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613011 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:538963 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553060 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013677 biolink:NamedThing Emery-Dreifuss muscular dystrophy 7, autosomal dominant Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene. phenio_relaxed_subqs.owl DOID:0070252 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614302 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553230 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013810 biolink:NamedThing COG6-CGD phenio_relaxed_subqs.owl DOID:0070264 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010944 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614576 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:464443 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553247 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070044 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614607 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553248 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070045 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614608 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553249 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070046 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614609 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553250 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614613 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553264 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013824 biolink:NamedThing Joubert syndrome 17 Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene. phenio_relaxed_subqs.owl DOID:0110986 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614615 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553288 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013827 biolink:NamedThing hyperekplexia 3 Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene. phenio_relaxed_subqs.owl DOID:0060698 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614618 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553291 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013828 biolink:NamedThing hyperekplexia 2 Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene. phenio_relaxed_subqs.owl DOID:0060697 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614619 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553298 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013829 biolink:NamedThing UV-sensitive syndrome 2 Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC8 gene. phenio_relaxed_subqs.owl OMIM:614621 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553328 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013834 biolink:NamedThing UV-sensitive syndrome 3 Any UV-sensitive syndrome in which the cause of the disease is a mutation in the UVSSA gene. phenio_relaxed_subqs.owl OMIM:614640 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553330 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013835 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene. phenio_relaxed_subqs.owl DOID:0111234 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614643 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553349 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070243 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614650 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:280406 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553354 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070239 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614651 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:254898 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553358 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070240 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614652 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553374 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070242 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614654 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:319678 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553381 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013841 biolink:NamedThing stuttering, familial persistent, 3 phenio_relaxed_subqs.owl OMIM:614655 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553382 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013842 biolink:NamedThing cortisone reductase deficiency 2 Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency. phenio_relaxed_subqs.owl DOID:0090140 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131084 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614662 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553403 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013844 biolink:NamedThing stuttering, familial persistent, 4 phenio_relaxed_subqs.owl OMIM:614668 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553404 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614669 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553407 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060430 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012388 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614671 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_765142003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:370079 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553414 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013849 biolink:NamedThing microcephaly 8, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP135 gene. phenio_relaxed_subqs.owl DOID:0070282 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614673 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553418 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0044660 biolink:NamedThing menstrual cycle-dependent periodic fever phenio_relaxed_subqs.owl OMIM:614674 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:498251 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553465 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614684 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553476 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614687 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553512 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614700 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:445018 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553517 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080508 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614701 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553529 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013865 biolink:NamedThing mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia. phenio_relaxed_subqs.owl DOID:0111480 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614702 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314637 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553571 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013870 biolink:NamedThing TMEM165-CDG TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12). phenio_relaxed_subqs.owl DOID:0070263 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012413 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614727 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_732252005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314667 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553582 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070006 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614728 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553587 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013874 biolink:NamedThing glucocorticoid deficiency 4 Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the NNT gene. phenio_relaxed_subqs.owl NCIT:C131452 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614736 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553597 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013875 biolink:NamedThing 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene. phenio_relaxed_subqs.owl DOID:0110001 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012963 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614739 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_711409002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:352328 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553607 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080363 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614741 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:447784 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553617 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013878 biolink:NamedThing pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the TERT gene. phenio_relaxed_subqs.owl OMIM:614742 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001501 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553622 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013879 biolink:NamedThing pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 phenio_relaxed_subqs.owl OMIM:614743 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553625 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013880 biolink:NamedThing facial paresis, hereditary congenital, 3 Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene. phenio_relaxed_subqs.owl OMIM:614744 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553636 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614748 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:306504 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553637 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614749 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553645 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013883 biolink:NamedThing congenital myasthenic syndrome 13 Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene. phenio_relaxed_subqs.owl DOID:0110676 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614750 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553660 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614753 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763795006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:420179 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553661 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013886 biolink:NamedThing nonprogressive cerebellar atxia with intellectual disability Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin). phenio_relaxed_subqs.owl DOID:0050998 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614756 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723441001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314647 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553676 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614779 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553758 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013896 biolink:NamedThing Joubert syndrome 18 Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN3 gene. phenio_relaxed_subqs.owl DOID:0110987 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614815 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553762 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070233 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010588 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614816 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553785 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614819 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553788 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614820 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553813 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013904 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene. phenio_relaxed_subqs.owl DOID:0111231 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614830 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553816 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013905 biolink:NamedThing autosomal recessive spinocerebellar ataxia 13 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain. phenio_relaxed_subqs.owl DOID:0080062 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614831 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:324262 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553830 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013906 biolink:NamedThing amelogenesis imperfecta hypomaturation type 2A4 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ODAPH gene. phenio_relaxed_subqs.owl DOID:0110062 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614832 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553831 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013907 biolink:NamedThing bilateral generalized polymicrogyria Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person. phenio_relaxed_subqs.owl OBO:GARD_0010786 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:208447 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553841 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090074 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614837 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553842 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090085 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614838 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553843 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013912 biolink:NamedThing hypogonadotropic hypogonadism 10 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TAC3 gene. phenio_relaxed_subqs.owl DOID:0090089 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614839 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553844 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090071 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614840 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553858 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013918 biolink:NamedThing distal tetrasomy 15q phenio_relaxed_subqs.owl UMLS:CN203770 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614846 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314588 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553870 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070011 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614851 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:319675 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553886 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013923 biolink:NamedThing microcephaly 9, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene. phenio_relaxed_subqs.owl DOID:0070292 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614852 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553915 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013925 biolink:NamedThing methylmalonic acidemia with homocystinuria, type cblJ phenio_relaxed_subqs.owl OBO:GARD_0012621 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614857 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:369955 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553929 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013927 biolink:NamedThing peroxisome biogenesis disorder 3A (Zellweger) phenio_relaxed_subqs.owl DOID:0080478 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566633 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C155752 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614859 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553936 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013930 biolink:NamedThing peroxisome biogenesis disorder 4A (Zellweger) phenio_relaxed_subqs.owl DOID:0080479 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563301 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C155754 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614862 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553937 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013931 biolink:NamedThing peroxisome biogenesis disorder 4B phenio_relaxed_subqs.owl NCIT:C155755 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614863 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553940 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013932 biolink:NamedThing peroxisome biogenesis disorder 5A (Zellweger) phenio_relaxed_subqs.owl DOID:0080480 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C155756 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614866 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553943 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013934 biolink:NamedThing combined immunodeficiency due to STK4 deficiency Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency). phenio_relaxed_subqs.owl OMIM:614868 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314689 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553944 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110836 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614869 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553947 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013936 biolink:NamedThing peroxisome biogenesis disorder 6A (Zellweger) phenio_relaxed_subqs.owl DOID:0080481 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566422 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C155758 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614870 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553948 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013937 biolink:NamedThing peroxisome biogenesis disorder 6B phenio_relaxed_subqs.owl NCIT:C155759 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614871 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553951 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013939 biolink:NamedThing peroxisome biogenesis disorder 7B phenio_relaxed_subqs.owl OMIM:614873 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553958 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614875 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99646 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553959 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013942 biolink:NamedThing peroxisome biogenesis disorder 8A (Zellweger) phenio_relaxed_subqs.owl DOID:0080483 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614876 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553960 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013943 biolink:NamedThing peroxisome biogenesis disorder 8B phenio_relaxed_subqs.owl OMIM:614877 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553961 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614878 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:324530 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553977 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090075 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614880 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553989 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013947 biolink:NamedThing young adult-onset distal hereditary motor neuropathy Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared. phenio_relaxed_subqs.owl OMIM:614881 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314485 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3553999 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013948 biolink:NamedThing peroxisome biogenesis disorder 10A (Zellweger) phenio_relaxed_subqs.owl DOID:0080484 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614882 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554000 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013949 biolink:NamedThing peroxisome biogenesis disorder 11A (Zellweger) phenio_relaxed_subqs.owl DOID:0080485 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614883 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554001 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013950 biolink:NamedThing peroxisome biogenesis disorder 11B phenio_relaxed_subqs.owl OMIM:614885 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554002 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013951 biolink:NamedThing peroxisome biogenesis disorder 12A (Zellweger) phenio_relaxed_subqs.owl DOID:0080486 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614886 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554004 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013952 biolink:NamedThing peroxisome biogenesis disorder 13A (Zellweger) phenio_relaxed_subqs.owl DOID:0080487 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566624 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614887 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554021 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090080 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614897 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554042 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614900 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554055 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013967 biolink:NamedThing peroxisome biogenesis disorder 14B phenio_relaxed_subqs.owl OMIM:614920 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554067 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013969 biolink:NamedThing combined oxidative phosphorylation defect type 11 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene. phenio_relaxed_subqs.owl DOID:0111481 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614922 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:324535 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554078 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090126 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614923 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:308410 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554079 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111493 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013381 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614924 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763366000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314051 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554105 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614926 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554108 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111657 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614927 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554111 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013974 biolink:NamedThing ectodermal dysplasia 6, hair/nail type phenio_relaxed_subqs.owl DOID:0111659 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614928 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554117 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013975 biolink:NamedThing ectodermal dysplasia 7, hair/nail type Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT74 gene. phenio_relaxed_subqs.owl DOID:0111660 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614929 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554127 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013976 biolink:NamedThing ectodermal dysplasia 9, hair/nail type Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the HOXC13 gene. phenio_relaxed_subqs.owl DOID:0111656 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614931 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554129 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013977 biolink:NamedThing combined oxidative phosphorylation defect type 13 Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive. phenio_relaxed_subqs.owl DOID:0111467 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614932 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763110007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:319514 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554145 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013980 biolink:NamedThing palmoplantar keratoderma, punctate type ib phenio_relaxed_subqs.owl OMIM:614936 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554168 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013986 biolink:NamedThing combined oxidative phosphorylation defect type 14 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene. phenio_relaxed_subqs.owl DOID:0111477 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614946 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:319519 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554182 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013987 biolink:NamedThing combined oxidative phosphorylation defect type 15 Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported. phenio_relaxed_subqs.owl DOID:0111491 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614947 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763203009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:319524 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554194 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614954 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554224 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013991 biolink:NamedThing obesity due to congenital leptin deficiency Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia. phenio_relaxed_subqs.owl DOID:0111334 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013015 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614962 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:66628 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554225 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013992 biolink:NamedThing obesity due to leptin receptor gene deficiency phenio_relaxed_subqs.owl NCIT:C120386 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614963 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:179494 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554235 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013994 biolink:NamedThing Joubert syndrome 20 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM231 gene. phenio_relaxed_subqs.owl DOID:0110989 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614970 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554241 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013995 biolink:NamedThing cholestasis, intrahepatic, of pregnancy, 3 phenio_relaxed_subqs.owl DOID:0070229 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614972 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009150 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554245 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013996 biolink:NamedThing focal facial dermal dysplasia type II Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities. phenio_relaxed_subqs.owl OMIM:614973 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:398173 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554246 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013997 biolink:NamedThing focal facial dermal dysplasia type IV Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions. phenio_relaxed_subqs.owl OMIM:614974 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:398189 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554247 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614976 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554316 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080414 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554321 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554344 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615011 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554348 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014009 biolink:NamedThing autosomal recessive congenital ichthyosis 7 An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has material basis in variation in the chromosome region 12p11.2-q13.1. phenio_relaxed_subqs.owl DOID:0060716 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615022 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554349 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014010 biolink:NamedThing autosomal recessive congenital ichthyosis 9 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CERS3 gene. phenio_relaxed_subqs.owl DOID:0060718 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615023 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554355 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014011 biolink:NamedThing autosomal recessive congenital ichthyosis 10 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene. phenio_relaxed_subqs.owl DOID:0060719 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615024 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554366 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110170 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012446 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615025 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:329258 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554367 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615028 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:412189 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554381 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014022 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene. phenio_relaxed_subqs.owl DOID:0111239 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615041 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554385 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014023 biolink:NamedThing congenital muscular dystrophy with intellectual disability and severe epilepsy phenio_relaxed_subqs.owl DOID:0080571 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012416 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615042 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:329178 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554439 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014031 biolink:NamedThing microcephalic primordial dwarfism, Alazami type Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety. phenio_relaxed_subqs.owl OMIM:615071 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:319671 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554452 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110049 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615080 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554462 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014039 biolink:NamedThing mitochondrial DNA depletion syndrome 11 Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported. phenio_relaxed_subqs.owl DOID:0080129 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615084 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:352447 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554496 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615092 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554499 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014043 biolink:NamedThing microcephalic primordial dwarfism due to ZNF335 deficiency Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur. phenio_relaxed_subqs.owl UMLS:C4510378 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070294 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615095 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724141003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:329228 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554516 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615106 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554517 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615107 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554518 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615108 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554519 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615109 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554520 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014049 biolink:NamedThing urofacial syndrome 2 Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene. phenio_relaxed_subqs.owl OMIM:615112 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554534 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014051 biolink:NamedThing cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COX15 gene. phenio_relaxed_subqs.owl DOID:0080358 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615119 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554540 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014054 biolink:NamedThing lymphoproliferative syndrome 2 Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene. phenio_relaxed_subqs.owl DOID:0060708 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615122 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554560 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014055 biolink:NamedThing epilepsy, familial adult myoclonic, 4 phenio_relaxed_subqs.owl DOID:0111693 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615127 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554575 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014057 biolink:NamedThing maple syrup urine disease, mild variant phenio_relaxed_subqs.owl OMIM:615135 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554576 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615139 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:352712 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554593 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014060 biolink:NamedThing progressive retinal dystrophy due to retinol transport defect phenio_relaxed_subqs.owl OMIM:615147 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:352718 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554599 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014062 biolink:NamedThing mitochondrial DNA deletion syndrome with progressive myopathy phenio_relaxed_subqs.owl DOID:0111519 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615156 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:352470 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554605 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014063 biolink:NamedThing mitochondrial complex III deficiency nuclear type 2 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene. phenio_relaxed_subqs.owl DOID:0060351 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615157 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554606 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014064 biolink:NamedThing mitochondrial complex III deficiency nuclear type 3 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRB gene. phenio_relaxed_subqs.owl DOID:0080112 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615158 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554607 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014065 biolink:NamedThing mitochondrial complex III deficiency nuclear type 4 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRQ gene. phenio_relaxed_subqs.owl DOID:0080113 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615159 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554608 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014066 biolink:NamedThing mitochondrial complex III deficiency nuclear type 5 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene. phenio_relaxed_subqs.owl DOID:0080114 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615160 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554638 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014071 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene. phenio_relaxed_subqs.owl DOID:0111230 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615181 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554654 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014074 biolink:NamedThing Charcot-Marie-Tooth disease dominant intermediate F Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range. phenio_relaxed_subqs.owl DOID:0110206 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009206 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615185 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:352670 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554656 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070022 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615190 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554665 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014080 biolink:NamedThing osteosclerotic metaphyseal dysplasia phenio_relaxed_subqs.owl OMIM:615198 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:500548 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554686 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014081 biolink:NamedThing severe combined immunodeficiency due to CARD11 deficiency Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections. phenio_relaxed_subqs.owl OMIM:615206 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:357237 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554687 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014082 biolink:NamedThing cryptosporidiosis-chronic cholangitis-liver disease syndrome phenio_relaxed_subqs.owl OMIM:615207 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:357329 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3554689 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615214 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3640983 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200863 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C102870 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:206538 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3645536 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111216 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012718 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009709 biolink:NamedThing myopathy, centronuclear, 2 Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene. phenio_relaxed_subqs.owl MONDO:0014418 biolink:NamedThing myopathy, centronuclear, 5 Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene. phenio_relaxed_subqs.owl OBO:SCTID_240081004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:169186 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3661483 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050666 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3662057 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024359 biolink:NamedThing central sleep apnea due to periodic breathing phenio_relaxed_subqs.owl OBO:SCTID_85721000119105 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3662139 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_609522002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3662487 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN242096 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009820 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_609329007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:464343 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3665425 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204238 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013007 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C581942 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617971 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_74912001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:330041 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3665489 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009363 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C4783 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764791008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000140 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:206473 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3665676 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003983 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535815 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:162700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234576008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3665704 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012208 biolink:NamedThing congenital reticular ichthyosiform erythroderma phenio_relaxed_subqs.owl OBO:MESH_C563781 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609165 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_703504006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:281190 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3683791 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016798 biolink:NamedThing ataxia neuropathy spectrum phenio_relaxed_subqs.owl MONDO:0019791 biolink:NamedThing recessive mitochondrial ataxia syndrome phenio_relaxed_subqs.owl ORPHA:254818 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3694279 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0100116 biolink:NamedThing Middle East respiratory syndrome A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome. phenio_relaxed_subqs.owl DOID:0080642 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128424 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:576074 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3695063 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014117 biolink:NamedThing Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss). phenio_relaxed_subqs.owl DOID:0110194 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615284 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763345008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:363981 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3696376 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017359 biolink:NamedThing 3-methylglutaconic aciduria A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine. phenio_relaxed_subqs.owl DOID:0060336 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E71.111 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C579867 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014561 biolink:NamedThing 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the CLPB gene. phenio_relaxed_subqs.owl MONDO:0044723 biolink:NamedThing 3-methylglutaconic aciduria type 8 phenio_relaxed_subqs.owl MONDO:0044724 biolink:NamedThing 3-methylglutaconic aciduria type 9 phenio_relaxed_subqs.owl NCIT:C98678 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_250950 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237950009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:289902 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3698095 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_699802009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:71276 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3710589 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015753 biolink:NamedThing cap myopathy Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis. phenio_relaxed_subqs.owl OBO:GARD_0011915 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C579969 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_703532002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:171881 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3711380 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015548 biolink:NamedThing Huntington disease-like syndrome phenio_relaxed_subqs.owl OBO:MESH_C580174 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016987 biolink:NamedThing neuroacanthocytosis Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia. phenio_relaxed_subqs.owl MONDO:0018425 biolink:NamedThing Huntington disease-like syndrome due to C9ORF72 expansions phenio_relaxed_subqs.owl MONDO:0044332 biolink:NamedThing childhood-onset benign chorea with striatal involvement phenio_relaxed_subqs.owl OBO:SCTID_702376003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:158266 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3711381 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080523 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010981 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C580150 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C153289 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:221820 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702427005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:313808 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3711385 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016808 biolink:NamedThing mitochondrial DNA depletion syndrome, hepatocerebral form phenio_relaxed_subqs.owl UMLS:CN069134 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C580039 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009747 biolink:NamedThing Navajo neurohepatopathy phenio_relaxed_subqs.owl MONDO:0018197 biolink:NamedThing mitochondrial DNA depletion syndrome, hepatocerebrorenal form phenio_relaxed_subqs.owl ORPHA:254871 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3711387 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070296 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012117 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C579935 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014173 biolink:NamedThing microcephaly 11, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene. phenio_relaxed_subqs.owl MONDO:0014484 biolink:NamedThing microcephaly 12, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK6 gene. phenio_relaxed_subqs.owl MONDO:0014623 biolink:NamedThing microcephaly 14, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the SASS6 gene. phenio_relaxed_subqs.owl MONDO:0014660 biolink:NamedThing microcephaly 15, primary, autosomal recessive phenio_relaxed_subqs.owl MONDO:0014730 biolink:NamedThing microcephaly 16, primary, autosomal recessive phenio_relaxed_subqs.owl MONDO:0014908 biolink:NamedThing microcephaly 17, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CIT gene. phenio_relaxed_subqs.owl MONDO:0030339 biolink:NamedThing microcephaly 28, primary, autosomal recessive phenio_relaxed_subqs.owl MONDO:0032583 biolink:NamedThing microcephaly 24, primary, autosomal recessive phenio_relaxed_subqs.owl MONDO:0032694 biolink:NamedThing microcephaly 25, primary, autosomal recessive phenio_relaxed_subqs.owl MONDO:0054716 biolink:NamedThing microcephaly 19, primary, autosomal recessive phenio_relaxed_subqs.owl MONDO:0054761 biolink:NamedThing microcephaly 20, primary, autosomal recessive phenio_relaxed_subqs.owl MONDO:0054804 biolink:NamedThing microcephaly 21, primary, autosomal recessive phenio_relaxed_subqs.owl MONDO:0054805 biolink:NamedThing microcephaly 22, primary, autosomal recessive phenio_relaxed_subqs.owl MONDO:0054806 biolink:NamedThing microcephaly 23, primary, autosomal recessive phenio_relaxed_subqs.owl MONDO:0700054 biolink:NamedThing microcephaly 6 with or without short stature Disorder of fetal brain growth; individuals have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Clinical features include the features of ‘microcephaly 6, primary, autosomal recessive’ and 'Seckel syndrome', and may include short stature or mild seizures. phenio_relaxed_subqs.owl OBO:OMIMPS_251200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715981004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2512 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3711645 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012173 biolink:NamedThing long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy. phenio_relaxed_subqs.owl UMLS:CN074230 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN239369 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006867 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129929 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:609016 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_726021008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:5 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3713420 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN229602 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C580087 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014200 biolink:NamedThing aldosterone-producing adenoma with seizures and neurological abnormalities phenio_relaxed_subqs.owl MONDO:0014875 biolink:NamedThing hyperaldosteronism, familial, type IV phenio_relaxed_subqs.owl NCIT:C127160 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_103900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_703231005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:235936 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:371861 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3714506 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070115 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536133 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:249000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3714509 biolink:NamedThing phenio_relaxed_subqs.owl DOID:374 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D009748 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005451 biolink:NamedThing eating disorder A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake. phenio_relaxed_subqs.owl MONDO:0006784 biolink:NamedThing hemorrhagic disease of newborn A condition characterized as a coagulation disturbance in newborns due to vitamin K deficiency resulting in impaired production of coagulation factors II, VII, IX, and X, and proteins C and S by the liver. phenio_relaxed_subqs.owl MONDO:0006873 biolink:NamedThing nutritional deficiency disease A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed) phenio_relaxed_subqs.owl MONDO:0400005 biolink:NamedThing refeeding syndrome Potentially fatal shifts in fluids and electrolytes that may occur in malnourished patients receiving artificial refeeding (whether enterally or parenterally). phenio_relaxed_subqs.owl NCIT:C26836 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_2492009 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0001069 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3714534 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024534 biolink:NamedThing Dowling-Degos disease 1 Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene. phenio_relaxed_subqs.owl OMIM:179850 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3714580 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:170400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3714630 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005940 biolink:NamedThing respirovirus infectious disease Infections with viruses of the genus respirovirus, family paramyxoviridae. Host cell infection occurs by adsorption, via hemagglutinin, to the cell surface. phenio_relaxed_subqs.owl OBO:MESH_D010253 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0100203 biolink:NamedThing parainfluenza virus type 1 infectious disease A disease caused by infection with parainfluenza virus type 1. phenio_relaxed_subqs.owl EFO:0007465 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3714873 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110120 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C75015 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:180500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3714897 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014295 biolink:NamedThing hereditary spastic paraplegia 57 An extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function. phenio_relaxed_subqs.owl UMLS:C4510084 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110809 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615658 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723826007 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009017 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:431329 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3714899 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:185800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3714932 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014142 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2T Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency. phenio_relaxed_subqs.owl DOID:0110294 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012544 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615352 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:363623 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3714948 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615726 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3714949 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615728 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3714976 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018338 biolink:NamedThing activated PI3K-delta syndrome phenio_relaxed_subqs.owl OBO:GARD_0011983 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014222 biolink:NamedThing immunodeficiency 14 phenio_relaxed_subqs.owl MONDO:0014453 biolink:NamedThing immunodeficiency 36 phenio_relaxed_subqs.owl OBO:SCTID_711480000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:397596 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3714980 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110139 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615994 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3715049 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110727 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615362 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:352709 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3715079 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014277 biolink:NamedThing developmental dysplasia of the hip 2 phenio_relaxed_subqs.owl OMIM:615612 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3715128 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:263417 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3715165 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615396 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3715192 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014157 biolink:NamedThing mandibular hypoplasia-deafness-progeroid syndrome phenio_relaxed_subqs.owl OBO:GARD_0010989 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615381 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:363649 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3805375 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080614 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:113750 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722058005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:370097 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3805604 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007628 biolink:NamedThing foveal hypoplasia 1 Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene. phenio_relaxed_subqs.owl OBO:GARD_0000406 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:136520 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3805879 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:176400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3806174 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110140 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615995 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3806403 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN181337 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205644 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:725 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3806670 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300818 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3806688 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010478 biolink:NamedThing SLC35A2-CDG SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum). phenio_relaxed_subqs.owl DOID:0070265 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012403 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300896 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:356961 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3806702 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010479 biolink:NamedThing Charcot-Marie-Tooth disease X-linked dominant 6 X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles). phenio_relaxed_subqs.owl DOID:0110207 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012445 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300905 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763347000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:352675 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3806745 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010486 biolink:NamedThing Olmsted syndrome, X-linked phenio_relaxed_subqs.owl OMIM:300918 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3807235 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:603529 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3807327 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011442 biolink:NamedThing advanced sleep phase syndrome 1 Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER2 gene. phenio_relaxed_subqs.owl DOID:0110011 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604348 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3807567 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606721 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3808414 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614129 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3808494 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013696 biolink:NamedThing chromosome 2P16.3 deletion syndrome phenio_relaxed_subqs.owl OMIM:614332 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3808553 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203751 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614675 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314399 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3808667 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014021 biolink:NamedThing familial episodic pain syndrome with predominantly upper body involvement phenio_relaxed_subqs.owl UMLS:CN204968 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615040 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:391389 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3808739 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110657 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615120 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3808786 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204524 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070100 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615179 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722059002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:352745 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3808874 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014088 biolink:NamedThing advanced sleep phase syndrome 2 Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the CSNK1D gene. phenio_relaxed_subqs.owl DOID:0110012 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615224 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3808876 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204511 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615225 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616964 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:352662 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3808899 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014091 biolink:NamedThing mitochondrial complex V (ATP synthase) deficiency nuclear type 4 Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene. phenio_relaxed_subqs.owl DOID:0060333 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615228 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3808913 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014092 biolink:NamedThing schizophrenia 18 A schizophrenia that has material basis in a mutation of SLC1A1 on chromosome 9p24.2. phenio_relaxed_subqs.owl DOID:0070093 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615232 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3808940 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070203 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013125 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615238 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:435651 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3808953 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080389 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615244 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3808964 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014101 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene. phenio_relaxed_subqs.owl DOID:0111235 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615249 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3808971 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090079 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615266 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3808975 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090076 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615267 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3808977 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014104 biolink:NamedThing cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 Any dysequilibrium syndrome in which the cause of the disease is a mutation in the ATP8A2 gene. phenio_relaxed_subqs.owl OMIM:615268 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3808981 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090090 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615269 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3808983 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090082 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615270 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3808986 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090093 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615271 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3808988 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111093 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615272 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3808991 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060728 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012315 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126746 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615273 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_768846004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:404454 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809005 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111461 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615278 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809006 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111462 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615279 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809007 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111463 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615280 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809008 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615281 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:363412 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809013 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014116 biolink:NamedThing complex cortical dysplasia with other brain malformations 2 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene. phenio_relaxed_subqs.owl DOID:0090133 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615282 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809031 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014118 biolink:NamedThing congenital neutropenia-myelofibrosis-nephromegaly syndrome phenio_relaxed_subqs.owl OMIM:615285 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:369852 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809042 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014120 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 phenio_relaxed_subqs.owl DOID:0111238 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615287 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809084 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615293 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809087 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110596 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615294 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809104 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615298 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809105 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809137 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014129 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2R Autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) is a form of limb-girdle muscular dystrophy characterized by the adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block, and a sinus rhythm with very rare ventricular extrasystoles have also been reported. phenio_relaxed_subqs.owl DOID:0110286 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615325 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:363543 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809147 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014130 biolink:NamedThing Dowling-Degos disease 2 Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene. phenio_relaxed_subqs.owl OMIM:615327 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809160 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615328 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:363523 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809165 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080135 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615330 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:363424 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809199 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615346 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809209 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014138 biolink:NamedThing nemaline myopathy 8 An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles. phenio_relaxed_subqs.owl DOID:0110930 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129871 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615348 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809210 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615349 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:536467 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809216 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014140 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 phenio_relaxed_subqs.owl DOID:0111233 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615350 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809221 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014141 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 phenio_relaxed_subqs.owl OMIM:615351 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809233 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060586 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615355 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809243 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014146 biolink:NamedThing autosomal dominant hypocalcemia 2 An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13. phenio_relaxed_subqs.owl DOID:0090108 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615361 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809250 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615363 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724555000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009042 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:785 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809278 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060475 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013197 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615369 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809288 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615373 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809309 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110198 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615376 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:369867 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809320 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111124 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615382 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_444558002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809332 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014160 biolink:NamedThing TCR-alpha-beta-positive T-cell deficiency A non-severe combined immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR- gamma|delta, but little or no TCR-alpha|beta. phenio_relaxed_subqs.owl DOID:0111977 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615387 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:397959 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809339 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014162 biolink:NamedThing infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life. phenio_relaxed_subqs.owl DOID:0111469 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012892 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615395 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:352563 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809352 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615397 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809356 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014165 biolink:NamedThing multiple congenital anomalies-hypotonia-seizures syndrome 3 Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome is a rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase. phenio_relaxed_subqs.owl DOID:0080140 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615398 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:369837 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809369 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615399 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809374 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014167 biolink:NamedThing epilepsy, familial adult myoclonic, 5 Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene. phenio_relaxed_subqs.owl DOID:0111691 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809383 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014168 biolink:NamedThing severe combined immunodeficiency due to CORO1A deficiency phenio_relaxed_subqs.owl DOID:0060019 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615401 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:228003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809414 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014170 biolink:NamedThing complex cortical dysplasia with other brain malformations 3 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene. phenio_relaxed_subqs.owl DOID:0090134 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615411 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809420 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014171 biolink:NamedThing complex cortical dysplasia with other brain malformations 4 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene. phenio_relaxed_subqs.owl DOID:0090138 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615412 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809431 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070287 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615414 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809454 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024567 biolink:NamedThing hypotonia, infantile, with psychomotor retardation and characteristic facies 1 Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene. phenio_relaxed_subqs.owl OMIM:615419 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809464 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014177 biolink:NamedThing myopia 22, autosomal dominant phenio_relaxed_subqs.owl OMIM:615420 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809468 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111384 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615422 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809469 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111386 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615424 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809470 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615425 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:412181 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809483 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014184 biolink:NamedThing specific language impairment 5 A communication disorder that involves the processing of linguistic information. phenio_relaxed_subqs.owl OMIM:615432 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809490 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014185 biolink:NamedThing chromosome 3q13.31 deletion syndrome 3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present. phenio_relaxed_subqs.owl UMLS:CN036884 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060418 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536808 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615433 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_726705007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1621 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809522 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024568 biolink:NamedThing infantile liver failure syndrome 1 Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene. phenio_relaxed_subqs.owl OBO:GARD_0013114 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615438 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:370088 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809523 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014189 biolink:NamedThing age related macular degeneration 13 Any age-related macular degeneration in which the cause of the disease is a mutation in the CFI gene. phenio_relaxed_subqs.owl DOID:0110025 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615439 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809526 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014190 biolink:NamedThing combined oxidative phosphorylation defect type 17 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene. phenio_relaxed_subqs.owl DOID:0111496 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615440 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:369913 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809543 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110597 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615444 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809548 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110609 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615451 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809553 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014194 biolink:NamedThing mitochondrial complex III deficiency nuclear type 6 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the CYC1 gene. phenio_relaxed_subqs.owl DOID:0080115 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615453 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809583 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014197 biolink:NamedThing combined immunodeficiency due to MALT1 deficiency Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections. phenio_relaxed_subqs.owl OMIM:615468 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:397964 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809592 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014198 biolink:NamedThing mitochondrial DNA depletion syndrome 13 Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene. phenio_relaxed_subqs.owl DOID:0080131 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013298 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615471 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_765403009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:369897 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809609 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615474 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:369929 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809634 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110628 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615481 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809641 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110615 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615482 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809645 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615483 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809655 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014208 biolink:NamedThing Charcot-Marie-Tooth disease type 2R Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene. phenio_relaxed_subqs.owl DOID:0110161 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012451 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615490 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:397968 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809665 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615491 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:352654 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809684 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110627 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809691 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110094 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615503 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809701 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110611 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615504 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809706 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110607 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615505 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809710 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615506 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809719 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014218 biolink:NamedThing severe dermatitis-multiple allergies-metabolic wasting syndrome phenio_relaxed_subqs.owl OMIM:615508 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:369992 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809768 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014226 biolink:NamedThing idiopathic CD4 lymphocytopenia Idiopathic CD4 lymphocytopenia (ICL) is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed. phenio_relaxed_subqs.owl OBO:GARD_0012375 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615518 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763713000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:228000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809781 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012384 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615522 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_711154007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:324561 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809811 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060891 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615528 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809824 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060898 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615530 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809844 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014235 biolink:NamedThing chromosome 22q13 duplication syndrome phenio_relaxed_subqs.owl DOID:0060437 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615538 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809845 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014236 biolink:NamedThing Ehlers-Danlos syndrome, musculocontractural type 2 Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene. phenio_relaxed_subqs.owl OMIM:615539 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809858 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014239 biolink:NamedThing testicular anomalies with or without congenital heart disease phenio_relaxed_subqs.owl OMIM:615542 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809882 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014244 biolink:NamedThing hereditary sensory and autonomic neuropathy type 7 Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.' phenio_relaxed_subqs.owl DOID:0070149 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012732 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C125388 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615548 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:391397 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809888 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615550 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809893 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014246 biolink:NamedThing episodic pain syndrome, familial, 2 Any familial episodic pain syndrome in which the cause of the disease is a mutation in the SCN10A gene. phenio_relaxed_subqs.owl DOID:0111730 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615551 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809899 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C125390 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615552 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:391392 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809910 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014248 biolink:NamedThing autism spectrum disorder - epilepsy - arthrogryposis syndrome SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21). phenio_relaxed_subqs.owl OMIM:615553 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:370943 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809928 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110119 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615559 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809950 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615561 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809965 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080391 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615573 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809971 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014258 biolink:NamedThing congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome phenio_relaxed_subqs.owl OMIM:615574 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:391376 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3809991 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017407 biolink:NamedThing deficiency in anterior pituitary function - variable immunodeficiency syndrome phenio_relaxed_subqs.owl OMIM:615577 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810001 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014261 biolink:NamedThing growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene. phenio_relaxed_subqs.owl DOID:0111484 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615578 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:391348 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810012 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070236 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012356 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615582 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000012 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810023 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014263 biolink:NamedThing 8q24.3 microdeletion syndrome phenio_relaxed_subqs.owl OBO:GARD_0012814 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615583 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:508488 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810041 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110050 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615590 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810042 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014266 biolink:NamedThing age related macular degeneration 15 Any age-related macular degeneration in which the cause of the disease is a mutation in the C9 gene. phenio_relaxed_subqs.owl DOID:0110027 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615591 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810043 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014267 biolink:NamedThing severe combined immunodeficiency due to IKK2 deficiency Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present. phenio_relaxed_subqs.owl OMIM:615592 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:397787 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810053 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615593 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_766879006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:431149 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810055 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014269 biolink:NamedThing combined oxidative phosphorylation deficiency 19 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene. phenio_relaxed_subqs.owl DOID:0111476 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615595 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810062 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014270 biolink:NamedThing STT3A-CDG STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3). phenio_relaxed_subqs.owl DOID:0080572 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615596 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733111000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:370921 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810072 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014272 biolink:NamedThing palmoplantar keratoderma, Nagashima type Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. phenio_relaxed_subqs.owl OMIM:615598 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722205008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:140966 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810100 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014275 biolink:NamedThing Fanconi renotubular syndrome 3 Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene. phenio_relaxed_subqs.owl OMIM:615605 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810107 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014276 biolink:NamedThing combined immunodeficiency due to CD3gamma deficiency Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations. phenio_relaxed_subqs.owl UMLS:C4510864 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060018 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009521 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615607 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_725135004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:169082 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810127 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014278 biolink:NamedThing immunodeficiency 18 Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18. phenio_relaxed_subqs.owl DOID:0060017 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615615 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810147 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060016 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615617 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810160 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110817 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615625 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:401849 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810175 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110091 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615630 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810194 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014286 biolink:NamedThing neuropathy, hereditary sensory, type 1F Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene. phenio_relaxed_subqs.owl DOID:0070154 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615632 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810200 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110095 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615633 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810212 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014288 biolink:NamedThing Joubert syndrome 21 Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene. phenio_relaxed_subqs.owl DOID:0110990 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615636 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810230 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014290 biolink:NamedThing neurodegeneration with brain iron accumulation 6 COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder. phenio_relaxed_subqs.owl DOID:0110740 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012571 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615643 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_732264002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:397725 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810242 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C171603 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615651 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_768663003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:363540 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810265 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014296 biolink:NamedThing Warburg micro syndrome 4 Any Warburg micro syndrome in which the cause of the disease is a mutation in the TBC1D20 gene. phenio_relaxed_subqs.owl DOID:0110719 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615663 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810278 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014297 biolink:NamedThing Joubert syndrome 22 Any Joubert syndrome in which the cause of the disease is a mutation in the PDE6D gene. phenio_relaxed_subqs.owl DOID:0110991 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615665 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810282 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014298 biolink:NamedThing chromosome 5q12 deletion syndrome PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin. phenio_relaxed_subqs.owl DOID:0060421 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615668 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:439822 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810283 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615670 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810286 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014301 biolink:NamedThing dowling-degos disease 3 phenio_relaxed_subqs.owl OMIM:615674 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810289 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014303 biolink:NamedThing hereditary spastic paraplegia 64 An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1. phenio_relaxed_subqs.owl UMLS:C4511960 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110815 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615683 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_726609005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:401810 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810294 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014304 biolink:NamedThing hereditary spastic paraplegia 61 A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1. phenio_relaxed_subqs.owl UMLS:C4511962 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110812 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615685 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_726611001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:401780 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810295 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014305 biolink:NamedThing hereditary spastic paraplegia 63 An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2. phenio_relaxed_subqs.owl DOID:0110814 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615686 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_726610000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:401805 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810313 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014307 biolink:NamedThing Dowling-Degos disease 4 Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene. phenio_relaxed_subqs.owl OMIM:615696 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810324 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014309 biolink:NamedThing obesity due to CEP19 deficiency phenio_relaxed_subqs.owl OMIM:615703 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:397615 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810332 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615706 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810342 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014313 biolink:NamedThing autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity phenio_relaxed_subqs.owl OMIM:615707 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:437552 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810349 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110051 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615711 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810350 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615715 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:401764 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810354 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615716 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810367 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014321 biolink:NamedThing premature ovarian failure 8 Any primary ovarian failure in which the cause of the disease is a mutation in the STAG3 gene. phenio_relaxed_subqs.owl OMIM:615723 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810376 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014322 biolink:NamedThing premature ovarian failure 9 Any primary ovarian failure in which the cause of the disease is a mutation in the HFM1 gene. phenio_relaxed_subqs.owl OMIM:615724 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810384 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014326 biolink:NamedThing nemaline myopathy 9 Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene. phenio_relaxed_subqs.owl DOID:0110929 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615731 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810394 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014327 biolink:NamedThing palmoplantar keratoderma, nonepidermolytic, focal or diffuse phenio_relaxed_subqs.owl OMIM:615735 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:402003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810403 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615750 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718551002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:401945 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810404 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013201 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615751 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764456001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:401948 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3810407 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014337 biolink:NamedThing complex cortical dysplasia with other brain malformations 5 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2A gene. phenio_relaxed_subqs.owl DOID:0090135 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615763 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3812646 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016664 biolink:NamedThing drug-induced vasculitis A skin hypersensitivity reaction due to exposure to a pharmacologic substance that is characterized by raised purpuric lesions, red macules, hemorrhagic blisters and ulcerations. phenio_relaxed_subqs.owl NCIT:C112204 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:251325 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3827793 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016555 biolink:NamedThing transient congenital hypothyroidism due to maternal factor phenio_relaxed_subqs.owl MONDO:0016556 biolink:NamedThing transient congenital hypothyroidism due to neonatal factor phenio_relaxed_subqs.owl NCIT:C113171 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_119181000119104 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:178045 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3836857 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070122 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613885 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3838691 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015407 biolink:NamedThing cerebrofacial arteriovenous metameric syndrome type 3 phenio_relaxed_subqs.owl UMLS:CN199502 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_703268008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:141199 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3838860 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206343 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010508 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_700112007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:89938 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3839265 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199500 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015406 biolink:NamedThing cerebrofacial arteriovenous metameric syndrome type 1 phenio_relaxed_subqs.owl OBO:SCTID_703266007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:141189 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3839574 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015317 biolink:NamedThing laryngotracheal angioma phenio_relaxed_subqs.owl OBO:SCTID_703199001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:137935 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3839613 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226884 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_703270004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:210589 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3839822 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202862 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN240512 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010734 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C123317 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702411003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009068 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:284343 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3840076 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003125 biolink:NamedThing testicular sex cord-stromal neoplasm A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group. phenio_relaxed_subqs.owl UMLS:CN204701 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4757 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020808 biolink:NamedThing testicular sertoli cell tumor A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course. phenio_relaxed_subqs.owl MONDO:0700037 biolink:NamedThing testicular fibrothecoma A rare testicular sex cord-stromal neoplasm characterized by mixed features of both fibroma and thecoma. phenio_relaxed_subqs.owl NCIT:C6358 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702406000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:363489 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3840102 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199501 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_703267003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:141194 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3840223 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0003191 biolink:NamedThing rete ovarii adenocarcinoma An exceptionally rare adenocarcinoma that arises from the rete ovarii. phenio_relaxed_subqs.owl DOID:4894 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C40017 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3854394 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010962 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C121656 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718614004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:284227 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3854478 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017280 biolink:NamedThing demodicidosis Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings. phenio_relaxed_subqs.owl OBO:GARD_0001802 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:283 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3872845 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017363 biolink:NamedThing idiopathic chronic eosinophilic pneumonia Idiopathic chronic eosinophilic pneumonia (ICEP) is a very rare, severe, interstitial lung disease of insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss). phenio_relaxed_subqs.owl OBO:SCTID_708031000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:182101 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3875011 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205999 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111368 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:143470 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_15771000119109 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79506 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3875286 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010155 biolink:NamedThing Dorfman-Chanarin disease phenio_relaxed_subqs.owl MONDO:0010204 biolink:NamedThing lysosomal acid lipase deficiency Lysosomal acid lipase deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease, or 2) a less severe form, cholesteryl ester storage disease, of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis. phenio_relaxed_subqs.owl MONDO:0010246 biolink:NamedThing developmental and epileptic encephalopathy, 9 Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance. phenio_relaxed_subqs.owl MONDO:0010375 biolink:NamedThing developmental and epileptic encephalopathy, 8 phenio_relaxed_subqs.owl MONDO:0010498 biolink:NamedThing MEND syndrome phenio_relaxed_subqs.owl MONDO:0012391 biolink:NamedThing neuronal ceroid lipofuscinosis 8 northern epilepsy variant Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision. phenio_relaxed_subqs.owl MONDO:0014371 biolink:NamedThing developmental and epileptic encephalopathy, 23 phenio_relaxed_subqs.owl MONDO:0014510 biolink:NamedThing fatty acyl-CoA reductase 1 deficiency phenio_relaxed_subqs.owl MONDO:0014793 biolink:NamedThing microcephaly-congenital cataract-psoriasiform dermatitis syndrome phenio_relaxed_subqs.owl MONDO:0014832 biolink:NamedThing intellectual disability, autosomal recessive 53 phenio_relaxed_subqs.owl MONDO:0017708 biolink:NamedThing mevalonate kinase deficiency phenio_relaxed_subqs.owl MONDO:0017999 biolink:NamedThing fatty acid hydroxylase-associated neurodegeneration Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus. phenio_relaxed_subqs.owl MONDO:0020603 biolink:NamedThing X-linked chondrodysplasia punctata 2 A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. phenio_relaxed_subqs.owl MONDO:0034106 biolink:NamedThing developmental and epileptic encephalopathy, 73 phenio_relaxed_subqs.owl MONDO:0044737 biolink:NamedThing autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction phenio_relaxed_subqs.owl OBO:SCTID_109041000119107 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:181437 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3887494 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111665 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:224900 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3887495 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562543 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:231080 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733037000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2077 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3887523 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080155 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005508 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E71.310 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C98647 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:201475 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237997005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:26793 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3887547 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9220 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D020182 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024357 biolink:NamedThing drug induced central sleep apnea phenio_relaxed_subqs.owl MONDO:0024360 biolink:NamedThing central sleep apnea caused by high altitude phenio_relaxed_subqs.owl NCIT:C27169 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_27405005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3887668 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_88264003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3887892 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024523 biolink:NamedThing aortic valve disease 1 Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 gene. phenio_relaxed_subqs.owl DOID:0080333 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:109730 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3887896 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015128 biolink:NamedThing primary adrenal insufficiency A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary. phenio_relaxed_subqs.owl NCIT:C113172 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:101958 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3887964 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010916 biolink:NamedThing polycystic kidney disease 3 with or without polycystic liver disease Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene. phenio_relaxed_subqs.owl DOID:0110860 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600666 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3887996 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013029 biolink:NamedThing cerebellar ataxia type 9 phenio_relaxed_subqs.owl DOID:0111747 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010481 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:612876 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3888001 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013555 biolink:NamedThing Hermansky-Pudlak syndrome 3 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene. phenio_relaxed_subqs.owl DOID:0060541 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614072 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3888004 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013557 biolink:NamedThing Hermansky-Pudlak syndrome 5 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene. phenio_relaxed_subqs.owl DOID:0060543 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614074 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3888007 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013558 biolink:NamedThing Hermansky-Pudlak syndrome 6 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene. phenio_relaxed_subqs.owl DOID:0060544 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C150369 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614075 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3888026 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013560 biolink:NamedThing Hermansky-Pudlak syndrome 8 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene. phenio_relaxed_subqs.owl UMLS:CN201510 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060546 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614077 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:231537 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3888065 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007509 biolink:NamedThing ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant phenio_relaxed_subqs.owl DOID:0111663 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002048 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:129490 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3888076 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010764 biolink:NamedThing hearing loss, Y-linked 1 phenio_relaxed_subqs.owl DOID:0111759 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:400043 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3888211 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012021 biolink:NamedThing myopia 17, autosomal dominant phenio_relaxed_subqs.owl OMIM:608367 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3888212 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070010 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613676 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3888244 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014367 biolink:NamedThing Aicardi-Goutieres syndrome 7 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene. phenio_relaxed_subqs.owl OMIM:615846 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3888338 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008328 biolink:NamedThing glaucoma 1, open angle, P phenio_relaxed_subqs.owl OMIM:177700 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3888385 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013938 biolink:NamedThing peroxisome biogenesis disorder 7A (Zellweger) phenio_relaxed_subqs.owl DOID:0080482 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614872 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3888924 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203590 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722302009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:308552 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3889474 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110138 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615993 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3889475 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110141 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615996 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3889636 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014410 biolink:NamedThing spinocerebellar ataxia type 37 Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by a cerebellar syndrome along with altered vertical eye movements. phenio_relaxed_subqs.owl UMLS:C4304821 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050984 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012368 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615945 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719301002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:363710 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3890591 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111125 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615862 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3890733 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019435 biolink:NamedThing rheumatoid factor-positive polyarticular juvenile idiopathic arthritis A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor. phenio_relaxed_subqs.owl NCIT:C119034 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:85435 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3890941 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207196 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C116929 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715770009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98918 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3891449 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024548 biolink:NamedThing peeling skin syndrome 1 Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene. phenio_relaxed_subqs.owl UMLS:CN202306 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:270300 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:263553 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3891452 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070009 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615807 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3891556 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN237731 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300942 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_768472004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:448372 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3891714 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017807 biolink:NamedThing growing teratoma syndrome A condition characterized by the presence of a growing mature teratoma in a patient during or after chemotherapy for a non-seminomatous germ cell tumor, with normal serum markers for human chorionic gonadotropin and alpha fetoprotein. Complete surgical resection is the preferred treatment. phenio_relaxed_subqs.owl UMLS:CN203773 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C118370 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314613 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3892039 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110127 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010204 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615983 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009025 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3896578 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018604 biolink:NamedThing familial colorectal cancer type X Hereditary nonpolyposis colorectal cancer characterized by the absence of germline mutations in DNA mismatch-repair genes. phenio_relaxed_subqs.owl UMLS:CN237636 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C120084 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:440437 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3896673 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227215 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008566 biolink:NamedThing thyroid cancer, nonmedullary, 2 phenio_relaxed_subqs.owl NCIT:C118829 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:319487 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3898222 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050929 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C114828 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3898582 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206685 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006005 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C115200 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93685 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3899503 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015770 biolink:NamedThing congenital hypogonadotropic hypogonadism Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH). phenio_relaxed_subqs.owl MONDO:0016384 biolink:NamedThing hypogonadotropic hypogonadism-frontoparietal alopecia syndrome This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. phenio_relaxed_subqs.owl MONDO:0016393 biolink:NamedThing hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. phenio_relaxed_subqs.owl MONDO:0016515 biolink:NamedThing Kallmann syndrome-heart disease syndrome Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome. phenio_relaxed_subqs.owl MONDO:0016553 biolink:NamedThing isolated congenital hypogonadotropic hypogonadism A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0017406 biolink:NamedThing hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome phenio_relaxed_subqs.owl MONDO:0018354 biolink:NamedThing Prader-Willi-like syndrome Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities. phenio_relaxed_subqs.owl MONDO:0019505 biolink:NamedThing hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterised by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. phenio_relaxed_subqs.owl NCIT:C120162 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722944006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:174590 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3899673 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0022642 biolink:NamedThing childhood carcinoid tumor A rare carcinoid tumor that occurs during childhood. phenio_relaxed_subqs.owl OBO:GARD_0009315 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C118810 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C3900122 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615961 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721074002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:140941 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4011788 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010857 biolink:NamedThing semantic dementia Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes. phenio_relaxed_subqs.owl MONDO:0014640 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 3 An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35. phenio_relaxed_subqs.owl OBO:SCTID_716994006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:275864 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4012050 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:235510 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4012395 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010490 biolink:NamedThing SSR4-CDG A form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4(Xq28). phenio_relaxed_subqs.owl DOID:0070257 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012405 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300934 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733115009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:370927 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4013947 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017902 biolink:NamedThing autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM). phenio_relaxed_subqs.owl OMIM:614889 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014233 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014334 biolink:NamedThing severe combined immunodeficiency due to LCK deficiency phenio_relaxed_subqs.owl OMIM:615758 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:280142 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014239 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615760 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:404437 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014258 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615767 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:477661 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014283 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014341 biolink:NamedThing complex cortical dysplasia with other brain malformations 6 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene. phenio_relaxed_subqs.owl DOID:0090136 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615771 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014291 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014342 biolink:NamedThing female infertility due to zona pellucida defect Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa. phenio_relaxed_subqs.owl OMIM:615774 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:404466 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014310 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014344 biolink:NamedThing congenital heart defects, multiple types, 4 Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene. phenio_relaxed_subqs.owl OMIM:615779 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014339 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615789 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014361 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060612 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615812 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014393 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615821 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014408 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014356 biolink:NamedThing mitochondrial complex III deficiency nuclear type 7 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene. phenio_relaxed_subqs.owl DOID:0080116 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615824 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014425 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014359 biolink:NamedThing pigmented nodular adrenocortical disease, primary, 4 Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKACA gene. phenio_relaxed_subqs.owl OMIM:615830 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014440 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014364 biolink:NamedThing mitochondrial complex III deficiency nuclear type 8 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the LYRM7 gene. phenio_relaxed_subqs.owl DOID:0080117 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615838 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014479 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080328 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615849 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:420584 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014488 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014370 biolink:NamedThing pontocerebellar hypoplasia type 2E Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene. phenio_relaxed_subqs.owl DOID:0060271 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615851 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014507 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080386 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615861 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014528 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070057 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615866 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014534 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110600 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615872 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014578 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014385 biolink:NamedThing amelogenesis imperfecta hypomaturation type 2A5 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene. phenio_relaxed_subqs.owl DOID:0110063 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615887 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014584 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111051 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615888 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:420566 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014588 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615889 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014605 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615895 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:397937 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014617 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014391 biolink:NamedThing severe combined immunodeficiency due to CTPS1 deficiency Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens. phenio_relaxed_subqs.owl OMIM:615897 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763623001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:420573 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014628 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014393 biolink:NamedThing lymphatic malformation 4 Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene. phenio_relaxed_subqs.owl DOID:0070209 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615907 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014641 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615909 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014648 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014395 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 2 An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. phenio_relaxed_subqs.owl DOID:0060214 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615911 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014660 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014397 biolink:NamedThing combined oxidative phosphorylation defect type 20 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene. phenio_relaxed_subqs.owl DOID:0111478 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615917 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:420728 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014668 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014398 biolink:NamedThing combined oxidative phosphorylation defect type 21 Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver. phenio_relaxed_subqs.owl DOID:0111465 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615918 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763211004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009032 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:420733 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014676 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014399 biolink:NamedThing ataxia-telangiectasia-like disorder 2 phenio_relaxed_subqs.owl OMIM:615919 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:438134 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014700 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615924 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:363400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014708 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615926 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:370006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014722 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4040879 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111457 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012357 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615934 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_711164003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:425120 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014762 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014411 biolink:NamedThing myopia 24, autosomal dominant phenio_relaxed_subqs.owl OMIM:615946 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014767 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111420 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615947 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:535458 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014780 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014413 biolink:NamedThing orofaciodigital syndrome type 14 Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated. phenio_relaxed_subqs.owl OMIM:615948 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763837007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:434179 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014795 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615952 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:438159 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014803 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111624 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615954 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014812 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014417 biolink:NamedThing spinocerebellar ataxia type 38 Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy. phenio_relaxed_subqs.owl UMLS:C4518337 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050985 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012369 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615957 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_734021001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009056 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:423296 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014814 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111222 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615959 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014833 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014423 biolink:NamedThing severe combined immunodeficiency due to DNA-PKcs deficiency Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation. phenio_relaxed_subqs.owl OMIM:615966 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716871006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:317425 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014869 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070206 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013126 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615980 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:435660 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014934 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616005 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014939 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014942 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014455 biolink:NamedThing cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome phenio_relaxed_subqs.owl OMIM:616007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:436174 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014954 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014456 biolink:NamedThing autosomal recessive severe congenital neutropenia due to JAGN1 deficiency phenio_relaxed_subqs.owl OMIM:616022 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:423384 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014958 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616025 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014962 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616026 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014987 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616029 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:423454 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4014988 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090081 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616030 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015016 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110624 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616037 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015019 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080075 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616038 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015029 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110203 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616039 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:435998 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015038 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110659 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616040 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015062 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111143 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020727 biolink:NamedThing combined oxidative phosphorylation deficiency 22 phenio_relaxed_subqs.owl MONDO:0027069 biolink:NamedThing mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 phenio_relaxed_subqs.owl MONDO:0032869 biolink:NamedThing mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 phenio_relaxed_subqs.owl OBO:OMIMPS_604273 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:254913 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015067 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014472 biolink:NamedThing periodic fever-infantile enterocolitis-autoinflammatory syndrome phenio_relaxed_subqs.owl OMIM:616050 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:436166 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015080 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070283 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616051 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015095 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014474 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2U Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene. phenio_relaxed_subqs.owl DOID:0110295 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616052 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:352479 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015128 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014479 biolink:NamedThing porokeratosis 8, disseminated superficial actinic type phenio_relaxed_subqs.owl OMIM:616063 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015129 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111770 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616067 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015130 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014481 biolink:NamedThing inflammatory skin and bowel disease, neonatal, 2 Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the EGFR gene. phenio_relaxed_subqs.owl OMIM:616069 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015156 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070284 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616080 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015172 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014487 biolink:NamedThing congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful. phenio_relaxed_subqs.owl DOID:0080209 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616084 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:369861 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015183 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616087 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015184 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014489 biolink:NamedThing limb-girdle muscular dystrophy due to POMK deficiency Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence. phenio_relaxed_subqs.owl OMIM:616094 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:445110 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015186 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014490 biolink:NamedThing ketoacidosis due to monocarboxylate transporter-1 deficiency phenio_relaxed_subqs.owl OMIM:616095 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:438075 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015195 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616098 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015202 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014492 biolink:NamedThing woolly hair-palmoplantar keratoderma syndrome Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent. phenio_relaxed_subqs.owl OMIM:616099 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764108000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:420686 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015214 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012316 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C126341 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616100 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:436159 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015253 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014496 biolink:NamedThing mitochondrial complex III deficiency nuclear type 9 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene. phenio_relaxed_subqs.owl DOID:0080118 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616111 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015261 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616113 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:453533 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015276 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090065 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616115 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015286 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014501 biolink:NamedThing macular degeneration, early-onset phenio_relaxed_subqs.owl OMIM:616118 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015307 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616138 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015316 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080444 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616139 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015323 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060791 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616140 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:438114 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015344 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616154 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:438178 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015349 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110171 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616155 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:443073 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015360 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014513 biolink:NamedThing nemaline myopathy 10 Any nemaline myopathy in which the cause of the disease is a mutation in the LMOD3 gene. phenio_relaxed_subqs.owl DOID:0110931 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616165 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015409 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014520 biolink:NamedThing 46,XX ovarian dysgenesis-short stature syndrome phenio_relaxed_subqs.owl DOID:0080496 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616185 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:444048 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015436 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616192 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:445062 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015447 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014525 biolink:NamedThing combined oxidative phosphorylation defect type 23 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene. phenio_relaxed_subqs.owl DOID:0111500 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616198 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009033 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:444013 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015452 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616199 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:456369 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015461 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111264 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616200 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:435953 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015474 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060339 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012281 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616201 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720507006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:435988 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015495 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014529 biolink:NamedThing cerebellar-facial-dental syndrome phenio_relaxed_subqs.owl UMLS:CN221667 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616202 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009030 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:444072 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015505 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014530 biolink:NamedThing autosomal recessive spinocerebellar ataxia 18 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected. phenio_relaxed_subqs.owl DOID:0080042 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616204 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:363432 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015513 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616209 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:457050 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015542 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111126 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616217 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015557 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014540 biolink:NamedThing amelogenesis imperfecta type 1H Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene. phenio_relaxed_subqs.owl DOID:0110064 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616221 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015558 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014541 biolink:NamedThing motor developmental delay due to 14q32.2 paternally expressed gene defect A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father. phenio_relaxed_subqs.owl DOID:0111713 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016780 biolink:NamedThing paternal 14q32.2 microdeletion syndrome phenio_relaxed_subqs.owl MONDO:0016782 biolink:NamedThing paternal 14q32.2 hypomethylation syndrome phenio_relaxed_subqs.owl MONDO:0019915 biolink:NamedThing maternal uniparental disomy of chromosome 14 Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum). phenio_relaxed_subqs.owl NCIT:C120409 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616222 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:254516 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015596 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110658 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616227 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015597 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014543 biolink:NamedThing congenital myasthenic syndrome 14 Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene. phenio_relaxed_subqs.owl DOID:0110669 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616228 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015619 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014545 biolink:NamedThing progressive myoclonic epilepsy type 8 Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene. phenio_relaxed_subqs.owl DOID:0111451 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616230 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:424027 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015624 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014546 biolink:NamedThing myopathy due to calsequestrin and SERCA1 protein overload Myopathy due to calsequestrin and SERCA1 protein overload is characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms. phenio_relaxed_subqs.owl UMLS:C4510368 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616231 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724095006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:88635 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015635 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110160 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616233 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617017 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:443950 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015643 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014547 biolink:NamedThing combined oxidative phosphorylation defect type 24 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the NARS2 gene. phenio_relaxed_subqs.owl DOID:0111485 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616239 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009034 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:444458 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015671 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110655 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616247 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015695 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110656 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616249 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015701 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616258 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:439897 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015710 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616260 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015728 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:8000012 biolink:NamedThing neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 phenio_relaxed_subqs.owl OMIM:616263 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:456312 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4015729 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014555 biolink:NamedThing peeling skin syndrome type A Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin. phenio_relaxed_subqs.owl OMIM:616265 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:263548 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4017171 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014619 biolink:NamedThing trichothiodystrophy 3, photosensitive phenio_relaxed_subqs.owl OMIM:616395 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4023190 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019860 biolink:NamedThing thyroid hemiagenesis Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. phenio_relaxed_subqs.owl OBO:SCTID_715734006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:95719 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4024851 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017675 biolink:NamedThing punctate palmoplantar keratoderma A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution. phenio_relaxed_subqs.owl DOID:0060361 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007858 biolink:NamedThing palmoplantar keratoderma, punctate type 1A Any punctate palmoplantar keratoderma in which the cause of the disease is a mutation in the AAGAB gene. phenio_relaxed_subqs.owl MONDO:0016518 biolink:NamedThing isolated punctate palmoplantar keratoderma A punctate palmoplantar keratoderma that is not part of a larger syndrome. phenio_relaxed_subqs.owl OBO:SCTID_402773000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:307967 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4024957 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019079 biolink:NamedThing proximal spinal muscular atrophy Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. phenio_relaxed_subqs.owl UMLS:CN205570 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004531 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009669 biolink:NamedThing spinal muscular atrophy, type 1 A severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. phenio_relaxed_subqs.owl MONDO:0009673 biolink:NamedThing spinal muscular atrophy, type II Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. phenio_relaxed_subqs.owl MONDO:0010056 biolink:NamedThing spinal muscular atrophy, type IV Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. phenio_relaxed_subqs.owl EFO:0008929 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:70 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4039413 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_712657002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000943 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4040907 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020467 biolink:NamedThing mosaic monosomy X phenio_relaxed_subqs.owl UMLS:CN776903 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_710010005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99228 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4048196 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009562 biolink:NamedThing beta-mannosidosis Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. phenio_relaxed_subqs.owl DOID:3633 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000869 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D044905 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84596 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:248510 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238047006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:118 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4048306 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN073359 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003830 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_258.02 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C123329 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_61808009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:653 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4048705 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050544 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_43123004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4048809 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:162091 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4053506 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017408 biolink:NamedThing rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome A very rare disorder that appears after the first year and a half of life in previously healthy children. It is characterized by rapid-onset weight gain, hypothalamic dysfunction, breathing abnormalities, and autonomic system dysregulation. The hypothalamic dysfunction manifestations include inability to maintain normal water balance, high prolactin levels, low thyroid, low cortisol, and early or late puberty. The breathing abnormalities include sleep apnea and alveolar hypoventilation, requiring ventilation support. The autonomic system dysregulation includes eye abnormalities, intestinal abnormalities, temperature dysregulation, and low heart rhythm. This disorder requires early recognition because it may lead to cardiorespiratory arrest. Up to 40% of the patients develop tumors of neural crest origin. phenio_relaxed_subqs.owl UMLS:CN203158 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010407 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C121944 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:293987 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4053775 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206776 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013209 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C121150 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715727009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:95496 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4054287 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C121953 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000424 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4072980 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019516 biolink:NamedThing exudative vitreoretinopathy Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness. phenio_relaxed_subqs.owl DOID:0050535 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001613 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C580083 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014652 biolink:NamedThing exudative vitreoretinopathy 6 Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the ZNF408 gene. phenio_relaxed_subqs.owl MONDO:0033123 biolink:NamedThing exudative vitreoretinopathy 7 phenio_relaxed_subqs.owl OBO:OMIMPS_133780 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_232063007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:891 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4075997 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_91441000119109 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4076194 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111619 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615182 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_713401006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:356978 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4078288 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563928 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608445 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4082167 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205072 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005657 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C116917 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717231003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:42642 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4082198 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562753 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:161480 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4082793 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015761 biolink:NamedThing trisomy 10p Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10. phenio_relaxed_subqs.owl OBO:GARD_0005299 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538290 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717157006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:171929 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4084821 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014566 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2U Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated. phenio_relaxed_subqs.owl DOID:0110173 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616280 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_765046002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:397735 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4084822 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014664 biolink:NamedThing Joubert syndrome 23 Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene. phenio_relaxed_subqs.owl DOID:0110992 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616490 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4084840 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111081 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616435 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4084841 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014724 biolink:NamedThing Joubert syndrome 24 Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN2 gene. phenio_relaxed_subqs.owl DOID:0110993 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616654 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4084842 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014770 biolink:NamedThing Joubert syndrome 25 Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene. phenio_relaxed_subqs.owl DOID:0110994 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616781 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4084843 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014771 biolink:NamedThing Joubert syndrome 26 Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0556 gene. phenio_relaxed_subqs.owl DOID:0110995 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616784 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4085238 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014633 biolink:NamedThing myoclonic-atonic epilepsy phenio_relaxed_subqs.owl OMIM:616421 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4085243 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300960 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:401973 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4085249 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014571 biolink:NamedThing optic atrophy 9 phenio_relaxed_subqs.owl DOID:0111442 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616289 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4085250 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014792 biolink:NamedThing Paget disease of bone 6 phenio_relaxed_subqs.owl OMIM:616833 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4085251 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011183 biolink:NamedThing Paget disease of bone 2, early-onset phenio_relaxed_subqs.owl OMIM:602080 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4085252 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008176 biolink:NamedThing Paget disease of bone 3 phenio_relaxed_subqs.owl OBO:GARD_0004191 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:167250 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4085582 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010497 biolink:NamedThing intellectual disability, X-linked 102 An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features. phenio_relaxed_subqs.owl OBO:GARD_0012715 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129931 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300958 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4085597 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014609 biolink:NamedThing cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome phenio_relaxed_subqs.owl OBO:GARD_0012845 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616368 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764455002 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009031 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:444077 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4085873 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616831 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4086533 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0023528 biolink:NamedThing KSHV inflammatory cytokine syndrome A syndrome caused by Kaposi sarcoma-associated herpesvirus (KSHV) infection. It manifests with fever, weight loss, and fluid retention in the legs or abdomen. Patients are at risk of developing KSHV-related cancers including Kaposi sarcoma and lymphoma. phenio_relaxed_subqs.owl OBO:GARD_0010827 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C125711 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225153 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009783 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene. phenio_relaxed_subqs.owl DOID:0111522 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001191 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:258450 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225154 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014667 biolink:NamedThing cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene. phenio_relaxed_subqs.owl DOID:0080359 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225157 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616415 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:454840 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225158 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014626 biolink:NamedThing spinocerebellar ataxia type 41 Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging. phenio_relaxed_subqs.owl DOID:0111744 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616410 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009058 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:458798 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225161 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014823 biolink:NamedThing hypotonia, infantile, with psychomotor retardation and characteristic facies 3 A rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features. phenio_relaxed_subqs.owl OMIM:616900 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:488632 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225162 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616897 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:457378 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225163 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014820 biolink:NamedThing mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the OPA1 gene. phenio_relaxed_subqs.owl DOID:0080336 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616896 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225164 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060767 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616894 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225165 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080381 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616893 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225166 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080387 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616892 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225167 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014816 biolink:NamedThing split-foot malformation-mesoaxial polydactyly syndrome phenio_relaxed_subqs.owl OMIM:616890 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:488232 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225169 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014814 biolink:NamedThing advanced sleep phase syndrome 3 Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER3 gene. phenio_relaxed_subqs.owl DOID:0110013 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616882 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225170 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060795 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616881 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225171 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN776869 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013423 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616878 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:480864 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225172 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616875 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225173 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616873 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:317473 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225178 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014803 biolink:NamedThing spasticity-ataxia-gait anomalies syndrome phenio_relaxed_subqs.owl OMIM:616859 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:401866 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225179 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616858 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225180 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014801 biolink:NamedThing even-plus syndrome phenio_relaxed_subqs.owl OMIM:616854 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:496751 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225181 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014800 biolink:NamedThing progressive scapulohumeroperoneal distal myopathy phenio_relaxed_subqs.owl OMIM:616852 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:447977 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225184 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014797 biolink:NamedThing lymphatic malformation 6 phenio_relaxed_subqs.owl OMIM:616843 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009153 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225186 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014796 biolink:NamedThing autosomal recessive early-onset Parkinson disease 23 Any young-onset Parkinson disease in which the cause of the disease is a mutation in the VPS13C gene. phenio_relaxed_subqs.owl DOID:0060896 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616840 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225187 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616839 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225188 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014794 biolink:NamedThing Meier-Gorlin syndrome 6 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene. phenio_relaxed_subqs.owl DOID:0080517 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616835 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225189 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616834 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:488168 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225190 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014790 biolink:NamedThing TMEM199-CDG phenio_relaxed_subqs.owl DOID:0070268 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616829 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:466703 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225193 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014787 biolink:NamedThing severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome phenio_relaxed_subqs.owl OMIM:616819 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:466688 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225197 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014783 biolink:NamedThing preimplantation embryonic lethality 1 Any preimplantation embryonic lethality in which the cause of the disease is a mutation in the TLE6 gene. phenio_relaxed_subqs.owl OMIM:616814 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225200 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014781 biolink:NamedThing combined oxidative phosphorylation deficiency 29 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene. phenio_relaxed_subqs.owl DOID:0111501 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616811 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225201 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616809 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225202 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616803 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:530983 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225203 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014777 biolink:NamedThing hypotonia, infantile, with psychomotor retardation and characteristic facies 2 Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the UNC80 gene. phenio_relaxed_subqs.owl OMIM:616801 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225205 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014776 biolink:NamedThing spinocerebellar ataxia type 42 phenio_relaxed_subqs.owl DOID:0111742 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0060758 biolink:NamedThing spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits phenio_relaxed_subqs.owl NCIT:C171269 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616795 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009059 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:458803 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225206 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014775 biolink:NamedThing combined oxidative phosphorylation deficiency 28 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene. phenio_relaxed_subqs.owl DOID:0111470 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616794 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:466784 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225210 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0021573 biolink:NamedThing oocyte maturation defect 2 Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene. phenio_relaxed_subqs.owl OMIM:616780 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225211 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014768 biolink:NamedThing cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 Any CADASIL in which the cause of the disease is a mutation in the HTRA1 gene. phenio_relaxed_subqs.owl DOID:0111036 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616779 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225212 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070005 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616777 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225213 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616763 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225215 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014764 biolink:NamedThing spastic paraplegia-severe developmental delay-epilepsy syndrome Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement. phenio_relaxed_subqs.owl OMIM:616756 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:464282 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225217 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616749 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225218 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616744 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:476102 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225219 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014760 biolink:NamedThing TFRC-related combined immunodeficiency phenio_relaxed_subqs.owl OMIM:616740 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:476113 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225221 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014758 biolink:NamedThing radioulnar synostosis with amegakaryocytic thrombocytopenia 2 Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene. phenio_relaxed_subqs.owl OMIM:616738 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225222 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014757 biolink:NamedThing macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome phenio_relaxed_subqs.owl OMIM:616737 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:487796 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225223 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014756 biolink:NamedThing tremor, hereditary essential, 5 Any essential tremor in which the cause of the disease is a mutation in the TENM4 gene. phenio_relaxed_subqs.owl DOID:0111432 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616736 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225226 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070245 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616733 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225228 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080385 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616730 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225229 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014751 biolink:NamedThing palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies. phenio_relaxed_subqs.owl OMIM:616728 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:477993 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225230 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110619 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616726 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225231 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014749 biolink:NamedThing tooth agenesis, selective, 7 Any tooth agenesis in which the cause of the disease is a mutation in the LRP6 gene. phenio_relaxed_subqs.owl OMIM:616724 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225233 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014747 biolink:NamedThing familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome phenio_relaxed_subqs.owl OMIM:616722 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:488197 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225234 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014746 biolink:NamedThing SLC39A8-CDG phenio_relaxed_subqs.owl UMLS:CN234734 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070266 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616721 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:468699 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225235 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110673 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616720 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225236 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014744 biolink:NamedThing acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13. phenio_relaxed_subqs.owl DOID:0111155 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616719 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:466794 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225237 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014743 biolink:NamedThing rhizomelic chondrodysplasia punctata type 5 Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene. phenio_relaxed_subqs.owl DOID:0110854 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616716 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:468717 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225238 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080504 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616710 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225243 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110181 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616688 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:466768 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225244 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014735 biolink:NamedThing Charcot-Marie-Tooth disease type 2Y Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the VCP gene. phenio_relaxed_subqs.owl DOID:0110168 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616687 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:435387 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225246 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014733 biolink:NamedThing Charcot-Marie-Tooth disease type 4K SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions). phenio_relaxed_subqs.owl DOID:0110187 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616684 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_765047006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:391351 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225247 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060796 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616683 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:466934 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225248 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014731 biolink:NamedThing seizures-scoliosis-macrocephaly syndrome Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects. phenio_relaxed_subqs.owl OBO:GARD_0009960 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616682 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:466926 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225249 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070289 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616681 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225250 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014729 biolink:NamedThing hereditary spastic paraplegia 75 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the MAG gene. phenio_relaxed_subqs.owl DOID:0110820 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616680 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009018 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:459056 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225251 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014728 biolink:NamedThing combined oxidative phosphorylation defect type 27 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene. phenio_relaxed_subqs.owl DOID:0111489 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616672 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009037 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:477774 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225253 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110176 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616668 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001983 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:466775 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225254 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014725 biolink:NamedThing spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome phenio_relaxed_subqs.owl OMIM:616657 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:447997 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225255 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014723 biolink:NamedThing PMP22-RAI1 contiguous gene duplication syndrome phenio_relaxed_subqs.owl OMIM:616652 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:477817 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225256 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080458 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616647 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:457375 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225260 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014715 biolink:NamedThing primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis. phenio_relaxed_subqs.owl OMIM:616636 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:431166 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225261 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014714 biolink:NamedThing progressive microcephaly-seizures-cortical blindness-developmental delay syndrome Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal. phenio_relaxed_subqs.owl OMIM:616632 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:477814 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225262 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014713 biolink:NamedThing porokeratosis 9, multiple types Any porokeratosis (disease) in which the cause of the disease is a mutation in the FDPS gene. phenio_relaxed_subqs.owl OMIM:616631 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225263 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014712 biolink:NamedThing Senior-Loken syndrome 9 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene. phenio_relaxed_subqs.owl OMIM:616629 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225265 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014711 biolink:NamedThing autosomal dominant Charcot-Marie-Tooth disease type 2W Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the HARS gene. phenio_relaxed_subqs.owl DOID:0110162 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616625 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:488333 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225268 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070131 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616603 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225272 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014702 biolink:NamedThing autosomal recessive complex spastic paraplegia type 9B Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene. phenio_relaxed_subqs.owl DOID:0110825 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616586 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:447760 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225273 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616583 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:459051 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225277 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616576 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225279 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014694 biolink:NamedThing spondylocostal dysostosis 6, autosomal recessive Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the RIPPLY2 gene. phenio_relaxed_subqs.owl OBO:GARD_0012807 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616566 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225280 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060588 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616564 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225282 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060587 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616559 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225284 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070023 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616553 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225286 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110096 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616546 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225288 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014686 biolink:NamedThing short stature, microcephaly, and endocrine dysfunction phenio_relaxed_subqs.owl OMIM:616541 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225290 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014684 biolink:NamedThing combined oxidative phosphorylation defect type 26 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT5 gene. phenio_relaxed_subqs.owl DOID:0111490 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616539 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009036 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:477684 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225291 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014683 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 phenio_relaxed_subqs.owl DOID:0111232 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616538 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225292 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616535 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225293 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616534 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225299 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111111 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616511 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225302 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616505 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009075 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225304 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014668 biolink:NamedThing cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA6 gene. phenio_relaxed_subqs.owl DOID:0080360 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616501 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225305 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060792 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616494 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225306 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110178 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616491 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:447964 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225307 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616489 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225308 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014662 biolink:NamedThing congenital insensitivity to pain-hypohidrosis syndrome A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34. phenio_relaxed_subqs.owl DOID:0070153 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616488 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:478664 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225309 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616487 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225310 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070277 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616486 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225311 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110603 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616481 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225312 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014656 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene. phenio_relaxed_subqs.owl DOID:0111515 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616479 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225313 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616471 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:536516 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225316 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111410 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616468 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225320 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014647 biolink:NamedThing developmental and epileptic encephalopathy, 50 phenio_relaxed_subqs.owl DOID:0080419 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616457 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:448010 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225321 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616455 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225322 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014644 biolink:NamedThing hereditary spastic paraplegia 74 Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported. phenio_relaxed_subqs.owl DOID:0110819 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616451 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:468661 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225325 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014641 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 4 An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14. phenio_relaxed_subqs.owl DOID:0110069 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616439 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225326 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110068 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616437 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225328 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014637 biolink:NamedThing DOCK2 deficiency phenio_relaxed_subqs.owl OBO:GARD_0012653 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616433 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:447737 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225329 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014636 biolink:NamedThing combined oxidative phosphorylation defect type 25 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the MARS2 gene. phenio_relaxed_subqs.owl DOID:0111468 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616430 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009035 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:447954 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225331 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111775 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616425 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225332 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060788 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616420 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225333 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014631 biolink:NamedThing hypomagnesemia, seizures, and intellectual disability phenio_relaxed_subqs.owl MONDO:0020787 biolink:NamedThing hypomagnesemia, seizures, and intellectual disability 1 phenio_relaxed_subqs.owl MONDO:0020788 biolink:NamedThing hypomagnesemia, seizures, and intellectual disability 2 phenio_relaxed_subqs.owl OBO:OMIMPS_616418 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225335 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616413 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225338 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070279 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616402 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225339 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014622 biolink:NamedThing isolated focal non-epidermolytic palmoplantar keratoderma phenio_relaxed_subqs.owl OMIM:616400 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:448264 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225340 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110226 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616399 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225344 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014615 biolink:NamedThing trichothiodystrophy 2, photosensitive phenio_relaxed_subqs.owl OMIM:616390 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225346 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014613 biolink:NamedThing pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the RTEL1 gene. phenio_relaxed_subqs.owl OMIM:616373 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225347 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014612 biolink:NamedThing pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the PARN gene. phenio_relaxed_subqs.owl OMIM:616371 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225348 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080136 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616370 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:457406 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225349 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014608 biolink:NamedThing mandibulofacial dysostosis with alopecia A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia. phenio_relaxed_subqs.owl DOID:0060365 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616367 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:443995 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225353 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111251 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616361 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225356 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070024 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616353 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225357 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080437 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616346 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225358 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616345 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225360 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080465 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616341 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225363 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014591 biolink:NamedThing autosomal dominant Robinow syndrome 2 Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene. phenio_relaxed_subqs.owl DOID:0060765 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616331 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225364 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110683 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616330 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225365 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111110 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616329 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225368 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110670 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616325 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225369 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014586 biolink:NamedThing congenital myasthenic syndrome 4B A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. phenio_relaxed_subqs.owl DOID:0110677 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616324 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225370 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014585 biolink:NamedThing congenital myasthenic syndrome 3C A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in compound heterozygous mutation in the CHRND gene on chromosome 2q37. phenio_relaxed_subqs.owl DOID:0110664 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616323 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225371 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014584 biolink:NamedThing congenital myasthenic syndrome 3B A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has material basis in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37. phenio_relaxed_subqs.owl DOID:0110665 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616322 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225372 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014583 biolink:NamedThing congenital myasthenic syndrome 3A A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37. phenio_relaxed_subqs.owl DOID:0110666 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616321 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225373 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014582 biolink:NamedThing congenital myasthenic syndrome 2C A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13. phenio_relaxed_subqs.owl DOID:0110680 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616314 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225374 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014581 biolink:NamedThing congenital myasthenic syndrome 2A A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous mutation in the CHRNB1 gene on chromosome 17p13. phenio_relaxed_subqs.owl DOID:0110681 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009895 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616313 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225376 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014579 biolink:NamedThing Senior-Loken syndrome 8 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene. phenio_relaxed_subqs.owl OMIM:616307 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225377 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110674 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616304 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225378 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110093 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225379 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014576 biolink:NamedThing lipoyl transferase 1 deficiency phenio_relaxed_subqs.owl OMIM:616299 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:401862 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225380 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616298 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225381 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014574 biolink:NamedThing peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome phenio_relaxed_subqs.owl OMIM:616295 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:444138 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225382 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616294 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225387 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014568 biolink:NamedThing hereditary spastic paraplegia 73 Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies. phenio_relaxed_subqs.owl DOID:0110818 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616282 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:444099 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225391 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014563 biolink:NamedThing mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency phenio_relaxed_subqs.owl OBO:GARD_0013019 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616277 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225392 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070244 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616276 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:457185 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225393 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110003 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616271 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764860006 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009014 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:445038 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225394 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014560 biolink:NamedThing amelogenesis imperfecta type 1F Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMBN gene. phenio_relaxed_subqs.owl DOID:0110065 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616270 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225397 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014557 biolink:NamedThing ataxia - oculomotor apraxia type 4 Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene. phenio_relaxed_subqs.owl OBO:GARD_0013111 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616267 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009016 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:459033 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225398 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616266 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001868 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:562528 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225399 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616255 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225415 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010782 biolink:NamedThing myopathy, lactic acidosis, and sideroblastic anemia 3 phenio_relaxed_subqs.owl DOID:0111184 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:500011 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225420 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300953 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225422 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300946 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225427 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:182250 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225429 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002088 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715318006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:287 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225449 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014707 biolink:NamedThing 14q32 duplication syndrome 14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed. phenio_relaxed_subqs.owl OMIM:616604 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:488280 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225666 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014822 biolink:NamedThing 15q14 microdeletion syndrome 15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism. phenio_relaxed_subqs.owl UMLS:C4305230 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616898 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719575008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261190 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225667 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014805 biolink:NamedThing Hao-Fountain syndrome A neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging. The cause of the disease is a mutation in the USP7 gene. phenio_relaxed_subqs.owl OMIM:616863 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:500055 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4225670 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008794 biolink:NamedThing anhidrosis, familial generalized, with abnormal or absent sweat glands phenio_relaxed_subqs.owl OMIM:206600 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4255088 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:174050 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716196007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4273673 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019995 biolink:NamedThing peripheral resistance to thyroid hormones Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth. phenio_relaxed_subqs.owl UMLS:CN206931 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012734 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718193005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:97927 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4273860 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009224 biolink:NamedThing fetal iodine syndrome Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH). phenio_relaxed_subqs.owl OBO:GARD_0002304 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:228355 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718228001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1910 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4273897 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018205 biolink:NamedThing distal monosomy 1q 1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies. phenio_relaxed_subqs.owl OBO:SCTID_717633007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:36367 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4273913 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717334008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:95717 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4273914 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019857 biolink:NamedThing congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent. phenio_relaxed_subqs.owl OBO:SCTID_717333002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:95715 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4273964 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005757 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012665 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535979 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017839 biolink:NamedThing classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency. phenio_relaxed_subqs.owl MONDO:0017840 biolink:NamedThing classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting. phenio_relaxed_subqs.owl NCIT:C131087 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:201910 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_124221007 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717261006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90794 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4273966 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019580 biolink:NamedThing papular mucinosis of infancy Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk. phenio_relaxed_subqs.owl OBO:SCTID_717259002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90395 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4273967 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019579 biolink:NamedThing discrete papular lichen myxedematosus Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk. phenio_relaxed_subqs.owl OBO:SCTID_717258005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90394 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4273968 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019578 biolink:NamedThing nodular lichen myxedematosus Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption. phenio_relaxed_subqs.owl OBO:SCTID_717257000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90393 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4273988 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019448 biolink:NamedThing benign adult familial myoclonic epilepsy Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. phenio_relaxed_subqs.owl UMLS:CN206220 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717225001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:86814 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4274017 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019655 biolink:NamedThing sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis phenio_relaxed_subqs.owl MONDO:0019656 biolink:NamedThing sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis phenio_relaxed_subqs.owl MONDO:0019986 biolink:NamedThing sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy phenio_relaxed_subqs.owl OBO:SCTID_717191005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:84271 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4274074 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016806 biolink:NamedThing maternally-inherited mitochondrial dystonia Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity. phenio_relaxed_subqs.owl OBO:SCTID_717054001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:254851 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4274077 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008785 biolink:NamedThing sideroblastic anemia 2 phenio_relaxed_subqs.owl MONDO:0014804 biolink:NamedThing sideroblastic anemia 3 phenio_relaxed_subqs.owl OBO:SCTID_717050005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:260305 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4274078 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016988 biolink:NamedThing hyperinsulinism due to HNF4A deficiency Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1). phenio_relaxed_subqs.owl OBO:SCTID_717048002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:263455 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4274079 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017165 biolink:NamedThing bile acid CoA ligase deficiency and defective amidation Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure. phenio_relaxed_subqs.owl OBO:SCTID_717047007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:276066 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4274080 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017184 biolink:NamedThing autosomal dominant hyperinsulinism due to SUR1 deficiency Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism). phenio_relaxed_subqs.owl UMLS:CN202625 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717046003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:276575 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4274081 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202626 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717045004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:276580 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4274082 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017189 biolink:NamedThing adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide phenio_relaxed_subqs.owl OBO:SCTID_717044000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:276608 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4274083 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717043006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:280065 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4274085 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017264 biolink:NamedThing syndromic recessive X-linked ichthyosis Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome. phenio_relaxed_subqs.owl UMLS:CN202782 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717041008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:281090 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4274223 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716865000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:292 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4274329 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN197382 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716708005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100974 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4274344 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016317 biolink:NamedThing limbic encephalitis with NMDA receptor antibodies Limbic encephalitis with anti-N-methyl-D-aspartate (NMDA) receptor antibodies is a recently described type of encephalitis affecting young women with teratoma of ovary and associated with antibodies that react with neuronal cell surface auto-antigens. phenio_relaxed_subqs.owl UMLS:CN201135 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716684004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:217253 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4274357 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019094 biolink:NamedThing congenital Epstein-Barr virus infection Congenital Epstein-Barr virus (EBV) infection causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection. phenio_relaxed_subqs.owl OBO:SCTID_716660007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:70596 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4274424 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202967 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716588005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:289356 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4274433 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203921 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050202 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716585008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:319213 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4274434 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203927 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050198 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716584007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:319244 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4274761 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200437 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716232002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1797 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4274786 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202651 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716189005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2787 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4274967 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016504 biolink:NamedThing primary unilateral adrenal hyperplasia Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland. phenio_relaxed_subqs.owl OBO:SCTID_715868005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:231580 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4274985 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015390 biolink:NamedThing proboscis lateralis Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly. phenio_relaxed_subqs.owl OBO:SCTID_715828006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:141099 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4275006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207401 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715794009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99852 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4275019 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019358 biolink:NamedThing encephalopathy due to sulfite oxidase deficiency Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. phenio_relaxed_subqs.owl MONDO:0010089 biolink:NamedThing isolated sulfite oxidase deficiency phenio_relaxed_subqs.owl OBO:SCTID_715980003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:833 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4275028 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019924 biolink:NamedThing paternal uniparental disomy of chromosome 20 Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20. phenio_relaxed_subqs.owl OBO:SCTID_715736008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:96194 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4275064 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019617 biolink:NamedThing pituitary deficiency due to empty sella turcica syndrome phenio_relaxed_subqs.owl UMLS:CN206468 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715668008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:91354 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4275068 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015169 biolink:NamedThing chronic diarrhea due to glucoamylase deficiency This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency. phenio_relaxed_subqs.owl OBO:SCTID_716277000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:103907 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4275075 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019321 biolink:NamedThing atypical Werner syndrome A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population. phenio_relaxed_subqs.owl UMLS:CN205977 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0011910 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715633008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79474 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4275138 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016005 biolink:NamedThing indomethacin embryofetopathy Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitisin preterm infants. phenio_relaxed_subqs.owl UMLS:CN200656 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002994 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715430001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1909 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4275146 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001312 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715417002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4275180 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205074 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020489 biolink:NamedThing familial hyperreninemic hypoaldosteronism type 1 phenio_relaxed_subqs.owl MONDO:0035321 biolink:NamedThing late-onset familial hypoaldosteronism A rare form of familial hypoaldosteronism characterized by adult onset of subnormal plasma aldosterone with elevated plasma renin activity, hyperkalemia, metabolic acidosis, and hypotension. Signs and symptoms are typically mild, and affected individuals may be clinically asymptomatic and diagnosed only after biochemical screening. phenio_relaxed_subqs.owl OBO:SCTID_715343000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:427 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4275281 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016015 biolink:NamedThing phenobarbital embryopathy A teratologic disorder associated with intrauterine exposure of phenorbarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases. phenio_relaxed_subqs.owl OBO:GARD_0004315 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715431002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1919 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4284088 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013108 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C147530 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617053 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:494433 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4284093 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111090 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617244 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4284588 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014302 biolink:NamedThing hereditary spastic paraplegia 62 Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some. phenio_relaxed_subqs.owl DOID:0110813 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615681 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_765045003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:401785 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4284592 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015007 biolink:NamedThing spastic paraplegia, intellectual disability, nystagmus, and obesity; phenio_relaxed_subqs.owl OMIM:617296 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:521390 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4284595 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014878 biolink:NamedThing patent ductus arteriosus 2 phenio_relaxed_subqs.owl OMIM:617035 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4284790 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009364 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death. phenio_relaxed_subqs.owl UMLS:CN033898 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111237 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128118 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:236670 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4288002 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128243 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4288048 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016269 biolink:NamedThing high-grade neuroendocrine carcinoma of the corpus uteri High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated. phenio_relaxed_subqs.owl MONDO:0016270 biolink:NamedThing low-grade neuroendocrine tumor of the corpus uteri Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop. phenio_relaxed_subqs.owl NCIT:C126771 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4288922 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128345 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:254509 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4289986 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99763 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4289991 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C128344 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:178487 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4302109 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722870008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:447764 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4302195 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017323 biolink:NamedThing hypocalcemic rickets Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR). phenio_relaxed_subqs.owl UMLS:C4329608 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009924 biolink:NamedThing vitamin D-dependent rickets, type 1 Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia. phenio_relaxed_subqs.owl MONDO:0019642 biolink:NamedThing vitamin D-dependent rickets, type 2 Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia. phenio_relaxed_subqs.owl NCIT:C131421 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722947004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:289103 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4302243 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202712 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722872000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000780 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:280302 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4302508 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722475006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:67044 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4302551 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015769 biolink:NamedThing distal trisomy 6p Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay. phenio_relaxed_subqs.owl OBO:SCTID_722430008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1745 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4302669 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203779 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722292000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314652 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4303082 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017183 biolink:NamedThing hyperinsulinism due to UCP2 deficiency HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution. phenio_relaxed_subqs.owl OBO:SCTID_721834007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:276556 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4303134 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721765009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4303135 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721764008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4303475 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017935 biolink:NamedThing hyperinsulinism due to HNF1A deficiency Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life. phenio_relaxed_subqs.owl OBO:SCTID_721234004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:324575 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4303479 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017683 biolink:NamedThing methylcobalamin deficiency type cblDv1 phenio_relaxed_subqs.owl OBO:SCTID_721225009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:622 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4303482 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017233 biolink:NamedThing familial Alzheimer-like prion disease phenio_relaxed_subqs.owl UMLS:CN202723 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721219005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:280397 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4303527 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018692 biolink:NamedThing variably protease-sensitive prionopathy phenio_relaxed_subqs.owl OBO:SCTID_721165001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:454742 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4303546 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018130 biolink:NamedThing brain dopamine-serotonin vesicular transport disease Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. phenio_relaxed_subqs.owl UMLS:CN204508 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717942003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:352649 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4303566 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015354 biolink:NamedThing hereditary sensory and autonomic neuropathy with deafness and global delay This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay. phenio_relaxed_subqs.owl UMLS:CN226662 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717826009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:139573 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4303810 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002479 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720814001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1535 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4304022 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204519 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720520009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:352723 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4304347 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719907006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4304504 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016458 biolink:NamedThing 8q12 microduplication syndrome The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly. phenio_relaxed_subqs.owl UMLS:CN201422 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012816 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719684000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:228399 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4304526 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201426 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719665003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:228415 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4304540 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016561 biolink:NamedThing 1q44 microdeletion syndrome 1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia. phenio_relaxed_subqs.owl UMLS:CN201644 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010943 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719649004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:238769 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4304595 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202173 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013392 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719578005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261243 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4304642 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015350 biolink:NamedThing 17q11.2 microduplication syndrome 17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit. phenio_relaxed_subqs.owl UMLS:CN199408 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:618874 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719583002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:139474 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4304668 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719519007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:71269 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4304672 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016431 biolink:NamedThing autosomal dominant Charcot-Marie-Tooth disease type 2M Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia. phenio_relaxed_subqs.owl UMLS:CN201389 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719514002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:228179 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4304724 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205949 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012921 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719432000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79406 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4304725 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020478 biolink:NamedThing Leber plus disease Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations. phenio_relaxed_subqs.owl UMLS:CN207347 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111754 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719430008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99718 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4304745 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015425 biolink:NamedThing lethal recessive chondrodysplasia Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988. phenio_relaxed_subqs.owl UMLS:CN199522 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001294 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719404009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1423 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4304822 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013485 biolink:NamedThing spinocerebellar ataxia type 35 Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis. phenio_relaxed_subqs.owl UMLS:CN202597 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050982 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012366 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613908 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719300001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:276193 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4304832 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200645 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060280 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010906 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012509 biolink:NamedThing pigmented nodular adrenocortical disease, primary, 1 Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKAR1A gene. phenio_relaxed_subqs.owl NCIT:C131196 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_610489 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719274008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:189439 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4304840 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719267003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:139447 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4305104 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018861 biolink:NamedThing Zellweger-like syndrome without peroxisomal anomalies An extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive. phenio_relaxed_subqs.owl UMLS:CN205183 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718880003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:50812 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4305156 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010033 biolink:NamedThing generalized peeling skin syndrome Generalized peeling skin syndrome (PSS) is a form of PSS presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy. phenio_relaxed_subqs.owl UMLS:CN202304 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012862 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016993 biolink:NamedThing generalized peeling skin syndrome type C phenio_relaxed_subqs.owl OBO:SCTID_718749004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:263543 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4305468 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN197364 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717918002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100084 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4305530 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206679 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300009 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717789008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93622 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310473 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014851 biolink:NamedThing hypercalcemia, infantile, 2 Any hypercalcemia, infantile in which the cause of the disease is a mutation in the SLC34A1 gene. phenio_relaxed_subqs.owl UMLS:CN262351 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN774236 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN847585 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616963 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310614 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014912 biolink:NamedThing infantile-onset periodic fever-panniculitis-dermatosis syndrome phenio_relaxed_subqs.owl DOID:0080163 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013198 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617099 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_765435009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:500062 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310616 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111652 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617337 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310617 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617333 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009070 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310618 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617330 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310620 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617321 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_768667002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310624 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015015 biolink:NamedThing congenital bile acid synthesis defect 6 Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene. phenio_relaxed_subqs.owl DOID:0111067 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617308 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310625 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617306 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:603494 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310627 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015012 biolink:NamedThing mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders phenio_relaxed_subqs.owl OMIM:617303 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:505248 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310628 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015011 biolink:NamedThing optic atrophy 11 Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene. phenio_relaxed_subqs.owl UMLS:CN230145 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111436 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617302 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310631 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617294 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:508529 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310632 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617290 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310633 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015004 biolink:NamedThing dystonia 28, childhood-onset Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene. phenio_relaxed_subqs.owl OMIM:617284 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:589618 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310634 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617282 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:508093 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310640 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111127 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617271 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310643 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014995 biolink:NamedThing neurodevelopmental disorder with hypotonia, seizures, and absent language phenio_relaxed_subqs.owl OMIM:617268 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310644 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617260 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310647 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070008 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617253 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310650 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070000 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617248 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:505208 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310651 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111085 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617247 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310652 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111080 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617243 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310653 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617241 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310654 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110672 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617239 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310655 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014982 biolink:NamedThing myopia 25, autosomal dominant Any myopia (disease) in which the cause of the disease is a mutation in the P4HA2 gene. phenio_relaxed_subqs.owl OMIM:617238 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310656 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617237 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310657 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020778 biolink:NamedThing cone-rod dystrophy and hearing loss 1 phenio_relaxed_subqs.owl MONDO:0020780 biolink:NamedThing cone-rod dystrophy and hearing loss 2 phenio_relaxed_subqs.owl OBO:OMIMPS_617236 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009151 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310658 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617235 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310659 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014978 biolink:NamedThing preimplantation embryonic lethality 2 Any preimplantation embryonic lethality in which the cause of the disease is a mutation in the PADI6 gene. phenio_relaxed_subqs.owl OMIM:617234 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310660 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014977 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2Z An autosomal recessive condition caused by mutation(s) in the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking. phenio_relaxed_subqs.owl UMLS:CN776834 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C142082 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617232 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:480682 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310661 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014976 biolink:NamedThing lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis. phenio_relaxed_subqs.owl DOID:0111488 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617228 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:478049 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310662 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014975 biolink:NamedThing autosomal recessive spastic paraplegia type 78 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATP13A2 gene. phenio_relaxed_subqs.owl OMIM:617225 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:513436 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310663 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617223 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310664 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617222 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310665 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014971 biolink:NamedThing amelogenesis imperfecta, hypomaturation type, IIa6 phenio_relaxed_subqs.owl OMIM:617217 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310667 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617207 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310668 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617205 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310671 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617193 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:496641 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310672 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617190 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310675 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_617186 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310676 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014959 biolink:NamedThing mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant phenio_relaxed_subqs.owl DOID:0080130 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617184 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310677 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617183 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310678 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617182 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310679 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617180 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310682 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617173 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:542306 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310684 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617169 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310686 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617164 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310688 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617159 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310689 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014944 biolink:NamedThing short stature-brachydactyly-obesity-global developmental delay syndrome phenio_relaxed_subqs.owl OMIM:617157 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:464288 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310690 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014943 biolink:NamedThing mitochondrial DNA depletion syndrome 15 (hepatocerebral type); Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene. phenio_relaxed_subqs.owl DOID:0080337 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617156 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310692 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014941 biolink:NamedThing arthrogryposis, distal, with impaired proprioception and touch phenio_relaxed_subqs.owl OMIM:617146 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310693 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617145 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310694 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110661 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617143 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310696 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014936 biolink:NamedThing ZTTK syndrome phenio_relaxed_subqs.owl OMIM:617140 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:500150 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310699 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014934 biolink:NamedThing spinocerebellar ataxia, autosomal recessive 24 Any autosomal dominant cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene. phenio_relaxed_subqs.owl DOID:0111615 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617133 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310702 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617126 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310705 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014928 biolink:NamedThing Joubert syndrome 28 Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene. phenio_relaxed_subqs.owl DOID:0110997 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617121 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310706 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014927 biolink:NamedThing Joubert syndrome 27 Any Joubert syndrome in which the cause of the disease is a mutation in the B9D1 gene. phenio_relaxed_subqs.owl DOID:0110996 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617120 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310707 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617119 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310710 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014923 biolink:NamedThing peeling skin syndrome 5 Any peeling skin syndrome in which the cause of the disease is a mutation in the SERPINB8 gene. phenio_relaxed_subqs.owl OMIM:617115 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310712 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080447 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617113 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310714 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014919 biolink:NamedThing sessile serrated polyposis cancer syndrome phenio_relaxed_subqs.owl OMIM:617108 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310715 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014918 biolink:NamedThing tall stature-intellectual disability-renal anomalies syndrome phenio_relaxed_subqs.owl OMIM:617107 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:500095 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310717 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080442 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617105 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310718 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617102 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310720 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617093 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009155 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:541423 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310721 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110620 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617092 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310722 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110610 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617091 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310723 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070288 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617090 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310724 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617088 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310725 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111557 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C150647 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617087 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310726 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014905 biolink:NamedThing encephalopathy due to defective mitochondrial and peroxisomal fission 2 phenio_relaxed_subqs.owl OMIM:617086 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:485421 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310727 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014904 biolink:NamedThing congenital disorder of glycosylation, type IAA phenio_relaxed_subqs.owl DOID:0080553 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617082 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310730 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014901 biolink:NamedThing tooth agenesis, selective, 8 Any tooth agenesis in which the cause of the disease is a mutation in the WNT10B gene. phenio_relaxed_subqs.owl OMIM:617073 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310731 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014900 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2Y Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy. phenio_relaxed_subqs.owl DOID:0110289 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617072 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_725907002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:424261 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310733 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014899 biolink:NamedThing adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism. phenio_relaxed_subqs.owl DOID:0111516 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617070 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733599009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:329314 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310734 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014898 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene. phenio_relaxed_subqs.owl DOID:0111523 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617069 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310735 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:8000013 biolink:NamedThing portal hypertension, noncirrhotic, 1 phenio_relaxed_subqs.owl OMIM:617068 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310737 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080427 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617065 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310738 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014894 biolink:NamedThing Meier-Gorlin syndrome 7 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene. phenio_relaxed_subqs.owl DOID:0080518 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617063 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310739 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014893 biolink:NamedThing Okur-Chung neurodevelopmental syndrome phenio_relaxed_subqs.owl OMIM:617062 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310741 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014891 biolink:NamedThing hyperuricemic nephropathy, familial juvenile type 4 Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene. phenio_relaxed_subqs.owl OMIM:617056 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310742 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014890 biolink:NamedThing PERCHING syndrome Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the KLHL7 gene. phenio_relaxed_subqs.owl DOID:0080331 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617055 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310743 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617054 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:497906 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310744 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014887 biolink:NamedThing bone marrow failure syndrome 3 Any bone marrow failure syndrome in which the cause of the disease is a mutation in the DNAJC21 gene. phenio_relaxed_subqs.owl OMIM:617052 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310746 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014885 biolink:NamedThing Hermansky-Pudlak syndrome 10 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene. phenio_relaxed_subqs.owl OMIM:617050 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310747 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN776839 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070225 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617049 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:480476 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310750 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014882 biolink:NamedThing hereditary spastic paraplegia 77 Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated. phenio_relaxed_subqs.owl DOID:0110822 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617046 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:466722 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310751 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014881 biolink:NamedThing transketolase deficiency phenio_relaxed_subqs.owl OMIM:617044 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:488618 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310752 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010691 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617041 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310756 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617027 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310761 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014869 biolink:NamedThing hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome phenio_relaxed_subqs.owl OMIM:617021 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:528091 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310763 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014867 biolink:NamedThing spinocerebellar ataxia 43 Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor. phenio_relaxed_subqs.owl DOID:0111745 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617018 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009060 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:497764 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310764 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014865 biolink:NamedThing autosomal recessive severe congenital neutropenia due to CSF3R deficiency phenio_relaxed_subqs.owl OMIM:617014 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:420702 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310765 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080537 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617013 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_768554008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:521406 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310766 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018710 biolink:NamedThing megalencephaly-severe kyphoscoliosis-overgrowth syndrome phenio_relaxed_subqs.owl OMIM:617011 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310767 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310769 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310772 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014857 biolink:NamedThing neurodevelopmental disorder with or without anomalies of the brain, eye, or heart phenio_relaxed_subqs.owl OMIM:616975 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:494344 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310773 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014856 biolink:NamedThing combined oxidative phosphorylation defect type 30 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT10C gene. phenio_relaxed_subqs.owl DOID:0111471 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616974 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009038 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:478042 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310776 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616959 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310778 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014848 biolink:NamedThing TELO2-related intellectual disability-neurodevelopmental disorder phenio_relaxed_subqs.owl OMIM:616954 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009061 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:488642 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310782 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014844 biolink:NamedThing premature ovarian failure 12 Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene. phenio_relaxed_subqs.owl OMIM:616947 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310783 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014843 biolink:NamedThing premature ovarian failure 11 Any primary ovarian failure in which the cause of the disease is a mutation in the ERCC6 gene. phenio_relaxed_subqs.owl OMIM:616946 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310785 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616943 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310786 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616941 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310787 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616939 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310788 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616938 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310790 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110180 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616924 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310791 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616922 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310792 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616921 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310793 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616920 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310794 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616917 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:488635 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310796 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616914 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:300382 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310798 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014829 biolink:NamedThing immunodeficiency-centromeric instability-facial anomalies syndrome 4 Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene. phenio_relaxed_subqs.owl DOID:0090011 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616911 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310799 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014828 biolink:NamedThing immunodeficiency-centromeric instability-facial anomalies syndrome 3 Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the CDCA7 gene. phenio_relaxed_subqs.owl DOID:0090010 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616910 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310800 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014827 biolink:NamedThing autosomal recessive spastic paraplegia type 76 Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration. phenio_relaxed_subqs.owl DOID:0110821 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616907 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009019 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:488594 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310811 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300989 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310812 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010514 biolink:NamedThing combined immunodeficiency due to moesin deficiency phenio_relaxed_subqs.owl OMIM:300988 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:504530 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310818 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010508 biolink:NamedThing intellectual disability, X-linked 103 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KLHL15 gene. phenio_relaxed_subqs.owl OMIM:300982 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310819 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300972 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310820 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110147 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300971 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310833 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014914 biolink:NamedThing Dias-Logan syndrome Any BAFopathy in which the cause of the disease is a mutation in the BCL11A gene. phenio_relaxed_subqs.owl OMIM:617101 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4310943 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617301 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:289863 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4311046 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617219 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4311047 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014825 biolink:NamedThing chromosome 11p13 deletion syndrome, distal phenio_relaxed_subqs.owl OMIM:616902 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4311049 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010507 biolink:NamedThing Xq25 microduplication syndrome phenio_relaxed_subqs.owl OMIM:300979 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:521258 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4316789 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080299 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131296 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4317112 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080298 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0006536 biolink:NamedThing congenital generalized lipodystrophy An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues. phenio_relaxed_subqs.owl NCIT:C131815 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4317154 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN029402 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:112240 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4319932 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617406 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4321247 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014175 biolink:NamedThing mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy. phenio_relaxed_subqs.owl DOID:0080335 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129977 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615418 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4329374 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203398 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562999 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129734 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_143880 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_276645004 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_34225008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:300547 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4329660 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000091 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131506 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4329672 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131423 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4329999 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227583 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005867 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019552 biolink:NamedThing centrifugal lipodystrophy Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving. phenio_relaxed_subqs.owl MONDO:0019553 biolink:NamedThing drug-induced localized lipodystrophy Drug-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin coloration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present. phenio_relaxed_subqs.owl MONDO:0019554 biolink:NamedThing idiopathic localized lipodystrophy Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc). phenio_relaxed_subqs.owl MONDO:0019556 biolink:NamedThing pressure-induced localized lipoatrophy Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present. phenio_relaxed_subqs.owl NCIT:C131814 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79088 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4478372 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN240511 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300991 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479088 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080587 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616224 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479229 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024570 biolink:NamedThing hyperparathyroidism 4 Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene. phenio_relaxed_subqs.owl UMLS:CN240514 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617343 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479246 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617360 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479250 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617364 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479270 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617384 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:508523 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479322 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111650 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617392 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479333 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0044306 biolink:NamedThing neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017}). phenio_relaxed_subqs.owl OMIM:617393 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:500545 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479344 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617394 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:480556 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479353 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0054559 biolink:NamedThing congenital disorder of glycosylation, type IIq phenio_relaxed_subqs.owl DOID:0070269 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617395 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:435934 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479376 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617397 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:481665 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479424 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617408 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479428 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617409 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479431 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617412 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479452 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617425 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479491 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617435 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479504 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617441 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479510 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0044317 biolink:NamedThing premature ovarian failure 13 phenio_relaxed_subqs.owl OMIM:617442 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479548 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617475 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479549 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617478 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479566 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0060490 biolink:NamedThing neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum. phenio_relaxed_subqs.owl OMIM:617481 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:544469 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479588 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0044721 biolink:NamedThing severe combined immunodeficiency due to LAT deficiency phenio_relaxed_subqs.owl OMIM:617514 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:504523 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479599 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617516 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479603 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0060496 biolink:NamedThing neurodevelopmental disorder with hypotonia, neuropathy, and deafness phenio_relaxed_subqs.owl OMIM:617519 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479608 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0054593 biolink:NamedThing microcephaly 18, primary, autosomal dominant phenio_relaxed_subqs.owl DOID:0070295 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617520 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479613 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0056797 biolink:NamedThing neurodevelopmental disorder with midbrain and hindbrain malformations phenio_relaxed_subqs.owl DOID:0080312 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617523 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479618 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080248 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617524 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479619 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080249 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617525 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479620 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080250 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617526 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479631 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0060502 biolink:NamedThing neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies phenio_relaxed_subqs.owl OMIM:617527 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:521426 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479651 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617547 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479653 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080252 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617560 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:527497 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479654 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617561 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479655 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0033046 biolink:NamedThing Meier-Gorlin syndrome 8 phenio_relaxed_subqs.owl DOID:0080255 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617564 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4479656 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080256 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617565 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4505102 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050047 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4509836 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011953 biolink:NamedThing familial acute necrotizing encephalopathy Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen. phenio_relaxed_subqs.owl OBO:GARD_0013232 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608033 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723359002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:88619 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4510302 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724063005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:48435 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4510379 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003573 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724144006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1923 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4510731 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018101 biolink:NamedThing familial primary hypomagnesemia with normocalciuria and normocalcemia Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay. phenio_relaxed_subqs.owl UMLS:CN204443 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_725031005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:34527 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4510744 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016674 biolink:NamedThing 46,XY partial gonadal dysgenesis 46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype. phenio_relaxed_subqs.owl OBO:SCTID_725045004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:251510 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4510874 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019447 biolink:NamedThing atypical lichen myxedematosus Atypical lichen myxedematosus is an intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported. phenio_relaxed_subqs.owl MONDO:0019583 biolink:NamedThing localized lichen myxedematosus with mixed features of different subtypes Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus, characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM. phenio_relaxed_subqs.owl MONDO:0019584 biolink:NamedThing localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus, characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus; a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia. phenio_relaxed_subqs.owl MONDO:0019585 biolink:NamedThing scleromyxedema without monoclonal gammopathy Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus, characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent. phenio_relaxed_subqs.owl OBO:SCTID_725148000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:86797 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4511056 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019521 biolink:NamedThing centripetalis recessive dystrophic epidermolysis bullosa Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB), characterized by blistering which begins acrally and then progressively spreads toward the trunk. phenio_relaxed_subqs.owl OBO:SCTID_725419003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:89841 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4511138 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_725464001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:329336 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4511300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724840004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:158661 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4511302 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011976 biolink:NamedThing lipodystrophy-intellectual disability-deafness syndrome Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. phenio_relaxed_subqs.owl MONDO:0015493 biolink:NamedThing lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy phenio_relaxed_subqs.owl MONDO:0016584 biolink:NamedThing mandibuloacral dysplasia Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy. phenio_relaxed_subqs.owl MONDO:0018883 biolink:NamedThing Berardinelli-Seip congenital lipodystrophy A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance. phenio_relaxed_subqs.owl OBO:SCTID_724841000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98305 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4511307 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017266 biolink:NamedThing keratinopathic ichthyosis phenio_relaxed_subqs.owl MONDO:0007239 biolink:NamedThing epidermolytic ichthyosis A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic. phenio_relaxed_subqs.owl MONDO:0007809 biolink:NamedThing ichthyosis hystrix gravior phenio_relaxed_subqs.owl OBO:SCTID_724837004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:281103 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4511481 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206604 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_725904009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93398 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4512018 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227122 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_726613003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:293807 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4512053 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019873 biolink:NamedThing 4p16.3 microduplication syndrome 4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported. phenio_relaxed_subqs.owl UMLS:CN206808 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_726706008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:96072 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4517289 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016807 biolink:NamedThing pure mitochondrial myopathy Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes. phenio_relaxed_subqs.owl OBO:SCTID_732245008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:254854 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4518082 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020469 biolink:NamedThing 48,XYYY syndrome 48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males. phenio_relaxed_subqs.owl UMLS:CN207331 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0011985 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733625003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99329 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4518087 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015552 biolink:NamedThing acral dystrophic epidermolysis bullosa Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet. phenio_relaxed_subqs.owl UMLS:CN199731 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733638006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:158673 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4518324 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724205009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:137871 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4518336 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014475 biolink:NamedThing spinocerebellar ataxia type 40 Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis. phenio_relaxed_subqs.owl UMLS:CN219009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN237494 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050986 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012371 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:616053 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_734020000 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009057 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:423275 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4518342 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020470 biolink:NamedThing 49,XYYYY syndrome 49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults. phenio_relaxed_subqs.owl UMLS:CN207332 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_734028007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99330 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4518505 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016935 biolink:NamedThing partial duplication of chromosome 17 phenio_relaxed_subqs.owl MONDO:0016950 biolink:NamedThing partial duplication of the short arm of chromosome 17 phenio_relaxed_subqs.owl MONDO:0016967 biolink:NamedThing partial duplication of the long arm of chromosome 17 phenio_relaxed_subqs.owl OBO:SCTID_726356000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:262677 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4518509 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016938 biolink:NamedThing partial trisomy of chromosome 20 phenio_relaxed_subqs.owl MONDO:0016844 biolink:NamedThing trisomy 20p Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features. phenio_relaxed_subqs.owl MONDO:0016970 biolink:NamedThing partial trisomy of the long arm of chromosome 20 phenio_relaxed_subqs.owl OBO:SCTID_726360002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:262692 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4518577 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011090 biolink:NamedThing isolated hereditary congenital facial paralysis Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal. phenio_relaxed_subqs.owl OBO:GARD_0008583 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563309 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_601471 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733091002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:306527 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4518774 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN225944 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733418003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:397715 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4518776 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018339 biolink:NamedThing PrP systemic amyloidosis Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid. phenio_relaxed_subqs.owl OBO:SCTID_733422008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:397606 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4518783 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018349 biolink:NamedThing MAN1B1-CDG MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3). phenio_relaxed_subqs.owl OBO:GARD_0012417 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733450008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:397941 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4518821 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202168 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_733518000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261204 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4520983 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:210500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4521678 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617717 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:542585 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4522164 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617671 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:528105 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4531264 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015391 biolink:NamedThing nasopharyngeal teratoma A teratoma that involves the nasopharynx. phenio_relaxed_subqs.owl ORPHA:141107 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4539857 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617602 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4539873 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617604 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:572773 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4539927 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617616 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:513456 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4539968 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617641 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4539985 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617643 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4540004 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0060554 biolink:NamedThing vertebral, cardiac, renal, and limb defects syndrome 1 phenio_relaxed_subqs.owl OMIM:617660 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4540020 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617662 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:527450 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4540029 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0054654 biolink:NamedThing combined oxidative phosphorylation deficiency 32 phenio_relaxed_subqs.owl DOID:0111492 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617664 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4540036 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111407 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617666 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4540040 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111406 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617667 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4540052 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617668 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4540127 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080346 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617681 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4540131 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617682 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:529965 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4540141 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080497 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617690 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4540188 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0060577 biolink:NamedThing neurodevelopmental disorder with microcephaly, ataxia, and seizures phenio_relaxed_subqs.owl OMIM:617709 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4540192 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0060578 biolink:NamedThing neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures phenio_relaxed_subqs.owl OMIM:617710 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:572798 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4540209 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0054677 biolink:NamedThing combined oxidative phosphorylation deficiency 33 phenio_relaxed_subqs.owl DOID:0111495 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617713 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0009159 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4540232 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617718 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4540265 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0060585 biolink:NamedThing neuronopathy, distal hereditary motor, type 9 phenio_relaxed_subqs.owl DOID:0111212 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617721 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4540277 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617732 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4540293 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617744 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4540299 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080538 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617746 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4540327 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0060596 biolink:NamedThing neurodevelopmental disorder with dysmorphic facies and distal limb anomalies phenio_relaxed_subqs.owl OMIM:617755 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:528084 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4540380 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617765 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4540434 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617780 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4540488 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070281 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4540493 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0060621 biolink:NamedThing neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy phenio_relaxed_subqs.owl OMIM:617802 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4540496 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0060622 biolink:NamedThing neurodevelopmental disorder with severe motor impairment and absent language phenio_relaxed_subqs.owl OMIM:617804 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4540498 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0060624 biolink:NamedThing neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter phenio_relaxed_subqs.owl OMIM:617807 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4540520 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:617810 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:529665 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4545229 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_737580004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:171684 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4551602 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060578 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007223 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C75459 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:163950 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C4755316 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007988 biolink:NamedThing autosomal dominant primary microcephaly Autosomal dominant form of microcephaly (disease). phenio_relaxed_subqs.owl DOID:14725 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003605 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537323 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0030928 biolink:NamedThing microcephaly 26, primary, autosomal dominant phenio_relaxed_subqs.owl MONDO:0030929 biolink:NamedThing microcephaly 27, primary, autosomal dominant phenio_relaxed_subqs.owl OMIM:156580 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2514 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:C5191670 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050890 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000080874 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN028786 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080579 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005665 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535308 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:210200 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN029274 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024530 biolink:NamedThing Bethlem myopathy 1 phenio_relaxed_subqs.owl OMIM:158810 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN029323 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110218 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601144 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN029449 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111460 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:115150 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN029798 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080505 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:122470 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_40354009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN030358 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009143 biolink:NamedThing Meier-Gorlin syndrome 1 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC1 gene. phenio_relaxed_subqs.owl DOID:0080512 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:224690 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_703508009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN030519 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:239300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN030594 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006509 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:135300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN030661 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:147920 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN031062 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:241550 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN031291 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000083 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C130993 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:127000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93325 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN031715 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060364 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:251300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN031748 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080141 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:257300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN032031 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:166800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN032230 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080076 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:256520 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN032247 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000302 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:610738 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99749 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN032731 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008653 biolink:NamedThing vesicoureteral reflux 1 phenio_relaxed_subqs.owl OMIM:193000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN032791 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008289 biolink:NamedThing brain small vessel disease 1 with or without ocular anomalies Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene. phenio_relaxed_subqs.owl DOID:0090125 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C531642 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564372 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:175780 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607595 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:36383 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN032818 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:135500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN032975 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535781 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020692 biolink:NamedThing spondylocostal dysostosis 1, autosomal recessive phenio_relaxed_subqs.owl OBO:SCTID_61367005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2311 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN033130 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110829 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004684 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:500004 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_57838006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN033863 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009681 biolink:NamedThing Ullrich congenital muscular dystrophy 1 phenio_relaxed_subqs.owl OMIM:254090 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN033933 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010318 biolink:NamedThing FG syndrome 4 Any FG syndrome in which the cause of the disease is a mutation in the CASK gene. phenio_relaxed_subqs.owl OBO:GARD_0009925 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300422 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN034131 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:220400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN034406 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C122798 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_236381000 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN034812 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:187300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN034858 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111415 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:222470 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN035075 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005692 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E34.52 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538435 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C120192 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:307300 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:312100 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:312300 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_122811000119101 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90797 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN035106 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:117550 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_75968004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN035550 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013208 biolink:NamedThing cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome phenio_relaxed_subqs.owl DOID:0080536 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010706 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C548016 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613280 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702377007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309854 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN035788 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015727 biolink:NamedThing mosaic trisomy 15 Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported. phenio_relaxed_subqs.owl OBO:GARD_0005313 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538037 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764619001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1706 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN035860 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005320 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018069 biolink:NamedThing distal trisomy 17q Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated. phenio_relaxed_subqs.owl ORPHA:262968 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN035866 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019868 biolink:NamedThing mosaic trisomy 10 Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia. phenio_relaxed_subqs.owl OBO:GARD_0005406 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538292 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764461004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:96063 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN035918 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020490 biolink:NamedThing mosaic trisomy 9 Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person. phenio_relaxed_subqs.owl OBO:GARD_0000043 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535454 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764989007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99776 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN035928 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008607 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN035970 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0043085 biolink:NamedThing chromosome 1, uniparental disomy 1q12 q21 phenio_relaxed_subqs.owl OBO:GARD_0001878 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538085 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN036006 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015771 biolink:NamedThing mosaic trisomy 7 Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported. phenio_relaxed_subqs.owl OBO:GARD_0005354 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537822 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764630003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1747 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN036220 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0022754 biolink:NamedThing chromosome 17p deletion A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17. phenio_relaxed_subqs.owl OBO:GARD_0006075 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538045 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008087 biolink:NamedThing hereditary neuropathy with liability to pressure palsies Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities. phenio_relaxed_subqs.owl MONDO:0016839 biolink:NamedThing distal 17p13.3 microdeletion syndrome Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly. phenio_relaxed_subqs.owl NCIT:C36499 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261965 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN036354 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0044767 biolink:NamedThing childhood adrenal gland pheochromocytoma A rare pheochromocytoma of the adrenal gland that occurs during childhood. phenio_relaxed_subqs.owl DOID:0070325 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009368 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C118822 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN036363 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016966 biolink:NamedThing partial trisomy of the long arm of chromosome 16 phenio_relaxed_subqs.owl OBO:GARD_0005316 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538042 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019887 biolink:NamedThing distal trisomy 16q Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported. phenio_relaxed_subqs.owl ORPHA:262959 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN036464 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010247 biolink:NamedThing X-linked cerebral adrenoleukodystrophy A peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency. phenio_relaxed_subqs.owl UMLS:CN199389 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009412 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:139396 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN036641 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016943 biolink:NamedThing partial duplication of the short arm of chromosome 6 Chromosome 6p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. This condition can occur sporadically or be inherited from aparent who is either mildy affected (has the deletion) or carries a balanced translocation. Treatment is based on the signs and symptoms present in each person. phenio_relaxed_subqs.owl OBO:GARD_0005352 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537811 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:262740 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN036719 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019994 biolink:NamedThing maternal uniparental disomy of chromosome 13 Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. phenio_relaxed_subqs.owl ORPHA:97678 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN036727 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0022755 biolink:NamedThing chromosome 18 mosaic monosomy phenio_relaxed_subqs.owl OBO:GARD_0003726 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536581 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN036765 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0022758 biolink:NamedThing chromosome 22, monosome mosaic phenio_relaxed_subqs.owl OBO:MESH_C536798 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN036786 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008620 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C8427 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_253030004 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1000621 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN036924 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001108 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN036934 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015726 biolink:NamedThing distal trisomy 14q phenio_relaxed_subqs.owl OBO:MESH_C538034 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1705 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN036949 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309288 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN037021 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0022746 biolink:NamedThing chromosome 13p duplication phenio_relaxed_subqs.owl OBO:MESH_C535450 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN037259 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0022178 biolink:NamedThing chromosome 13q-mosaicism phenio_relaxed_subqs.owl OBO:MESH_C535486 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN043575 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016146 biolink:NamedThing caveolinopathy A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals phenio_relaxed_subqs.owl MONDO:0016103 biolink:NamedThing isolated asymptomatic elevation of creatine phosphokinase Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle. phenio_relaxed_subqs.owl MONDO:0020704 biolink:NamedThing inherited rippling muscle disease Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase. phenio_relaxed_subqs.owl ORPHA:207078 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN043578 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018995 biolink:NamedThing Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. phenio_relaxed_subqs.owl DOID:0050541 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012440 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011527 biolink:NamedThing Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity. phenio_relaxed_subqs.owl OBO:SCTID_715795005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:64749 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN043579 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015526 biolink:NamedThing cold-induced sweating syndrome Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature. phenio_relaxed_subqs.owl DOID:0060294 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010091 biolink:NamedThing Cold-induced sweating syndrome 1 Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. phenio_relaxed_subqs.owl OBO:OMIMPS_272430 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702363009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:157820 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN043592 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019220 biolink:NamedThing inborn disorder of cobalamin metabolism and transport phenio_relaxed_subqs.owl UMLS:CN227587 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009852 biolink:NamedThing hereditary intrinsic factor deficiency Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities. phenio_relaxed_subqs.owl MONDO:0009853 biolink:NamedThing Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood. phenio_relaxed_subqs.owl ORPHA:79171 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN043595 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010542 biolink:NamedThing dilated cardiomyopathy 3B Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene. phenio_relaxed_subqs.owl ORPHA:207085 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN043596 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012798 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011561 biolink:NamedThing Alzheimer disease 6 An Alzheimer's disease that is characterized by an associated with variation in the region 10q24. phenio_relaxed_subqs.owl MONDO:0011913 biolink:NamedThing Alzheimer disease 3 Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene. phenio_relaxed_subqs.owl ORPHA:1020 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN072190 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0022756 biolink:NamedThing chromosome 1q deletion Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. phenio_relaxed_subqs.owl OBO:GARD_0008669 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012914 biolink:NamedThing chromosome 1q21.1 deletion syndrome 1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome. phenio_relaxed_subqs.owl ORPHA:262001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN072330 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:158350 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN072428 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001799 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011028 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2F Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal. phenio_relaxed_subqs.owl MONDO:0011702 biolink:NamedThing dilated cardiomyopathy 1L Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SGCD gene. phenio_relaxed_subqs.owl ORPHA:207070 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN073987 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015706 biolink:NamedThing mosaic trisomy 1 phenio_relaxed_subqs.owl ORPHA:1692 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN073989 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015718 biolink:NamedThing mosaic trisomy 12 Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported. phenio_relaxed_subqs.owl OBO:GARD_0005304 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764463001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1698 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN073991 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015763 biolink:NamedThing mosaic trisomy 2 Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported. phenio_relaxed_subqs.owl OBO:GARD_0005331 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764623009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1723 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN073992 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015060 biolink:NamedThing mosaic trisomy 3 Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities. phenio_relaxed_subqs.owl OBO:GARD_0005342 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764627005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100071 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN074193 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050526 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012353 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:137200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_711406009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:324442 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN074207 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206396 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009787 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:608355 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234143003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90307 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN074211 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010877 biolink:NamedThing Charcot-Marie-Tooth disease type 5 Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity. phenio_relaxed_subqs.owl DOID:0080067 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009208 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:600361 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_76043009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:64751 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN074214 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080626 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005660 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:203400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_47757001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN074232 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:242880 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN074234 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010277 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:314100 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN074243 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024542 biolink:NamedThing cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 Any dysequilibrium syndrome in which the cause of the disease is a mutation in the VLDLR gene. phenio_relaxed_subqs.owl OMIM:224050 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN074246 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007761 biolink:NamedThing hyperlipoproteinemia type IV A laboratory test result indicating an autosomal dominant condition in which there is increased very low density lipoprotein production, which leads to increased triglyceride concentration. phenio_relaxed_subqs.owl DOID:1172 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006418 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D006953 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:144600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238085009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:413 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN074249 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008050 biolink:NamedThing MYH7-related skeletal myopathy Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course. phenio_relaxed_subqs.owl DOID:0070197 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010769 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:160500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764859001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:59135 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN074265 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008409 biolink:NamedThing MYH7-related late-onset scapuloperoneal muscular dystrophy phenio_relaxed_subqs.owl OBO:GARD_0010313 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:181430 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_129620000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:437572 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN117960 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050576 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000322 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537580 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009962 biolink:NamedThing Senior-Loken syndrome 1 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene. phenio_relaxed_subqs.owl OBO:OMIMPS_266900 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3156 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN118820 biolink:NamedThing phenio_relaxed_subqs.owl DOID:11633 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D018382 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009043 biolink:NamedThing generalized resistance to thyroid hormone A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues. phenio_relaxed_subqs.owl MONDO:0020711 biolink:NamedThing selective peripheral resistance to thyroid hormone A thyroid hormone resistance syndrome characterized by resistance in peripheral tissues but not in the pituitary. phenio_relaxed_subqs.owl MONDO:0034216 biolink:NamedThing resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha phenio_relaxed_subqs.owl MONDO:0034217 biolink:NamedThing resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta phenio_relaxed_subqs.owl OBO:SCTID_111567006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN118835 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0011893 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009557 biolink:NamedThing mandibuloacral dysplasia with type A lipodystrophy A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk. phenio_relaxed_subqs.owl OBO:OMIMPS_248370 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2457 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN118841 biolink:NamedThing phenio_relaxed_subqs.owl DOID:13810 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007750 biolink:NamedThing hypercholesterolemia, familial, 1 phenio_relaxed_subqs.owl MONDO:0007751 biolink:NamedThing hypercholesterolemia, autosomal dominant, type B phenio_relaxed_subqs.owl MONDO:0016203 biolink:NamedThing hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency phenio_relaxed_subqs.owl MONDO:0018328 biolink:NamedThing homozygous familial hypercholesterolemia phenio_relaxed_subqs.owl NCIT:C34704 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_143890 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_190773008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0004911 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN118845 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017140 biolink:NamedThing L1 syndrome L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis. phenio_relaxed_subqs.owl OBO:GARD_0012524 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010611 biolink:NamedThing X-linked hydrocephalus with stenosis of the aqueduct of Sylvius A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis. phenio_relaxed_subqs.owl MONDO:0017630 biolink:NamedThing X-linked complicated spastic paraplegia type 1 An X-linked form of L1 syndrome characterized by spastic paraplegia, mild to moderate intellectual disability, normal MRI of the brain. phenio_relaxed_subqs.owl ORPHA:275543 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN119529 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004037 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018136 biolink:NamedThing minimal pigment oculocutaneous albinism type 1 Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi. phenio_relaxed_subqs.owl OBO:SCTID_765146000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:352731 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN119531 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008944 biolink:NamedThing Joubert syndrome 1 Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene. phenio_relaxed_subqs.owl DOID:0110980 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:213300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN119532 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110085 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:208500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN119605 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:154500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN119611 biolink:NamedThing phenio_relaxed_subqs.owl DOID:898 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010413 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_753.13 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D016891 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0054842 biolink:NamedThing polycystic kidney disease 6 with or without polycystic liver disease Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene. phenio_relaxed_subqs.owl MONDO:0700000 biolink:NamedThing ALG9-associated autosomal dominant polycystic kidney disease Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the ALG9 gene. phenio_relaxed_subqs.owl NCIT:C84578 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_765330003 biolink:NamedThing phenio_relaxed_subqs.owl EFO:1001496 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:730 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN158709 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060237 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005534 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010822 biolink:NamedThing Warburg micro syndrome 1 Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP1 gene. phenio_relaxed_subqs.owl OBO:OMIMPS_600118 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2510 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN159238 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614879 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN166718 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020297 biolink:NamedThing Noonan syndrome and Noonan-related syndrome phenio_relaxed_subqs.owl OBO:MESH_C537846 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98733 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN168921 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011101 biolink:NamedThing peroxisome biogenesis disorder 1B phenio_relaxed_subqs.owl OMIM:601539 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN169366 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050591 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007129 biolink:NamedThing tooth agenesis, selective, 1 Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene. phenio_relaxed_subqs.owl MONDO:0007881 biolink:NamedThing tooth agenesis, selective, 4 Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene. phenio_relaxed_subqs.owl MONDO:0014999 biolink:NamedThing tooth agenesis, selective, 9 Any tooth agenesis in which the cause of the disease is a mutation in the GREM2 gene. phenio_relaxed_subqs.owl OBO:OMIMPS_106600 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_64969001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005410 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2227 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99798 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN176898 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080315 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003445 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536141 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024555 biolink:NamedThing megalencephalic leukoencephalopathy with subcortical cysts 1 phenio_relaxed_subqs.owl OBO:SCTID_703536004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2478 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN180200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012472 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:369942 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN182502 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111062 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002876 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C566267 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615558 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_60193003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN187050 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008070 biolink:NamedThing nemaline myopathy 3 An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles. phenio_relaxed_subqs.owl DOID:0110927 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C580202 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C129870 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:161800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702349003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN197338 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110197 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012438 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606482 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_765745007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100044 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN197356 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C135080 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100076 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN197357 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C135090 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100077 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN197358 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C135092 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100078 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN197361 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C135213 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN197362 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C96540 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100082 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN197370 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015077 biolink:NamedThing adrenal/paraganglial tumor phenio_relaxed_subqs.owl MONDO:0035540 biolink:NamedThing pheochromocytoma-paraganglioma A rare neuroendocrine tumor arising from chromaffin cells of the adrenal medulla (pheochromocytoma) or from sympathetic and parasympathetic ganglia (paraganglioma). These tumors are most often benign and may produce catecholamines in excess causing hypertension and sometimes severe acute cardiovascular complications. phenio_relaxed_subqs.owl ORPHA:100091 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN197371 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002437 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535650 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0028618 biolink:NamedThing gastroenteric neuroendocrine neoplasm phenio_relaxed_subqs.owl NCIT:C27721 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100092 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN197373 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015079 biolink:NamedThing multiple polyglandular tumor phenio_relaxed_subqs.owl OBO:ICD10WHO_D44.8 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100094 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN197455 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015103 biolink:NamedThing pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion. phenio_relaxed_subqs.owl ORPHA:101206 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN197498 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:102237 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN197542 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015197 biolink:NamedThing aneurysm of sinus of Valsalva Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated. phenio_relaxed_subqs.owl OBO:GARD_0000670 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_54160000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1054 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN197570 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000717 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720495005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1101 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199177 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003242 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:119500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718222000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199179 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2799 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009551 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C62580 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_40100001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007183 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1303 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199278 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010303 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:137911 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199280 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015312 biolink:NamedThing choanal atresia, unilateral Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition. phenio_relaxed_subqs.owl ORPHA:137917 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199281 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015313 biolink:NamedThing choanal atresia, bilateral Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth. phenio_relaxed_subqs.owl ORPHA:137920 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199294 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016013 biolink:NamedThing fetal methylmercury syndrome Foetal methylmercury syndrome is characterised by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury. phenio_relaxed_subqs.owl MONDO:0016467 biolink:NamedThing isotretinoin syndrome Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy. phenio_relaxed_subqs.owl MONDO:0017453 biolink:NamedThing fetal parvovirus syndrome Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis. phenio_relaxed_subqs.owl MONDO:0044619 biolink:NamedThing propylthiouracil embryofetopathy Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects). phenio_relaxed_subqs.owl ORPHA:138059 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199363 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015333 biolink:NamedThing progeroid syndrome A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are. phenio_relaxed_subqs.owl MONDO:0016354 biolink:NamedThing xeroderma pigmentosum-Cockayne syndrome complex Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS). phenio_relaxed_subqs.owl ORPHA:139033 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199365 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007604 biolink:NamedThing femoral-facial syndrome Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies. phenio_relaxed_subqs.owl MONDO:0008490 biolink:NamedThing otospondylomegaepiphyseal dysplasia, autosomal dominant A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities. phenio_relaxed_subqs.owl MONDO:0008645 biolink:NamedThing ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. phenio_relaxed_subqs.owl MONDO:0009437 biolink:NamedThing Bamforth-Lazarus syndrome Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases. phenio_relaxed_subqs.owl MONDO:0009589 biolink:NamedThing mesomelic dwarfism-cleft palate-camptodactyly syndrome Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. phenio_relaxed_subqs.owl MONDO:0010560 biolink:NamedThing cleft palate with or without ankyloglossia, X-linked X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported. phenio_relaxed_subqs.owl MONDO:0011261 biolink:NamedThing spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. This is an n-of-1 use case where only one patient or family has been described with this disorder. phenio_relaxed_subqs.owl MONDO:0015782 biolink:NamedThing dysmorphism-cleft palate-loose skin syndrome Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congential, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss. phenio_relaxed_subqs.owl MONDO:0016059 biolink:NamedThing cleft lip/palate-deafness-sacral lipoma syndrome Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. phenio_relaxed_subqs.owl MONDO:0016065 biolink:NamedThing cleft palate-short stature-vertebral anomalies syndrome Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993. phenio_relaxed_subqs.owl MONDO:0016604 biolink:NamedThing dysraphism-cleft lip/palate-limb reduction defects syndrome phenio_relaxed_subqs.owl MONDO:0017981 biolink:NamedThing syngnathia-cleft palate syndrome phenio_relaxed_subqs.owl MONDO:0018050 biolink:NamedThing tibial aplasia-ectrodactyly syndrome Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. phenio_relaxed_subqs.owl MONDO:0018095 biolink:NamedThing Weaver-Williams syndrome Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977. phenio_relaxed_subqs.owl MONDO:0019178 biolink:NamedThing auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities. phenio_relaxed_subqs.owl ORPHA:139039 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199414 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015351 biolink:NamedThing neuropathy with hearing impairment This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy. phenio_relaxed_subqs.owl OBO:SCTID_723497003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:139512 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199425 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015355 biolink:NamedThing distal hereditary motor neuropathy type 7 Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness. phenio_relaxed_subqs.owl DOID:0111199 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:139589 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199493 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0006582 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_109393007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:141136 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199517 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001292 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563162 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:118600 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1416 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199560 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015453 biolink:NamedThing Cogan syndrome Cogan syndrome (CS) is a rare autoimmune disorder of unknown origin characterized by inflammatory ocular disease (mainly interstitial keratitis) and vestibulo-auditory manifestations (mainly acute onset hearing loss, tinnitus and vertigo), in the setting of a negative work-up for syphilis, with a variable risk of developing into a systemic disease. Systemic manifestations may occur in more than 70% of cases. phenio_relaxed_subqs.owl DOID:0060216 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001421 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D055952 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_405810005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1467 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199578 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015458 biolink:NamedThing intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterised by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive. phenio_relaxed_subqs.owl OBO:GARD_0012487 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722455002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1495 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199601 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001564 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720753002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1525 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199659 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:157716 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199660 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:157719 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199665 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C165469 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763536006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:157798 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199702 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:158057 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199732 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015553 biolink:NamedThing dystrophic epidermolysis bullosa, nails only Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB) that shows no blistering and that is characterized by dystrophic or absent nails. phenio_relaxed_subqs.owl OBO:SCTID_722436002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:158676 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199965 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226196 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080474 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012819 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C119057 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614204 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_83839005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:163931 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:247353 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:404546 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN199983 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015611 biolink:NamedThing neutral lipid storage disease Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished. phenio_relaxed_subqs.owl DOID:0050729 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003262 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012545 biolink:NamedThing neutral lipid storage myopathy phenio_relaxed_subqs.owl MONDO:0035423 biolink:NamedThing triglyceride deposit cardiomyovasculopathy phenio_relaxed_subqs.owl ORPHA:165 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200166 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090139 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009882 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536447 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_604931 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_124138004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:168588 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200226 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:169618 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200231 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:169805 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200295 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015745 biolink:NamedThing microcephaly-polymicrogyria-corpus callosum agenesis syndrome Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality. phenio_relaxed_subqs.owl ORPHA:171703 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200301 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015749 biolink:NamedThing 6q16 deletion syndrome Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay. phenio_relaxed_subqs.owl ORPHA:171829 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200302 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008771 biolink:NamedThing amelogenesis imperfecta type 1G An extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure. phenio_relaxed_subqs.owl DOID:0110066 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000646 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009860 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538241 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:204690 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:614253 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_109477002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1031 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:171836 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200364 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1779 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200365 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015783 biolink:NamedThing Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 phenio_relaxed_subqs.owl ORPHA:177901 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200366 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015784 biolink:NamedThing Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 phenio_relaxed_subqs.owl ORPHA:177904 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200367 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:177907 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200368 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:177910 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200369 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:177926 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200532 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015941 biolink:NamedThing epiphyseal dysplasia-hearing loss-dysmorphism syndrome Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992. phenio_relaxed_subqs.owl OBO:GARD_0002178 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_766870005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1825 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200550 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015953 biolink:NamedThing genetic central nervous system and retinal vascular disease phenio_relaxed_subqs.owl MONDO:0000700 biolink:NamedThing familial hemiplegic migraine A migraine disorder characterized by individual and family history of aura that includes motor weakness. phenio_relaxed_subqs.owl MONDO:0007116 biolink:NamedThing hereditary neurocutaneous angioma Hereditary neurocutaneous angioma is characterised by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral haemorrhage, and focal neurological deficit. Transmission is autosomal dominant. phenio_relaxed_subqs.owl MONDO:0008436 biolink:NamedThing Sneddon syndrome Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa. phenio_relaxed_subqs.owl MONDO:0009837 biolink:NamedThing choroid plexus papilloma Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor, accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure. phenio_relaxed_subqs.owl MONDO:0015374 biolink:NamedThing primary central nervous system vasculitis phenio_relaxed_subqs.owl MONDO:0016483 biolink:NamedThing intracranial berry aneurysm An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. phenio_relaxed_subqs.owl MONDO:0018212 biolink:NamedThing familial cervical artery dissection An instance of cervical artery dissection that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0018787 biolink:NamedThing genetic cerebral small vessel disease phenio_relaxed_subqs.owl ORPHA:183503 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200572 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:183663 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200573 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:183666 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200646 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016000 biolink:NamedThing familial isolated hypoparathyroidism due to impaired PTH secretion phenio_relaxed_subqs.owl ORPHA:189466 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200649 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002084 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562625 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020521 biolink:NamedThing Ehlers-Danlos syndrome type 7A phenio_relaxed_subqs.owl NCIT:C125701 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:130060 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_4170004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:1899 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200724 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016045 biolink:NamedThing tetragametic chimerism Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins. phenio_relaxed_subqs.owl ORPHA:199310 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200728 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016048 biolink:NamedThing isolated autosomal dominant hypomagnesemia, Glaudemans type Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal. phenio_relaxed_subqs.owl OBO:SCTID_722008003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:199326 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200748 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716007007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2003 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200784 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001392 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_719466009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2015 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200855 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_41142009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:206443 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200856 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:206448 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200864 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016097 biolink:NamedThing symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation. phenio_relaxed_subqs.owl OBO:SCTID_765197008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:206546 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN200901 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016139 biolink:NamedThing qualitative or quantitative protein defects in neuromuscular diseases phenio_relaxed_subqs.owl MONDO:0016152 biolink:NamedThing qualitative or quantitative defects of calpain phenio_relaxed_subqs.owl MONDO:0016186 biolink:NamedThing qualitative or quantitative defects of myofibrillar proteins phenio_relaxed_subqs.owl MONDO:0016193 biolink:NamedThing qualitative or quantitative defects of alpha-actin phenio_relaxed_subqs.owl MONDO:0016194 biolink:NamedThing qualitative or quantitative defects of nebulin phenio_relaxed_subqs.owl MONDO:0016195 biolink:NamedThing qualitative or quantitative defects of beta-myosin heavy chain (MYH7) phenio_relaxed_subqs.owl MONDO:0016197 biolink:NamedThing qualitative or quantitative defects of selenoprotein N1 phenio_relaxed_subqs.owl MONDO:0016198 biolink:NamedThing qualitative or quantitative defects of plectin phenio_relaxed_subqs.owl MONDO:0016199 biolink:NamedThing qualitative or quantitative defects of protein SERCA1 phenio_relaxed_subqs.owl MONDO:0016200 biolink:NamedThing qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - phenio_relaxed_subqs.owl MONDO:0016201 biolink:NamedThing qualitative or quantitative defects of myotilin phenio_relaxed_subqs.owl MONDO:0017302 biolink:NamedThing qualitative or quantitative defects of troponin phenio_relaxed_subqs.owl MONDO:0017303 biolink:NamedThing qualitative or quantitative defects of tropomyosin phenio_relaxed_subqs.owl MONDO:0018282 biolink:NamedThing qualitative or quantitative defects of alpha-dystroglycan phenio_relaxed_subqs.owl MONDO:0018529 biolink:NamedThing qualitative or quantitative defects of Torsin-1A-interacting protein 1 phenio_relaxed_subqs.owl MONDO:0100084 biolink:NamedThing alpha-actinopathy A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle α-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance. phenio_relaxed_subqs.owl MONDO:0100225 biolink:NamedThing collagen 6-related myopathy A qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other. phenio_relaxed_subqs.owl ORPHA:207049 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201058 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:213731 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201059 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:213736 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201109 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:216866 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201110 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:216873 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201112 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016306 biolink:NamedThing Niemann-Pick disease type C, severe perinatal form phenio_relaxed_subqs.owl ORPHA:216972 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201113 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016307 biolink:NamedThing Niemann-Pick disease type C, severe early infantile neurologic onset phenio_relaxed_subqs.owl ORPHA:216975 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201114 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016308 biolink:NamedThing Niemann-Pick disease type C, late infantile neurologic onset phenio_relaxed_subqs.owl ORPHA:216978 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201115 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016309 biolink:NamedThing Niemann-Pick disease type C, juvenile neurologic onset phenio_relaxed_subqs.owl ORPHA:216981 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201116 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016310 biolink:NamedThing Niemann-Pick disease type C, adult neurologic onset phenio_relaxed_subqs.owl ORPHA:216986 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201119 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016311 biolink:NamedThing Bockenheimer syndrome phenio_relaxed_subqs.owl OBO:GARD_0013063 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:217008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201128 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C531667 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:217064 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201131 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_73146005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:217085 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201132 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:217093 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201182 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016346 biolink:NamedThing hydrocephalus-obesity-hypogonadism syndrome This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature. phenio_relaxed_subqs.owl OBO:GARD_0002775 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721231007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2183 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201205 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:220295 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201220 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016365 biolink:NamedThing familial primary hyperparathyroidism An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl OBO:GARD_0002837 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020524 biolink:NamedThing primary parathyroid hyperplasia phenio_relaxed_subqs.owl ORPHA:2207 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201233 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:618625 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:221008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201234 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:268400 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:221016 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201280 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721842008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2230 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201288 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016387 biolink:NamedThing mitochondrial oxidative phosphorylation disorder phenio_relaxed_subqs.owl MONDO:0000732 biolink:NamedThing combined oxidative phosphorylation deficiency A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes. phenio_relaxed_subqs.owl MONDO:0010779 biolink:NamedThing mitochondrial non-syndromic sensorineural hearing loss phenio_relaxed_subqs.owl MONDO:0015632 biolink:NamedThing FASTKD2-related infantile mitochondrial encephalomyopathy phenio_relaxed_subqs.owl MONDO:0016794 biolink:NamedThing maternally-inherited mitochondrial myopathy phenio_relaxed_subqs.owl MONDO:0016797 biolink:NamedThing multiple mitochondrial DNA deletion syndrome phenio_relaxed_subqs.owl MONDO:0016805 biolink:NamedThing isolated oxidative phosphorylation complex disorder phenio_relaxed_subqs.owl MONDO:0017933 biolink:NamedThing hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure. phenio_relaxed_subqs.owl MONDO:0018158 biolink:NamedThing mitochondrial DNA depletion syndrome The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome. phenio_relaxed_subqs.owl MONDO:0018706 biolink:NamedThing syndromic sensorineural deafness due to combined oxidative phosphorylation defect phenio_relaxed_subqs.owl MONDO:0054865 biolink:NamedThing encephalopathy due to mitochondrial and peroxisomal fission defect phenio_relaxed_subqs.owl ORPHA:223713 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201292 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010618 biolink:NamedThing familial isolated hypoparathyroidism due to agenesis of parathyroid gland Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis). phenio_relaxed_subqs.owl OBO:MESH_C563238 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C131079 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:307700 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2239 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201299 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2250 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201303 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010665 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:271930 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:225154 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201345 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016411 biolink:NamedThing hypothyroidism due to deficient transcription factors involved in pituitary development or function Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. phenio_relaxed_subqs.owl ORPHA:226307 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201349 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090007 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002945 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537362 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009454 biolink:NamedThing immunodeficiency-centromeric instability-facial anomalies syndrome 1 Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the DNMT3B gene. phenio_relaxed_subqs.owl OBO:OMIMPS_242860 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_234633000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2268 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201371 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:227510 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201382 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016425 biolink:NamedThing Hughes-Stovin syndrome Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of BehC'et's disease (BD). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis. phenio_relaxed_subqs.owl OBO:SCTID_721226005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:228116 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201392 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2282 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201433 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002419 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:147251 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_707796002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2287 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201458 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720862007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:230845 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201460 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565178 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0030854 biolink:NamedThing combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 phenio_relaxed_subqs.owl MONDO:0030855 biolink:NamedThing combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 phenio_relaxed_subqs.owl OBO:OMIMPS_619115 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:230857 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201470 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:231117 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201471 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:231120 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201472 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:231127 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201473 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:231130 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201474 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:231137 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201475 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:231140 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201476 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:231144 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201477 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:231147 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201495 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016494 biolink:NamedThing regional variant of Guillain-Barre syndrome phenio_relaxed_subqs.owl MONDO:0016495 biolink:NamedThing functional variant of Guillain-Barre syndrome phenio_relaxed_subqs.owl ORPHA:231413 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201496 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016496 biolink:NamedThing pharyngeal-cervical-brachial variant of Guillain-Barre syndrome phenio_relaxed_subqs.owl MONDO:0018818 biolink:NamedThing facial diplegia with paresthesias phenio_relaxed_subqs.owl ORPHA:231416 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201497 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016497 biolink:NamedThing paraparetic variant of Guillain-Barre syndrome Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal. phenio_relaxed_subqs.owl MONDO:0016498 biolink:NamedThing acute pure sensory neuropathy phenio_relaxed_subqs.owl MONDO:0016500 biolink:NamedThing acute sensory ataxic neuropathy Acute sensory ataxic neuropathy is a rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain. phenio_relaxed_subqs.owl ORPHA:231419 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201499 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:231426 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201500 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:231445 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201501 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:231450 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201503 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_766049000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:231466 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201506 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016501 biolink:NamedThing Hermansky-Pudlak syndrome with pulmonary fibrosis Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis. phenio_relaxed_subqs.owl ORPHA:231500 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201507 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016502 biolink:NamedThing Hermansky-Pudlak syndrome without pulmonary fibrosis Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis. phenio_relaxed_subqs.owl ORPHA:231512 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201515 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016506 biolink:NamedThing ectopic aldosterone-producing tumor Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement. phenio_relaxed_subqs.owl ORPHA:231632 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201538 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2326 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201610 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:238269 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201619 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060704 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008232 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016536 biolink:NamedThing autosomal recessive lymphoproliferative disease A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic EBV-viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia. phenio_relaxed_subqs.owl NCIT:C9308 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_308240 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_277466009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:238510 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201620 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016539 biolink:NamedThing atypical hypotonia-cystinuria syndrome A form of hypotonia-cystinuria syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism). phenio_relaxed_subqs.owl ORPHA:238523 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201623 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013016 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:238569 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201627 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003232 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2386 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201629 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:238613 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201642 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010942 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:238763 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201679 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601104 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:240071 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201680 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004507 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537240 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:260540 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:240085 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201681 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016563 biolink:NamedThing progressive supranuclear palsy-corticobasal syndrome PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. phenio_relaxed_subqs.owl ORPHA:240103 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201700 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002013 biolink:NamedThing lymphangioma A benign lesion composed of dilated lymphatic channels. Painless swelling is the usual clinical manifestation. phenio_relaxed_subqs.owl DOID:1475 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009789 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_228.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008202 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002262 biolink:NamedThing capillary lymphangioma A lymphangioma that involves the capillary. phenio_relaxed_subqs.owl MONDO:0006841 biolink:NamedThing lymphangioendothelioma A lymphangioma characterized by the presence of collagen bundle formation. It has an indolent clinical course and may be associated with skin plaques. phenio_relaxed_subqs.owl MONDO:0018720 biolink:NamedThing common cystic lymphatic malformation phenio_relaxed_subqs.owl MONDO:0018735 biolink:NamedThing multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome Human MALT1 wild-type allele is located in the vicinity of 18q21 and is approximately 79 kb in length. This allele, which encodes mucosa associated lymphoid tissue lymphoma translocation gene 1 protein, plays a role in the modulation of the nuclear factor kappa B complex signaling cascade. The gene is involved in a chromosomal translocation t(11;18)(q21;q21) with the BIRC2 gene in mucosa-associated lymphoid tissue lymphomas. phenio_relaxed_subqs.owl NCIT:C8965 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254836000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_400178008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2415 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201782 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D000170 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_66695004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:247165 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201793 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016600 biolink:NamedThing acute neonatal citrullinemia type I Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits. phenio_relaxed_subqs.owl ORPHA:247546 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201794 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016601 biolink:NamedThing adult-onset citrullinemia type I Adult-onset citrullinemia type I is a form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur. phenio_relaxed_subqs.owl ORPHA:247573 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201798 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003438 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2476 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201818 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:247806 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201823 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:247839 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201824 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:247846 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201872 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:250932 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201875 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013590 biolink:NamedThing Stickler syndrome, type 4 Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A1 gene. phenio_relaxed_subqs.owl ORPHA:250984 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201889 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016659 biolink:NamedThing 8p23.1 duplication syndrome 8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly). phenio_relaxed_subqs.owl OBO:GARD_0010304 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_765140006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:251076 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201903 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:251312 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201905 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:251332 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN201914 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016673 biolink:NamedThing localized junctional epidermolysis bullosa, non-Herlitz type Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH) characterized by localized blistering, and dystrophic or absent nails. phenio_relaxed_subqs.owl OBO:GARD_0012923 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:251393 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202009 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003607 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2523 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202036 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:254525 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202038 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:254531 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202052 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016796 biolink:NamedThing mitochondrial DNA depletion syndrome, encephalomyopathic form Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features. phenio_relaxed_subqs.owl UMLS:CN230130 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009504 biolink:NamedThing mitochondrial DNA depletion syndrome 9 Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated. phenio_relaxed_subqs.owl MONDO:0012792 biolink:NamedThing mitochondrial DNA depletion syndrome 8a Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene. phenio_relaxed_subqs.owl ORPHA:254803 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202053 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:254807 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202062 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563575 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:254892 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202065 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016811 biolink:NamedThing renal tubulopathy-encephalopathy-liver failure syndrome Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in Gracile syndrome and that can be associated with encephalopathy and psychiatric disorders. phenio_relaxed_subqs.owl ORPHA:254902 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202083 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:255241 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202084 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:255249 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202088 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2558 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202160 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261102 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202166 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012756 biolink:NamedThing proximal 16p11.2 microdeletion syndrome A chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. phenio_relaxed_subqs.owl OBO:GARD_0010740 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C579850 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C120408 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:611913 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_699307007 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718227006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261197 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202171 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016835 biolink:NamedThing 14q11.2 microduplication syndrome 14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate. phenio_relaxed_subqs.owl ORPHA:261229 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202175 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764696007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261257 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202187 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764524005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261337 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202195 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204109 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050553 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003916 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003917 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010811 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010988 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C538334 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0030924 biolink:NamedThing proteasome-associated autoinflammatory syndrome 5 phenio_relaxed_subqs.owl MONDO:0030931 biolink:NamedThing proteasome-associated autoinflammatory syndrome 4 phenio_relaxed_subqs.owl MONDO:0054698 biolink:NamedThing proteasome-associated autoinflammatory syndrome 1 phenio_relaxed_subqs.owl MONDO:0054699 biolink:NamedThing proteasome-associated autoinflammatory syndrome 3 phenio_relaxed_subqs.owl MONDO:0054700 biolink:NamedThing proteasome-associated autoinflammatory syndrome 2 phenio_relaxed_subqs.owl OBO:OMIMPS_256040 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702449004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2615 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:324977 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:324999 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:325004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202197 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016854 biolink:NamedThing 49,XXXYY syndrome 49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person. phenio_relaxed_subqs.owl OBO:GARD_0010922 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261534 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202198 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261537 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202199 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261552 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202200 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261559 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202201 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261572 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202202 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261579 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202203 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261584 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202205 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:261600 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202208 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016863 biolink:NamedThing Okihiro syndrome due to 20q13 microdeletion phenio_relaxed_subqs.owl ORPHA:261638 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202209 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016864 biolink:NamedThing Okihiro syndrome due to a point mutation phenio_relaxed_subqs.owl ORPHA:261647 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202284 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016981 biolink:NamedThing infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome phenio_relaxed_subqs.owl ORPHA:263410 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202307 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:263558 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202308 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016994 biolink:NamedThing microcephalic osteodysplastic primordial dwarfism types I and III Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome. phenio_relaxed_subqs.owl OBO:GARD_0005120 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008871 biolink:NamedThing microcephalic osteodysplastic primordial dwarfism type I A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits. phenio_relaxed_subqs.owl OBO:SCTID_725461009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2636 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202391 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017045 biolink:NamedThing neuroectodermal-endocrine syndrome Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar. phenio_relaxed_subqs.owl OBO:GARD_0003959 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724090001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2676 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202416 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012452 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:268337 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202458 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017100 biolink:NamedThing neutropenia-monocytopenia-deafness syndrome Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections. phenio_relaxed_subqs.owl ORPHA:2690 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202534 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004051 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2722 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202554 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017138 biolink:NamedThing Opitz G/BBB syndrome Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS). phenio_relaxed_subqs.owl DOID:0050780 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000193 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C125487 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_300000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_81771002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2745 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202600 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:276212 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202601 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:276223 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202615 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_240.0 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562732 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:138800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_267369002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:276399 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202619 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017180 biolink:NamedThing 10q22.3q23.3 microduplication syndrome phenio_relaxed_subqs.owl ORPHA:276422 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202630 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007385 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017191 biolink:NamedThing sporadic pheochromocytoma phenio_relaxed_subqs.owl MONDO:0017192 biolink:NamedThing sporadic secreting paraganglioma phenio_relaxed_subqs.owl MONDO:0017926 biolink:NamedThing multiple paragangliomas associated with polycythemia phenio_relaxed_subqs.owl ORPHA:276621 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202631 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:276624 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202632 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:276627 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202699 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:280195 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202701 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017219 biolink:NamedThing microform holoprosencephaly Microform holoprosencephaly is a benign form of holoprosencephaly (HPE) characterized by midline defects without the typical HPE defect in brain cleavage. phenio_relaxed_subqs.owl UMLS:CN236719 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111380 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:280200 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202702 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017220 biolink:NamedThing laryngotracheoesophageal cleft type 0 Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course. phenio_relaxed_subqs.owl ORPHA:280205 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202703 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:280210 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202706 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:280229 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202707 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:280234 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202713 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:280315 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202714 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:280325 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202719 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:280365 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202725 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007403 biolink:NamedThing inherited Creutzfeldt-Jakob disease Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia. phenio_relaxed_subqs.owl ORPHA:280400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202738 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017237 biolink:NamedThing hereditary sensorimotor neuropathy with hyperelastic skin phenio_relaxed_subqs.owl OBO:GARD_0011010 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:280598 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202748 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017240 biolink:NamedThing acrodysostosis with multiple hormone resistance phenio_relaxed_subqs.owl ORPHA:280651 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202757 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017241 biolink:NamedThing AP4-related intellectual disability and spastic paraplegia A disorder that presents with spastic paraplegia and intellectual disability in which the cause of the disease is a mutation in the AP4B1 gene. phenio_relaxed_subqs.owl ORPHA:280763 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202762 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007876 biolink:NamedThing laryngeal abductor paralysis phenio_relaxed_subqs.owl OBO:GARD_0005509 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:150260 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_232442001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2808 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202791 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017270 biolink:NamedThing autosomal ichthyosis syndrome phenio_relaxed_subqs.owl MONDO:0007811 biolink:NamedThing ichthyosis-cheek-eyebrow syndrome Ichthyosis-cheek-eyebrow syndrome is characterised by ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant. phenio_relaxed_subqs.owl MONDO:0012387 biolink:NamedThing osteosclerosis-ichthyosis-premature ovarian failure syndrome This syndrome is characterised by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals. phenio_relaxed_subqs.owl MONDO:0012556 biolink:NamedThing DK1-CDG DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity. phenio_relaxed_subqs.owl MONDO:0016417 biolink:NamedThing congenital ichthyosis-microcephalus-tetraplegia syndrome phenio_relaxed_subqs.owl MONDO:0017123 biolink:NamedThing arthrogryposis-renal dysfunction-cholestasis syndrome Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. phenio_relaxed_subqs.owl ORPHA:281217 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202816 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016079 biolink:NamedThing sporadic Creutzfeldt-Jakob disease Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD, and iatrogenic and variant CJD (vCJD). phenio_relaxed_subqs.owl OMIM:123400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715807002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:282166 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202846 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017284 biolink:NamedThing Xp22.13p22.2 duplication syndrome phenio_relaxed_subqs.owl ORPHA:284180 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202881 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018083 biolink:NamedThing transient tyrosinemia of the newborn Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age. phenio_relaxed_subqs.owl OBO:SCTID_37200009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:284818 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202885 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN536247 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763839005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:284979 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202954 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:289098 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202957 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050949 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_90505000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:289176 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202966 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017326 biolink:NamedThing infective dermatitis associated with HTLV-1 A rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis. phenio_relaxed_subqs.owl NCIT:C129260 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:289347 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN202977 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017332 biolink:NamedThing pyoderma gangrenosum-acne-suppurative hidradenitis syndrome phenio_relaxed_subqs.owl EFO:0009009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:289478 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203012 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_5181007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:289829 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203020 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017357 biolink:NamedThing transient hyperammonemia of the newborn phenio_relaxed_subqs.owl ORPHA:289877 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203025 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237945003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:289916 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203119 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017388 biolink:NamedThing celiac trunk compression syndrome A rare disease caused by compression of the celiac axis by an abnormally shaped arcuate ligament (the part of the diaphragm in which both pillars join in the midline around the aorta). Patients have recurrent abdominal pain, anorexia and weight loss. The pain is epigastric, and diarrhea or constipation may be present as well. Onset of pain will usually, although not always, be after food intake, and may be associated with nausea and emesis. Other symptoms may include lassitude, exercise intolerance and vomiting. Occasionally, a patient may show an abdominal murmur upon auscultation. phenio_relaxed_subqs.owl ORPHA:293208 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203142 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017399 biolink:NamedThing frontotemporal dementia, right temporal atrophy variant Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy. phenio_relaxed_subqs.owl OBO:SCTID_716667005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:293848 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203151 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:293939 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203155 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:240900 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:293964 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203156 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:293967 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203163 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017413 biolink:NamedThing Reunion island Larsen syndrome phenio_relaxed_subqs.owl EFO:0002319 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:294049 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203260 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:295159 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203261 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:295161 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203275 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:295189 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203276 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:295191 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203277 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:295193 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203326 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2973 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203342 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007111 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020746 biolink:NamedThing contractures, pterygia, and variable skeletal fusions syndrome 1B phenio_relaxed_subqs.owl NCIT:C101039 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:265000 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_80773006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2990 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203376 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017580 biolink:NamedThing 11p15.4 microduplication syndrome 11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities. phenio_relaxed_subqs.owl ORPHA:300305 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203384 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018665 biolink:NamedThing X-linked acrogigantism due to a point mutation phenio_relaxed_subqs.owl ORPHA:300373 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203387 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3004 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203401 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:300564 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203427 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060330 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005690 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535289 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:129400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_7731005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3022 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203511 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017624 biolink:NamedThing familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN). phenio_relaxed_subqs.owl OBO:GARD_0009891 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009548 biolink:NamedThing renal hypomagnesemia 5 with ocular involvement Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities. phenio_relaxed_subqs.owl ORPHA:306516 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203524 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012525 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:306617 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203536 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_766872002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:306692 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203574 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:308380 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203582 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017685 biolink:NamedThing vitamin B12-responsive methylmalonic acidemia, type cblDv2 phenio_relaxed_subqs.owl ORPHA:308442 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203583 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:308451 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203594 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:308621 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203595 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:308638 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203601 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:308712 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203617 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309155 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203618 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309162 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203619 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309169 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203620 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309178 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203621 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309185 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203640 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010871 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309331 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203642 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309337 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203673 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0024455 biolink:NamedThing autosomal dominant Robinow syndrome 1 Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene. phenio_relaxed_subqs.owl OBO:SCTID_76520005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3107 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203731 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:313884 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203736 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_766816008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:313947 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203742 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764703002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314034 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203749 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017794 biolink:NamedThing Xq12-q13.3 duplication syndrome Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients. phenio_relaxed_subqs.owl OBO:SCTID_764711007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314389 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203753 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011397 biolink:NamedThing autosomal dominant cerebellar ataxia, deafness and narcolepsy Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia. phenio_relaxed_subqs.owl DOID:0050968 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012372 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:604121 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314404 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203759 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017800 biolink:NamedThing pseudo-Meigs syndrome phenio_relaxed_subqs.owl ORPHA:314459 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203760 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017801 biolink:NamedThing atypical Meigs syndrome phenio_relaxed_subqs.owl ORPHA:314466 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203762 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_765190005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314478 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203767 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017804 biolink:NamedThing autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is a rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures. phenio_relaxed_subqs.owl ORPHA:314572 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203769 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015728 biolink:NamedThing distal trisomy 15q phenio_relaxed_subqs.owl ORPHA:314585 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203774 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314621 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203776 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017809 biolink:NamedThing parkinsonism due to ATP13A2 deficiency phenio_relaxed_subqs.owl ORPHA:314632 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203789 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314721 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203793 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314769 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203795 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017825 biolink:NamedThing silent pituitary adenoma phenio_relaxed_subqs.owl ORPHA:314786 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203796 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017826 biolink:NamedThing null pituitary adenoma phenio_relaxed_subqs.owl ORPHA:314790 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203803 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314911 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203808 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314950 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203809 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017835 biolink:NamedThing lymphocytic hypereosinophilic syndrome phenio_relaxed_subqs.owl ORPHA:314962 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203810 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:314970 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203814 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3151 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203894 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_24354007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:31824 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203895 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:31825 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203897 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_12876009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:31828 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203914 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:319171 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203920 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:319205 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203941 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018445 biolink:NamedThing global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome phenio_relaxed_subqs.owl MONDO:0018492 biolink:NamedThing hereditary clear cell renal cell carcinoma A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common. phenio_relaxed_subqs.owl ORPHA:319328 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203956 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:319547 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203961 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:319574 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203988 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013239 biolink:NamedThing hereditary spastic paraplegia 41 Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise. phenio_relaxed_subqs.owl DOID:0110793 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613364 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763069002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:320355 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN203996 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0013165 biolink:NamedThing hereditary spastic paraplegia 45 Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported. phenio_relaxed_subqs.owl DOID:0110797 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:613162 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_765753004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:320396 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204014 biolink:NamedThing phenio_relaxed_subqs.owl DOID:206 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007035 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D005097 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007585 biolink:NamedThing exostoses, multiple, type 1 Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene. phenio_relaxed_subqs.owl NCIT:C5183 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254044004 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716742001 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0005560 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:321 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204041 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009079 biolink:NamedThing DOORS syndrome DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome. phenio_relaxed_subqs.owl ORPHA:3231 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204053 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008005 biolink:NamedThing cardiospondylocarpofacial syndrome Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance. phenio_relaxed_subqs.owl OBO:GARD_0002362 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C563572 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:157800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720612000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3238 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204064 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:324299 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204067 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017928 biolink:NamedThing 9p13 microdeletion syndrome 9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia). phenio_relaxed_subqs.owl OBO:SCTID_764725008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:324313 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204073 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:324525 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204081 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017937 biolink:NamedThing autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain phenio_relaxed_subqs.owl ORPHA:324585 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204085 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:324604 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204086 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017940 biolink:NamedThing autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms. phenio_relaxed_subqs.owl OBO:SCTID_764730007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:324611 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204099 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D056660 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007727 biolink:NamedThing autosomal dominant familial periodic fever Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis. phenio_relaxed_subqs.owl ORPHA:324924 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204100 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:324927 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204101 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016661 biolink:NamedThing infantile onset panniculitis with uveitis and systemic granulomatosis phenio_relaxed_subqs.owl ORPHA:324930 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204105 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0013371 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:324972 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204137 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005091 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3263 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204200 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017994 biolink:NamedThing severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency phenio_relaxed_subqs.owl ORPHA:329249 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204208 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:329319 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204217 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018005 biolink:NamedThing spastic paraplegia-Paget disease of bone syndrome Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported. phenio_relaxed_subqs.owl ORPHA:329475 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204228 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723552005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:329942 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204230 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050787 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:329971 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204231 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018016 biolink:NamedThing classic neuroendocrine tumor of appendix Classic endocrine tumor of the appendix is a type of endocrine tumor of the appendix, seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. Classic endocrine tumor of the appendix is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated. phenio_relaxed_subqs.owl ORPHA:329977 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204280 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080545 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010956 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0030069 biolink:NamedThing hyper-IgE recurrent infection syndrome 5, autosomal recessive phenio_relaxed_subqs.owl MONDO:0030681 biolink:NamedThing immunodeficiency 94 with autoinflammation and dysmorphic facies phenio_relaxed_subqs.owl MONDO:0032654 biolink:NamedThing hyper-IgE recurrent infection syndrome 3, autosomal recessive phenio_relaxed_subqs.owl MONDO:0032796 biolink:NamedThing hyper-IgE recurrent infection syndrome 4, autosomal recessive phenio_relaxed_subqs.owl NCIT:C3144 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_147060 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:331223 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204341 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018052 biolink:NamedThing hypoplastic tibiae-postaxial polydactyly syndrome Hypoplastic tibia-polydactyly syndrome is a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands. phenio_relaxed_subqs.owl OBO:SCTID_716741008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3332 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204402 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0005388 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3402 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204429 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008672 biolink:NamedThing Watson syndrome Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQTest scores for individuals with Watson syndromecan rangebetween 60-100.Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exactcause of this condition is unknown. The conditionis inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual. phenio_relaxed_subqs.owl OBO:GARD_0005540 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:193520 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_403820003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3444 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204431 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3448 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204453 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007894 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:277950 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_254151006 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204468 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018107 biolink:NamedThing idiopathic recurrent and disabling cutaneous herpes phenio_relaxed_subqs.owl ORPHA:35061 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204469 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:35062 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204491 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:352456 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204496 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018123 biolink:NamedThing intellectual disability-obesity-brain malformations-facial dysmorphism syndrome Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features. phenio_relaxed_subqs.owl ORPHA:352530 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204507 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763348005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:352641 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204521 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237919007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:352734 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204529 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562643 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0054765 biolink:NamedThing amyloidosis, primary localized cutaneous, 3 phenio_relaxed_subqs.owl OBO:OMIMPS_105250 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:353220 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204538 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:353308 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204539 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:353314 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204540 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:353320 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204596 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080388 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:357008 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204606 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009054 biolink:NamedThing autosomal recessive cutis laxa type 2, classic type phenio_relaxed_subqs.owl DOID:0070136 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C562632 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_73856006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:357074 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204661 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080620 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002498 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C565974 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0040502 biolink:NamedThing glucocorticoid deficiency 5 phenio_relaxed_subqs.owl NCIT:C120446 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_202200 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_765326001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:361 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204670 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:36235 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204685 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007167 biolink:NamedThing atelosteogenesis type I Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. phenio_relaxed_subqs.owl MONDO:0007168 biolink:NamedThing atelosteogenesis type III Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings. phenio_relaxed_subqs.owl MONDO:0018571 biolink:NamedThing contractures-developmental delay-Pierre Robin syndrome phenio_relaxed_subqs.owl MONDO:0018923 biolink:NamedThing 22q11.2 deletion syndrome 22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. phenio_relaxed_subqs.owl ORPHA:363294 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204693 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:363429 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204706 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:363534 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204714 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:363618 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204718 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018204 biolink:NamedThing 20q11.2 microduplication syndrome 20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features. phenio_relaxed_subqs.owl OBO:SCTID_763061004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:363659 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204726 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:363700 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204729 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:363717 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204730 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:363722 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204734 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:36382 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204742 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:363969 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204816 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010334 biolink:NamedThing severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy). phenio_relaxed_subqs.owl OBO:MESH_C564508 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:300475 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:369939 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204818 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018248 biolink:NamedThing intellectual disability-seizures-macrocephaly-obesity syndrome Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality. phenio_relaxed_subqs.owl ORPHA:369950 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204822 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:369979 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204824 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018250 biolink:NamedThing diffuse palmoplantar keratoderma with painful fissures phenio_relaxed_subqs.owl ORPHA:369999 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204827 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018252 biolink:NamedThing focal palmoplantar keratoderma with joint keratoses phenio_relaxed_subqs.owl ORPHA:370002 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204842 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070099 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:615312 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722057000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:370091 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204859 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018273 biolink:NamedThing XYLT1-CDG phenio_relaxed_subqs.owl ORPHA:370930 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204877 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_615419 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:371364 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204933 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018306 biolink:NamedThing Griscelli syndrome Griscelli syndrome (GS) is characterised by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3). phenio_relaxed_subqs.owl DOID:0060831 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010913 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_214450 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_37548006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:381 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204945 biolink:NamedThing phenio_relaxed_subqs.owl DOID:6994 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C9088 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_255012009 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204961 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:391343 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204967 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018319 biolink:NamedThing familial episodic pain syndrome phenio_relaxed_subqs.owl UMLS:CN228162 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111728 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012684 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_615040 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:391384 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204971 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:391408 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204974 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:391428 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204975 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:391457 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN204984 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008115 biolink:NamedThing Feingold syndrome type 1 Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies. phenio_relaxed_subqs.owl OMIM:164280 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_702431004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:391641 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:394529 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:394532 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205032 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018365 biolink:NamedThing malignant non-epithelial tumor of ovary phenio_relaxed_subqs.owl ORPHA:398940 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205077 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090109 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002877 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011013 biolink:NamedThing autosomal dominant hypocalcemia 1 Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene. phenio_relaxed_subqs.owl OBO:OMIMPS_601198 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_711152006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:428 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205145 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018835 biolink:NamedThing nodular regenerative hyperplasia of the liver Nodular regenerative hyperplasia of the liver is a rare parenchymatous liver disease characterized by diffuse benign transformation of the hepatic parenchyma into multiple small nodules (composed of regenerating hepatocytes) and that is usually asymptomatic but can lead to the development of non-cirrhotic portal hypertension and its complications, including esophageal variceal bleeding, hypersplenism and ascites. It is often associated with rheumatologic, autoimmune, hematologic, and myeloproliferative disorders as well as various immune deficiency states and exposure certain drugs and toxins. phenio_relaxed_subqs.owl OBO:GARD_0010929 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715140008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:48372 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205162 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:495 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205191 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018865 biolink:NamedThing striate palmoplantar keratoderma Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed. phenio_relaxed_subqs.owl OBO:SCTID_764958008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:50942 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205225 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018878 biolink:NamedThing branchiootic syndrome Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space). phenio_relaxed_subqs.owl DOID:0060232 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010148 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_764810000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:52429 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205270 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715574002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:54247 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205308 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008644 biolink:NamedThing velocardiofacial syndrome A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features. phenio_relaxed_subqs.owl DOID:12583 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:192430 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205436 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050542 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012444 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010689 biolink:NamedThing Charcot-Marie-Tooth disease X-linked recessive 4 X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype. phenio_relaxed_subqs.owl OBO:SCTID_230552007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:64747 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205478 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:66518 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205496 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019027 biolink:NamedThing otopalatodigital syndrome Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders. phenio_relaxed_subqs.owl OBO:GARD_0007293 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010571 biolink:NamedThing otopalatodigital syndrome type 2 Otopalatodigital syndrome type 2 (OPD2) is a severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival. phenio_relaxed_subqs.owl MONDO:0010704 biolink:NamedThing otopalatodigital syndrome type 1 Otopalatodigital syndrome type 1 (OPD1) is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. phenio_relaxed_subqs.owl OBO:SCTID_767130007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:669 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205519 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019036 biolink:NamedThing amoebiasis due to free-living amoebae Free-living amebae belonging to the genera Acanthamoeba, Balamuthia, Naegleria and Sappinia are important causes of disease in humans and animals. Naegleria fowleri produces an acute, and usually lethal, central nervous system (CNS) disease called primary amebic meningoencephalitis (PAM). Acanthamoeba spp. and Balamuthia mandrillaris are opportunistic free-living amebae capable of causing granulomatous amebic encephalitis (GAE) in individuals with compromised immune systems. Sappinia pedata has been implicated in a case of amebic encephalitis. Naegleria fowleri and Acanthamoeba spp., are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. phenio_relaxed_subqs.owl OBO:GARD_0012650 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:68 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205539 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019058 biolink:NamedThing neurometabolic disease phenio_relaxed_subqs.owl MONDO:0000171 biolink:NamedThing muscular dystrophy-dystroglycanopathy, type A phenio_relaxed_subqs.owl MONDO:0000188 biolink:NamedThing GLUT1 deficiency syndrome phenio_relaxed_subqs.owl MONDO:0008695 biolink:NamedThing chorea-acanthocytosis Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances. phenio_relaxed_subqs.owl MONDO:0009607 biolink:NamedThing methionine adenosyltransferase deficiency Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination. phenio_relaxed_subqs.owl MONDO:0009958 biolink:NamedThing adult Refsum disease A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues. phenio_relaxed_subqs.owl MONDO:0010188 biolink:NamedThing familial isolated deficiency of vitamin E Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E. phenio_relaxed_subqs.owl MONDO:0010305 biolink:NamedThing creatine transporter deficiency X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures. phenio_relaxed_subqs.owl MONDO:0011603 biolink:NamedThing GNE myopathy Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps. phenio_relaxed_subqs.owl MONDO:0011787 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2I Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported. phenio_relaxed_subqs.owl MONDO:0011933 biolink:NamedThing ALG2-CDG A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive. phenio_relaxed_subqs.owl MONDO:0012118 biolink:NamedThing COG7-CDG COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex. phenio_relaxed_subqs.owl MONDO:0012248 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2K Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported. phenio_relaxed_subqs.owl MONDO:0012637 biolink:NamedThing COG1-CDG COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism. phenio_relaxed_subqs.owl MONDO:0016088 biolink:NamedThing hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency. phenio_relaxed_subqs.owl MONDO:0018162 biolink:NamedThing neurometabolic disorder due to serine deficiency Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency. phenio_relaxed_subqs.owl MONDO:0018163 biolink:NamedThing autosomal recessive cutis laxa type 2A An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24. phenio_relaxed_subqs.owl MONDO:0018277 biolink:NamedThing congenital muscular dystrophy with cerebellar involvement phenio_relaxed_subqs.owl MONDO:0018278 biolink:NamedThing congenital muscular dystrophy with intellectual disability phenio_relaxed_subqs.owl MONDO:0018279 biolink:NamedThing congenital muscular dystrophy without intellectual disability phenio_relaxed_subqs.owl MONDO:0018477 biolink:NamedThing bilirubin encephalopathy phenio_relaxed_subqs.owl MONDO:0018495 biolink:NamedThing X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination. phenio_relaxed_subqs.owl MONDO:0018939 biolink:NamedThing muscle-eye-brain disease A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported. phenio_relaxed_subqs.owl MONDO:0018945 biolink:NamedThing McLeod neuroacanthocytosis syndrome A form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens. phenio_relaxed_subqs.owl MONDO:0019197 biolink:NamedThing folinic acid-responsive seizures Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid. phenio_relaxed_subqs.owl MONDO:0021022 biolink:NamedThing hereditary hyperekplexia Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. phenio_relaxed_subqs.owl MONDO:0032566 biolink:NamedThing squalene synthase deficiency phenio_relaxed_subqs.owl MONDO:0100064 biolink:NamedThing tyrosine hydroxylase deficiency Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa). phenio_relaxed_subqs.owl ORPHA:68385 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205563 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019073 biolink:NamedThing hypotrichosis-lymphedema-telangiectasia-renal defect syndrome phenio_relaxed_subqs.owl DOID:0111360 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0002492 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536825 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:137940 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205578 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:70474 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205627 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_187950 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720950009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:71493 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205639 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000137 biolink:NamedThing leukoencephalopathy, megalencephalic phenio_relaxed_subqs.owl MONDO:0000166 biolink:NamedThing encephalopathy, acute, infection-induced phenio_relaxed_subqs.owl MONDO:0000172 biolink:NamedThing muscular dystrophy-dystroglycanopathy, type B phenio_relaxed_subqs.owl MONDO:0000173 biolink:NamedThing muscular dystrophy-dystroglycanopathy, type C phenio_relaxed_subqs.owl MONDO:0000181 biolink:NamedThing microcephaly and chorioretinopathy phenio_relaxed_subqs.owl MONDO:0000208 biolink:NamedThing microcephaly, short stature, and impaired glucose metabolism 1 phenio_relaxed_subqs.owl MONDO:0000355 biolink:NamedThing Ullrich congenital muscular dystrophy Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence. phenio_relaxed_subqs.owl MONDO:0000723 biolink:NamedThing stutter disorder A speech disorder characterized by frequent sound or syllable repetitions, sound prolongations, or other dysfluencies that are inappropriate for the individual's age. phenio_relaxed_subqs.owl MONDO:0000724 biolink:NamedThing specific language impairment A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. phenio_relaxed_subqs.owl MONDO:0000819 biolink:NamedThing anencephaly A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus. phenio_relaxed_subqs.owl MONDO:0000904 biolink:NamedThing complex cortical dysplasia with other brain malformations phenio_relaxed_subqs.owl MONDO:0001347 biolink:NamedThing facioscapulohumeral muscular dystrophy An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well. phenio_relaxed_subqs.owl MONDO:0003233 biolink:NamedThing essential tremor A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10) phenio_relaxed_subqs.owl MONDO:0004587 biolink:NamedThing hereditary night blindness An instance of night blindness that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0005259 biolink:NamedThing Asperger syndrome A disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates Asperger Syndrome from autism. phenio_relaxed_subqs.owl MONDO:0005391 biolink:NamedThing restless legs syndrome A condition that occurs while resting or lying in bed; it is characterized by an irresistible urgency to move the legs to obtain relief from a strange and uncomfortable sensation in the legs. phenio_relaxed_subqs.owl MONDO:0005579 biolink:NamedThing epilepsy, idiopathic generalized A chronic condition characterised by recurrent generalised seizures. phenio_relaxed_subqs.owl MONDO:0005712 biolink:NamedThing congenital nystagmus Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275) phenio_relaxed_subqs.owl MONDO:0007045 biolink:NamedThing acrofacial dysostosis, Catania type Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males. phenio_relaxed_subqs.owl MONDO:0007085 biolink:NamedThing alopecia-epilepsy-pyorrhea-intellectual disability syndrome Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. phenio_relaxed_subqs.owl MONDO:0007316 biolink:NamedThing Chiari malformation type I Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic. phenio_relaxed_subqs.owl MONDO:0007354 biolink:NamedThing coloboma of optic nerve phenio_relaxed_subqs.owl MONDO:0007401 biolink:NamedThing craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant. phenio_relaxed_subqs.owl MONDO:0007537 biolink:NamedThing lateral meningocele syndrome phenio_relaxed_subqs.owl MONDO:0007614 biolink:NamedThing congenital fibrosis of extraocular muscles phenio_relaxed_subqs.owl MONDO:0007621 biolink:NamedThing floating-Harbor syndrome Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay. phenio_relaxed_subqs.owl MONDO:0007626 biolink:NamedThing familial congenital palsy of trochlear nerve An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0007716 biolink:NamedThing alpha thalassemia-intellectual disability syndrome type 1 Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities. phenio_relaxed_subqs.owl MONDO:0007753 biolink:NamedThing Frey syndrome An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with parotid neoplasms, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5) phenio_relaxed_subqs.owl MONDO:0007846 biolink:NamedThing KBG syndrome KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay. phenio_relaxed_subqs.owl MONDO:0007892 biolink:NamedThing Lenz-Majewski hyperostotic dwarfism Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis. phenio_relaxed_subqs.owl MONDO:0008029 biolink:NamedThing Bethlem myopathy A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles. phenio_relaxed_subqs.owl MONDO:0008055 biolink:NamedThing myotonia congenita, autosomal dominant phenio_relaxed_subqs.owl MONDO:0008097 biolink:NamedThing linear nevus sebaceous syndrome Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement). phenio_relaxed_subqs.owl MONDO:0008114 biolink:NamedThing obsessive-compulsive disorder A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety. phenio_relaxed_subqs.owl MONDO:0008116 biolink:NamedThing oculopharyngeal muscular dystrophy Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness. phenio_relaxed_subqs.owl MONDO:0008137 biolink:NamedThing orofaciodigital syndrome X Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993. phenio_relaxed_subqs.owl MONDO:0008187 biolink:NamedThing panic disorder 1 phenio_relaxed_subqs.owl MONDO:0008195 biolink:NamedThing paramyotonia congenita of Von Eulenburg Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3). phenio_relaxed_subqs.owl MONDO:0008267 biolink:NamedThing orofaciodigital syndrome V Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum). phenio_relaxed_subqs.owl MONDO:0008337 biolink:NamedThing familial pterygium of the conjunctiva Familial pterygium of the conjunctiva is a rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision. phenio_relaxed_subqs.owl MONDO:0008467 biolink:NamedThing Czeizel-Losonci syndrome Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987. phenio_relaxed_subqs.owl MONDO:0008501 biolink:NamedThing Sturge-Weber syndrome Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies. phenio_relaxed_subqs.owl MONDO:0008610 biolink:NamedThing blue color blindness Tritanopia is an extremely rare form of colour blindness characterised by a selective deficiency of blue vision. phenio_relaxed_subqs.owl MONDO:0008714 biolink:NamedThing acrofacial dysostosis Rodriguez type Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth. phenio_relaxed_subqs.owl MONDO:0008740 biolink:NamedThing agnathia-otocephaly complex Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis. phenio_relaxed_subqs.owl MONDO:0008756 biolink:NamedThing alopecia - intellectual disability syndrome Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia. phenio_relaxed_subqs.owl MONDO:0008795 biolink:NamedThing aniridia-cerebellar ataxia-intellectual disability syndrome Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability. phenio_relaxed_subqs.owl MONDO:0008796 biolink:NamedThing aniridia-renal agenesis-psychomotor retardation syndrome Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974. phenio_relaxed_subqs.owl MONDO:0008816 biolink:NamedThing Chiari malformation type II Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache. phenio_relaxed_subqs.owl MONDO:0008893 biolink:NamedThing C syndrome C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability. phenio_relaxed_subqs.owl MONDO:0008941 biolink:NamedThing hepatic fibrosis-renal cysts-intellectual disability syndrome Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987. phenio_relaxed_subqs.owl MONDO:0008952 biolink:NamedThing cerebrofaciothoracic dysplasia Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities. phenio_relaxed_subqs.owl MONDO:0009012 biolink:NamedThing multiple pterygium-malignant hyperthermia syndrome Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988. phenio_relaxed_subqs.owl MONDO:0009022 biolink:NamedThing corpus callosum, agenesis of A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment. phenio_relaxed_subqs.owl MONDO:0009036 biolink:NamedThing cardiocranial syndrome, Pfeiffer type Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit). phenio_relaxed_subqs.owl MONDO:0009168 biolink:NamedThing Fowler syndrome phenio_relaxed_subqs.owl MONDO:0009386 biolink:NamedThing hyperlexia phenio_relaxed_subqs.owl MONDO:0009485 biolink:NamedThing oculocerebrofacial syndrome, Kaufman type phenio_relaxed_subqs.owl MONDO:0009495 biolink:NamedThing Keutel syndrome Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. phenio_relaxed_subqs.owl MONDO:0009564 biolink:NamedThing Marden-Walker syndrome Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly. phenio_relaxed_subqs.owl MONDO:0009578 biolink:NamedThing neurocutaneous melanocytosis Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death. phenio_relaxed_subqs.owl MONDO:0009620 biolink:NamedThing Say-Barber-Miller syndrome Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation. phenio_relaxed_subqs.owl MONDO:0009679 biolink:NamedThing arthrogryposis due to muscular dystrophy phenio_relaxed_subqs.owl MONDO:0009798 biolink:NamedThing intellectual disability-cataracts-calcified pinnae-myopathy syndrome Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy. phenio_relaxed_subqs.owl MONDO:0009952 biolink:NamedThing radioulnar synostosis-developmental delay-hypotonia syndrome Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears). phenio_relaxed_subqs.owl MONDO:0010069 biolink:NamedThing spondylocostal dysostosis-anal and genitourinary malformations syndrome Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterised by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested. phenio_relaxed_subqs.owl MONDO:0010092 biolink:NamedThing Filippi syndrome Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive. phenio_relaxed_subqs.owl MONDO:0010397 biolink:NamedThing severe neonatal-onset encephalopathy with microcephaly An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy. phenio_relaxed_subqs.owl MONDO:0010428 biolink:NamedThing chromosome Xp11.23-p11.22 duplication syndrome A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. phenio_relaxed_subqs.owl MONDO:0010441 biolink:NamedThing CK syndrome phenio_relaxed_subqs.owl MONDO:0010564 biolink:NamedThing red-green color blindness Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population. phenio_relaxed_subqs.owl MONDO:0010565 biolink:NamedThing red color blindness Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males. phenio_relaxed_subqs.owl MONDO:0010648 biolink:NamedThing major affective disorder 2 phenio_relaxed_subqs.owl MONDO:0010684 biolink:NamedThing X-linked myopathy with excessive autophagy X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings. phenio_relaxed_subqs.owl MONDO:0010778 biolink:NamedThing cyclic vomiting syndrome A rare abnormality of the neuroendocrine system that is characterized by episodic nausea and vomiting. phenio_relaxed_subqs.owl MONDO:0010826 biolink:NamedThing childhood absence epilepsy Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis. phenio_relaxed_subqs.owl MONDO:0010831 biolink:NamedThing familial caudal dysgenesis Familial caudal dysgenesis is a rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies. phenio_relaxed_subqs.owl MONDO:0010851 biolink:NamedThing Lowry-MacLean syndrome Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. phenio_relaxed_subqs.owl MONDO:0010865 biolink:NamedThing pseudoaminopterin syndrome Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature. phenio_relaxed_subqs.owl MONDO:0011011 biolink:NamedThing skeletal dysplasia-epilepsy-short stature syndrome Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait. phenio_relaxed_subqs.owl MONDO:0011045 biolink:NamedThing MMEP syndrome A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. phenio_relaxed_subqs.owl MONDO:0011049 biolink:NamedThing fine-Lubinsky syndrome Fine-Lubinsky syndrome is characterised by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies. phenio_relaxed_subqs.owl MONDO:0011184 biolink:NamedThing childhood apraxia of speech phenio_relaxed_subqs.owl MONDO:0011240 biolink:NamedThing megalencephaly-capillary malformation-polymicrogyria syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism. phenio_relaxed_subqs.owl MONDO:0011365 biolink:NamedThing blepharophimosis - intellectual disability syndrome, SBBYS type Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested. phenio_relaxed_subqs.owl MONDO:0011479 biolink:NamedThing postural orthostatic tachycardia syndrome A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart. phenio_relaxed_subqs.owl MONDO:0011518 biolink:NamedThing Wiedemann-Steiner syndrome Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language. phenio_relaxed_subqs.owl MONDO:0011640 biolink:NamedThing genitopatellar syndrome Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency. phenio_relaxed_subqs.owl MONDO:0011738 biolink:NamedThing bilateral frontoparietal polymicrogyria Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus. phenio_relaxed_subqs.owl MONDO:0011789 biolink:NamedThing familial meningioma A meningioma that is transmitted from the parents to an offspring. phenio_relaxed_subqs.owl MONDO:0011876 biolink:NamedThing juvenile absence epilepsy Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks. phenio_relaxed_subqs.owl MONDO:0011918 biolink:NamedThing anxiety phenio_relaxed_subqs.owl MONDO:0012000 biolink:NamedThing specific phobia An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable. phenio_relaxed_subqs.owl MONDO:0012048 biolink:NamedThing endogenous depression Depression which is considered strictly biological. phenio_relaxed_subqs.owl MONDO:0012143 biolink:NamedThing hereditary cryohydrocytosis with reduced stomatin phenio_relaxed_subqs.owl MONDO:0012149 biolink:NamedThing attention deficit-hyperactivity disorder, susceptibility to, 1 phenio_relaxed_subqs.owl MONDO:0012150 biolink:NamedThing attention deficit-hyperactivity disorder, susceptibility to, 2 phenio_relaxed_subqs.owl MONDO:0012151 biolink:NamedThing attention deficit-hyperactivity disorder, susceptibility to, 3 phenio_relaxed_subqs.owl MONDO:0012152 biolink:NamedThing attention deficit-hyperactivity disorder, susceptibility to, 4 phenio_relaxed_subqs.owl MONDO:0012455 biolink:NamedThing Kleefstra syndrome A genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features. phenio_relaxed_subqs.owl MONDO:0012482 biolink:NamedThing West Nile virus, susceptibility to phenio_relaxed_subqs.owl MONDO:0012484 biolink:NamedThing prosopagnosia, hereditary An instance of prosopagnosia (disease) that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0012593 biolink:NamedThing brain-lung-thyroid syndrome Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC). phenio_relaxed_subqs.owl MONDO:0012774 biolink:NamedThing chromosome 15q13.3 microdeletion syndrome 15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features. phenio_relaxed_subqs.owl MONDO:0012862 biolink:NamedThing attention deficit-hyperactivity disorder, susceptibility to, 5 phenio_relaxed_subqs.owl MONDO:0012863 biolink:NamedThing attention deficit-hyperactivity disorder, susceptibility to, 6 phenio_relaxed_subqs.owl MONDO:0012986 biolink:NamedThing bilateral parasagittal parieto-occipital polymicrogyria phenio_relaxed_subqs.owl MONDO:0013098 biolink:NamedThing noise induced hearing loss A condition in which a person loses the ability to hear due to exposure to high intensity sound. phenio_relaxed_subqs.owl MONDO:0013178 biolink:NamedThing congenital muscular dystrophy due to LMNA mutation Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported. phenio_relaxed_subqs.owl MONDO:0013245 biolink:NamedThing syndromic multisystem autoimmune disease due to ITCH deficiency phenio_relaxed_subqs.owl MONDO:0013351 biolink:NamedThing infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination. phenio_relaxed_subqs.owl MONDO:0013352 biolink:NamedThing intellectual disability-severe speech delay-mild dysmorphism syndrome Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads anddelatyed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family). It is caused by alterations (mutations) in the caused by heterozygous mutation in the FOXP1 gene. phenio_relaxed_subqs.owl MONDO:0013362 biolink:NamedThing THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome phenio_relaxed_subqs.owl MONDO:0013424 biolink:NamedThing 3p- syndrome Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated. phenio_relaxed_subqs.owl MONDO:0013583 biolink:NamedThing occipital pachygyria and polymicrogyria phenio_relaxed_subqs.owl MONDO:0013690 biolink:NamedThing Pitt-Hopkins-like syndrome 2 Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene. phenio_relaxed_subqs.owl MONDO:0013784 biolink:NamedThing lethal neonatal spasticity-epileptic encephalopathy syndrome phenio_relaxed_subqs.owl MONDO:0013981 biolink:NamedThing myoclonus, familial A rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent. phenio_relaxed_subqs.owl MONDO:0014119 biolink:NamedThing intellectual disability-strabismus syndrome phenio_relaxed_subqs.owl MONDO:0014205 biolink:NamedThing severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome phenio_relaxed_subqs.owl MONDO:0014210 biolink:NamedThing intellectual disability-hypotonia-spasticity-sleep disorder syndrome phenio_relaxed_subqs.owl MONDO:0014224 biolink:NamedThing developmental delay with autism spectrum disorder and gait instability Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior. phenio_relaxed_subqs.owl MONDO:0014238 biolink:NamedThing severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome phenio_relaxed_subqs.owl MONDO:0014273 biolink:NamedThing microcephaly-thin corpus callosum-intellectual disability syndrome Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated. phenio_relaxed_subqs.owl MONDO:0014289 biolink:NamedThing macrocephaly-developmental delay syndrome Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally. phenio_relaxed_subqs.owl MONDO:0014300 biolink:NamedThing proximal myopathy with extrapyramidal signs Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy. phenio_relaxed_subqs.owl MONDO:0014314 biolink:NamedThing sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome phenio_relaxed_subqs.owl MONDO:0014320 biolink:NamedThing Bosch-Boonstra-Schaaf optic atrophy syndrome Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific. phenio_relaxed_subqs.owl MONDO:0014333 biolink:NamedThing polymicrogyria, bilateral perisylvian, autosomal recessive phenio_relaxed_subqs.owl MONDO:0014382 biolink:NamedThing tall stature-intellectual disability-facial dysmorphism syndrome phenio_relaxed_subqs.owl MONDO:0014419 biolink:NamedThing ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease. phenio_relaxed_subqs.owl MONDO:0014559 biolink:NamedThing progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome phenio_relaxed_subqs.owl MONDO:0014643 biolink:NamedThing congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome phenio_relaxed_subqs.owl MONDO:0014679 biolink:NamedThing polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis phenio_relaxed_subqs.owl MONDO:0014716 biolink:NamedThing macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome phenio_relaxed_subqs.owl MONDO:0014741 biolink:NamedThing facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation phenio_relaxed_subqs.owl MONDO:0014748 biolink:NamedThing progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome phenio_relaxed_subqs.owl MONDO:0014773 biolink:NamedThing cardiac anomalies - developmental delay - facial dysmorphism syndrome phenio_relaxed_subqs.owl MONDO:0014785 biolink:NamedThing microcephaly, short stature, and impaired glucose metabolism 2 Any microcephaly, short stature, and impaired glucose metabolism in which the cause of the disease is a mutation in the PPP1R15B gene. phenio_relaxed_subqs.owl MONDO:0014824 biolink:NamedThing craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome phenio_relaxed_subqs.owl MONDO:0014886 biolink:NamedThing severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome phenio_relaxed_subqs.owl MONDO:0014896 biolink:NamedThing congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome phenio_relaxed_subqs.owl MONDO:0014952 biolink:NamedThing intellectual disability-epilepsy-extrapyramidal syndrome phenio_relaxed_subqs.owl MONDO:0015198 biolink:NamedThing aniridia-ptosis-intellectual disability-familial obesity syndrome Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986. phenio_relaxed_subqs.owl MONDO:0015199 biolink:NamedThing aniridia - intellectual disability syndrome Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974. phenio_relaxed_subqs.owl MONDO:0015324 biolink:NamedThing cataract-intellectual disability-anal atresia-urinary defects syndrome Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. phenio_relaxed_subqs.owl MONDO:0015547 biolink:NamedThing genetic dementia Genetic dementia. phenio_relaxed_subqs.owl MONDO:0015609 biolink:NamedThing advanced sleep phase syndrome Familial advanced sleep-phase syndrome (FASPS) is a very rare circadian rhythm sleep disorder characterized by very early sleep onset and offset possibly resulting in emotional and physical disruptions. phenio_relaxed_subqs.owl MONDO:0015752 biolink:NamedThing intellectual disability-cataracts-kyphosis syndrome This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence. phenio_relaxed_subqs.owl MONDO:0015921 biolink:NamedThing ARX-related epileptic encephalopathy phenio_relaxed_subqs.owl MONDO:0016027 biolink:NamedThing benign neonatal seizures A rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life. phenio_relaxed_subqs.owl MONDO:0016056 biolink:NamedThing isolated congenital microcephaly phenio_relaxed_subqs.owl MONDO:0016107 biolink:NamedThing myotonic dystrophy An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies. phenio_relaxed_subqs.owl MONDO:0016210 biolink:NamedThing alternating hemiplegia phenio_relaxed_subqs.owl MONDO:0016349 biolink:NamedThing congenital hydrocephalus Hydrocephalus that is present at birth. phenio_relaxed_subqs.owl MONDO:0016558 biolink:NamedThing familial congenital mirror movements Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected. phenio_relaxed_subqs.owl MONDO:0016589 biolink:NamedThing progressive cerebello-cerebral atrophy phenio_relaxed_subqs.owl MONDO:0016760 biolink:NamedThing microcephaly-microcornea syndrome, Seemanova type Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait. phenio_relaxed_subqs.owl MONDO:0016830 biolink:NamedThing Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy. phenio_relaxed_subqs.owl MONDO:0016899 biolink:NamedThing Duchenne and Becker muscular dystrophy Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle. phenio_relaxed_subqs.owl MONDO:0017089 biolink:NamedThing isolated megalencephaly A megalencephaly (disease) that is not part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0017090 biolink:NamedThing midline cerebral malformation phenio_relaxed_subqs.owl MONDO:0017317 biolink:NamedThing phakomatosis pigmentokeratotica Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies. phenio_relaxed_subqs.owl MONDO:0017398 biolink:NamedThing 3MC syndrome 3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti. phenio_relaxed_subqs.owl MONDO:0017615 biolink:NamedThing benign familial infantile epilepsy Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life. phenio_relaxed_subqs.owl MONDO:0017704 biolink:NamedThing familial partial epilepsy An instance of partial epilepsy that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0017805 biolink:NamedThing intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome phenio_relaxed_subqs.owl MONDO:0017811 biolink:NamedThing severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion phenio_relaxed_subqs.owl MONDO:0017813 biolink:NamedThing van Maldergem syndrome Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia. phenio_relaxed_subqs.owl MONDO:0017868 biolink:NamedThing diencephalic-mesencephalic junction dysplasia Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described. phenio_relaxed_subqs.owl MONDO:0017892 biolink:NamedThing autosomal recessive myogenic arthrogryposis multiplex congenita Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life. phenio_relaxed_subqs.owl MONDO:0017950 biolink:NamedThing microcephalic primordial dwarfism phenio_relaxed_subqs.owl MONDO:0017995 biolink:NamedThing spondylocostal dysostosis-hypospadias-intellectual disability syndrome phenio_relaxed_subqs.owl MONDO:0018091 biolink:NamedThing microcephaly-brachydactyly-kyphoscoliosis syndrome Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. phenio_relaxed_subqs.owl MONDO:0018214 biolink:NamedThing generalized epilepsy with febrile seizures plus A familial epilepsy syndrome in which family members display a seizure disorder from the generalized epilepsy with febrile seizures plus spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS). phenio_relaxed_subqs.owl MONDO:0018257 biolink:NamedThing familial syringomyelia An instance of syringomyelia that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0018341 biolink:NamedThing 3q27.3 microdeletion syndrome 3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. phenio_relaxed_subqs.owl MONDO:0018428 biolink:NamedThing 9q31.1q31.3 microdeletion syndrome phenio_relaxed_subqs.owl MONDO:0018493 biolink:NamedThing malignant hyperthermia of anesthesia Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat. phenio_relaxed_subqs.owl MONDO:0018564 biolink:NamedThing 3p25.3 microdeletion syndrome 3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements. phenio_relaxed_subqs.owl MONDO:0018655 biolink:NamedThing hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome phenio_relaxed_subqs.owl MONDO:0018681 biolink:NamedThing neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome phenio_relaxed_subqs.owl MONDO:0018725 biolink:NamedThing corpus callosum agenesis-macrocephaly-hypertelorism syndrome phenio_relaxed_subqs.owl MONDO:0018763 biolink:NamedThing Tubulinopathy-associated dysgyria phenio_relaxed_subqs.owl MONDO:0018810 biolink:NamedThing lethal hydranencephaly-diaphragmatic hernia syndrome Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated. phenio_relaxed_subqs.owl MONDO:0018825 biolink:NamedThing PYCR2-related microcephaly-progressive leukoencephalopathy PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders. phenio_relaxed_subqs.owl MONDO:0018838 biolink:NamedThing lissencephaly spectrum disorders The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis. phenio_relaxed_subqs.owl MONDO:0018852 biolink:NamedThing achromatopsia Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function. phenio_relaxed_subqs.owl MONDO:0018949 biolink:NamedThing distal myopathy Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands. phenio_relaxed_subqs.owl MONDO:0018953 biolink:NamedThing parietal foramina Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies. phenio_relaxed_subqs.owl MONDO:0019078 biolink:NamedThing Ritscher-Schinzel syndrome Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. phenio_relaxed_subqs.owl MONDO:0019497 biolink:NamedThing nonsyndromic genetic hearing loss A disease characterized by hearing loss that is not part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0020074 biolink:NamedThing progressive myoclonus epilepsy A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system. phenio_relaxed_subqs.owl MONDO:0020127 biolink:NamedThing genetic peripheral neuropathy Genetic peripheral neuropathy. phenio_relaxed_subqs.owl MONDO:0020132 biolink:NamedThing cranial nerve and nuclear aplasia phenio_relaxed_subqs.owl MONDO:0020135 biolink:NamedThing pontocerebellar hypoplasia Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern. phenio_relaxed_subqs.owl MONDO:0020341 biolink:NamedThing periventricular nodular heterotopia Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males. phenio_relaxed_subqs.owl MONDO:0020495 biolink:NamedThing peho-like syndrome PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. phenio_relaxed_subqs.owl MONDO:0020627 biolink:NamedThing epileptic encephalopathy, infantile or early childhood phenio_relaxed_subqs.owl MONDO:0020841 biolink:NamedThing neurodevelopmental disorder with cerebellar atrophy and with or without seizures phenio_relaxed_subqs.owl MONDO:0021011 biolink:NamedThing hereditary progressive chorea without dementia phenio_relaxed_subqs.owl MONDO:0021107 biolink:NamedThing narcolepsy A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day. phenio_relaxed_subqs.owl MONDO:0021272 biolink:NamedThing inherited orthostatic hypotension phenio_relaxed_subqs.owl MONDO:0021944 biolink:NamedThing auditory neuropathy A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception. phenio_relaxed_subqs.owl MONDO:0022020 biolink:NamedThing Boudhina Yedes Khiari syndrome Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions phenio_relaxed_subqs.owl MONDO:0022410 biolink:NamedThing retinal ciliopathy phenio_relaxed_subqs.owl MONDO:0022557 biolink:NamedThing Behrens Baumann dust syndrome phenio_relaxed_subqs.owl MONDO:0023224 biolink:NamedThing inherited reflex epilepsy An instance of reflex epilepsy that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0030024 biolink:NamedThing neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities phenio_relaxed_subqs.owl MONDO:0030025 biolink:NamedThing neurodevelopmental disorder with hypotonia, microcephaly, and seizures phenio_relaxed_subqs.owl MONDO:0030046 biolink:NamedThing neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity phenio_relaxed_subqs.owl MONDO:0030060 biolink:NamedThing neurodevelopmental disorder with language impairment and behavioral abnormalities phenio_relaxed_subqs.owl MONDO:0030063 biolink:NamedThing neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities phenio_relaxed_subqs.owl MONDO:0030837 biolink:NamedThing neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities phenio_relaxed_subqs.owl MONDO:0030852 biolink:NamedThing neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities phenio_relaxed_subqs.owl MONDO:0030866 biolink:NamedThing neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities phenio_relaxed_subqs.owl MONDO:0030930 biolink:NamedThing neurodevelopmental disorder with or without early-onset generalized epilepsy phenio_relaxed_subqs.owl MONDO:0030994 biolink:NamedThing neurodevelopmental disorder with or without autism or seizures phenio_relaxed_subqs.owl MONDO:0030999 biolink:NamedThing neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism phenio_relaxed_subqs.owl MONDO:0031011 biolink:NamedThing neurodevelopmental disorder with dysmorphic facies and variable seizures phenio_relaxed_subqs.owl MONDO:0032594 biolink:NamedThing intellectual developmental disorder and retinitis pigmentosa; IDDRP phenio_relaxed_subqs.owl MONDO:0032661 biolink:NamedThing neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia phenio_relaxed_subqs.owl MONDO:0032697 biolink:NamedThing neurodevelopmental disorder and language delay with or without structural brain abnormalities phenio_relaxed_subqs.owl MONDO:0032698 biolink:NamedThing neurodevelopmental disorder with central and peripheral motor dysfunction phenio_relaxed_subqs.owl MONDO:0032741 biolink:NamedThing neurodevelopmental disorder with impaired speech and hyperkinetic movements phenio_relaxed_subqs.owl MONDO:0032755 biolink:NamedThing neurodevelopmental disorder with or without variable brain abnormalities; NEDBA phenio_relaxed_subqs.owl MONDO:0032775 biolink:NamedThing neurodevelopmental disorder with seizures and speech and walking impairment phenio_relaxed_subqs.owl MONDO:0032779 biolink:NamedThing neurodevelopmental disorder with microcephaly and structural brain anomalies phenio_relaxed_subqs.owl MONDO:0032784 biolink:NamedThing neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements phenio_relaxed_subqs.owl MONDO:0032790 biolink:NamedThing neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities phenio_relaxed_subqs.owl MONDO:0032807 biolink:NamedThing neurodevelopmental disorder with visual defects and brain anomalies phenio_relaxed_subqs.owl MONDO:0032816 biolink:NamedThing neurodevelopmental disorder with ataxia, hypotonia, and microcephaly phenio_relaxed_subqs.owl MONDO:0032817 biolink:NamedThing neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies phenio_relaxed_subqs.owl MONDO:0032818 biolink:NamedThing neurodevelopmental disorder with cerebellar hypoplasia and spasticity phenio_relaxed_subqs.owl MONDO:0032820 biolink:NamedThing neurodevelopmental disorder with structural brain anomalies and dysmorphic facies phenio_relaxed_subqs.owl MONDO:0032829 biolink:NamedThing neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities phenio_relaxed_subqs.owl MONDO:0032838 biolink:NamedThing neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies phenio_relaxed_subqs.owl MONDO:0032849 biolink:NamedThing neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies phenio_relaxed_subqs.owl MONDO:0032855 biolink:NamedThing neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies phenio_relaxed_subqs.owl MONDO:0032876 biolink:NamedThing neurodevelopmental disorder with absent language and variable seizures phenio_relaxed_subqs.owl MONDO:0032877 biolink:NamedThing neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures phenio_relaxed_subqs.owl MONDO:0032878 biolink:NamedThing neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia phenio_relaxed_subqs.owl MONDO:0032887 biolink:NamedThing neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity phenio_relaxed_subqs.owl MONDO:0032888 biolink:NamedThing neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies phenio_relaxed_subqs.owl MONDO:0032889 biolink:NamedThing Poirier-Bienvenu neurodevelopmental syndrome phenio_relaxed_subqs.owl MONDO:0032894 biolink:NamedThing neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy phenio_relaxed_subqs.owl MONDO:0032900 biolink:NamedThing neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements phenio_relaxed_subqs.owl MONDO:0032921 biolink:NamedThing neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation phenio_relaxed_subqs.owl MONDO:0032942 biolink:NamedThing neurodevelopmental disorder with microcephaly and dysmorphic facies phenio_relaxed_subqs.owl MONDO:0032943 biolink:NamedThing neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies phenio_relaxed_subqs.owl MONDO:0033562 biolink:NamedThing neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia phenio_relaxed_subqs.owl MONDO:0033630 biolink:NamedThing neurodevelopmental disorder with speech impairment and dysmorphic facies phenio_relaxed_subqs.owl MONDO:0033642 biolink:NamedThing neurodevelopmental disorder with alopecia and brain abnormalities phenio_relaxed_subqs.owl MONDO:0033658 biolink:NamedThing neurodevelopmental disorder with seizures and brain atrophy phenio_relaxed_subqs.owl MONDO:0033662 biolink:NamedThing neurodevelopmental disorder with microcephaly, seizures, and brain atrophy phenio_relaxed_subqs.owl MONDO:0033864 biolink:NamedThing infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome phenio_relaxed_subqs.owl MONDO:0034099 biolink:NamedThing SYNGAP1-related developmental and epileptic encephalopathy A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD). phenio_relaxed_subqs.owl MONDO:0035133 biolink:NamedThing PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome phenio_relaxed_subqs.owl MONDO:0035383 biolink:NamedThing FOXG1 syndrome A rare genetic neurological disorder characterized by early onset of microcephaly, severe global developmental delay and cognitive impairment, dyskinesia and hyperkinetic movements, visual impairment, autistic behavior, stereotypies, sleep disturbance, epilepsy, and cerebral malformations (such as corpus callosum hypogenesis, forebrain anomaly, and delayed myelination). Speech is minimal or absent, and ambulation is not attained. Patients with a larger 14q12 microdeletion show a more severe phenotype than those with intragenic alterations, with the addition of facial dysmorphism and agenesis of the corpus callosum. phenio_relaxed_subqs.owl MONDO:0035774 biolink:NamedThing NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behavior and stereotypic movements are common. phenio_relaxed_subqs.owl MONDO:0043007 biolink:NamedThing genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome An instance of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0043099 biolink:NamedThing Hordnes Engebretsen Knudtson syndrome phenio_relaxed_subqs.owl MONDO:0044641 biolink:NamedThing 9q33.3q34.11 microdeletion syndrome phenio_relaxed_subqs.owl MONDO:0044699 biolink:NamedThing SIN3A-related intellectual disability syndrome phenio_relaxed_subqs.owl MONDO:0044807 biolink:NamedThing inherited dystonia An instance of dystonic disorder that is caused by an inherited modification of the individual's genome. phenio_relaxed_subqs.owl MONDO:0060491 biolink:NamedThing neurodevelopmental disorder with involuntary movements phenio_relaxed_subqs.owl MONDO:0060629 biolink:NamedThing neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive phenio_relaxed_subqs.owl MONDO:0060640 biolink:NamedThing neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy phenio_relaxed_subqs.owl MONDO:0060641 biolink:NamedThing neurodevelopmental disorder with or without seizures and gait abnormalities phenio_relaxed_subqs.owl MONDO:0060642 biolink:NamedThing neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features phenio_relaxed_subqs.owl MONDO:0060659 biolink:NamedThing neurodevelopmental disorder with poor language and loss of hand skills phenio_relaxed_subqs.owl MONDO:0060664 biolink:NamedThing neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities phenio_relaxed_subqs.owl MONDO:0060704 biolink:NamedThing neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures phenio_relaxed_subqs.owl MONDO:0060752 biolink:NamedThing neurodevelopmental disorder with spasticity and poor growth phenio_relaxed_subqs.owl MONDO:0060760 biolink:NamedThing intellectual developmental disorder with dysmorphic facies and behavioral abnormalities phenio_relaxed_subqs.owl MONDO:0060761 biolink:NamedThing neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum phenio_relaxed_subqs.owl MONDO:0060763 biolink:NamedThing intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities Any BAFopathy in which the cause of the disease is a mutation in the BCL11B gene. phenio_relaxed_subqs.owl MONDO:0100034 biolink:NamedThing cerebral folate deficiency Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system. phenio_relaxed_subqs.owl MONDO:0100147 biolink:NamedThing SATB2 associated disorder A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies. phenio_relaxed_subqs.owl MONDO:0100214 biolink:NamedThing Rajab interstitial lung disease with brain calcifications phenio_relaxed_subqs.owl MONDO:0100309 biolink:NamedThing hereditary ataxia An instance of an atactic disorder that is caused by an inherited genomic modification in an individual. phenio_relaxed_subqs.owl MONDO:0100348 biolink:NamedThing neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems. phenio_relaxed_subqs.owl MONDO:0100446 biolink:NamedThing CNGB3-related retinopathy A retinopathy caused by biallelic variants in the CNGB3 gene. phenio_relaxed_subqs.owl MONDO:0100485 biolink:NamedThing KCNH1 associated disorder Any neurodevelopmental disorder in which the cause of the disease is a mutation in the KCNH1 gene. Variants in KCNH1 cause significant neurodevelopmental disabilities that lie along a phenotypic spectrum ranging from non-syndromic to syndromic. The most common phenotypes associated with variants in KCNH1 include intellectual disability, seizures, hypotonia, absence or hypoplasia of nails, and gingival enlargement. Hypoplastic terminal phalanges of fingers and toes, proximal placement and long thumb, and long toes present less frequently. phenio_relaxed_subqs.owl MONDO:0700002 biolink:NamedThing ATP1A3-associated neurological disorder Any neurological disorder in which the cause of the disease is a mutation in the ATP1A3. phenio_relaxed_subqs.owl ORPHA:71859 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205654 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:73224 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205736 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008596 biolink:NamedThing trichorhinophalangeal syndrome type I An autosomal dominant malformation syndrome caused by mutations in TRPS1 characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature. phenio_relaxed_subqs.owl ORPHA:77258 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205748 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:77300 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205768 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79076 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205772 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN536246 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012599 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79085 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205776 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_230379007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79093 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205780 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717276003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79097 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205782 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79099 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205794 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79127 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205796 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79129 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205797 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79132 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205834 biolink:NamedThing phenio_relaxed_subqs.owl DOID:9455 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_272.7 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D008064 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_10741005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79204 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205839 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019253 biolink:NamedThing metabolic disease involving other neurotransmitter deficiency phenio_relaxed_subqs.owl ORPHA:79219 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205842 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019257 biolink:NamedThing hemochromatosis type 2 Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin. phenio_relaxed_subqs.owl DOID:0111034 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010092 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C537247 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011216 biolink:NamedThing hemochromatosis type 2A Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HJV gene. phenio_relaxed_subqs.owl OBO:SCTID_50855007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79230 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205878 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010184 biolink:NamedThing methylmalonic aciduria and homocystinuria type cblC A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner. phenio_relaxed_subqs.owl DOID:0050715 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012128 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C142174 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:277400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_74653006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79282 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205879 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010185 biolink:NamedThing methylmalonic aciduria and homocystinuria type cblD A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations. phenio_relaxed_subqs.owl DOID:0050716 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003582 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564743 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:277410 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_31220004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79283 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205883 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009515 biolink:NamedThing Norum disease Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme. phenio_relaxed_subqs.owl DOID:1391 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004011 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84813 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:245900 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238091006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79293 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205889 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070222 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001288 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:601847 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79304 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205891 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0070226 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009802 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:211600 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79306 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205894 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_237946002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79312 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205951 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019310 biolink:NamedThing recessive dystrophic epidermolysis bullosa inversa Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area. phenio_relaxed_subqs.owl ORPHA:79409 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN205995 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019332 biolink:NamedThing punctate palmoplantar keratoderma type 1 Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients.. phenio_relaxed_subqs.owl OBO:GARD_0003103 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717184007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79501 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206002 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019333 biolink:NamedThing autosomal recessive hyperinsulinism due to SUR1 deficiency phenio_relaxed_subqs.owl ORPHA:79643 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79644 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206012 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005100 biolink:NamedThing systemic sclerosis A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension. phenio_relaxed_subqs.owl DOID:418 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009748 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_710.1 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D012595 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0005019 biolink:NamedThing diffuse scleroderma A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement. phenio_relaxed_subqs.owl MONDO:0016356 biolink:NamedThing diffuse cutaneous systemic sclerosis Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement). phenio_relaxed_subqs.owl MONDO:0016358 biolink:NamedThing limited cutaneous systemic sclerosis Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms. phenio_relaxed_subqs.owl NCIT:C72070 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_89155008 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0000717 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90291 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206047 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050481 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_D014437 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C84688 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:83315 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206066 biolink:NamedThing phenio_relaxed_subqs.owl DOID:2012 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0007201 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536288 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:242700 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_55602000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:83471 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206118 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012036 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_723306004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:85162 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206182 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019426 biolink:NamedThing X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome is characterised by intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive. phenio_relaxed_subqs.owl OBO:GARD_0012489 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:85330 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206185 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718849008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:85334 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206187 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718847005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:85336 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206197 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019440 biolink:NamedThing wild type ABeta2M amyloidosis phenio_relaxed_subqs.owl OBO:GARD_0010563 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_32599008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:85446 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206233 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090016 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0008723 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535323 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C6867 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:153550 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_277597005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:86841 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206272 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:86918 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206304 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:88637 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206330 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019518 biolink:NamedThing Waardenburg-Shah syndrome Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease. phenio_relaxed_subqs.owl OBO:GARD_0005524 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010192 biolink:NamedThing Waardenburg syndrome type 4A A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB. phenio_relaxed_subqs.owl NCIT:C124842 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:897 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206337 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019522 biolink:NamedThing recessive dystrophic epidermolysis bullosa-generalized other Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities. phenio_relaxed_subqs.owl OBO:GARD_0012794 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:89842 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206376 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012436 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90114 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206378 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019549 biolink:NamedThing severe early-onset axonal neuropathy due to MFN2 deficiency Severe early-onset axonal neuropathy due to MFN2 deficiency is a rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop. phenio_relaxed_subqs.owl OBO:SCTID_766977007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90118 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206379 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019550 biolink:NamedThing hereditary motor and sensory neuropathy with acrodystrophy Hereditary motor and sensory neuropathy with acrodystrophy is a rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999. phenio_relaxed_subqs.owl ORPHA:90119 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206381 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN236772 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003374 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535705 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C123417 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:248370 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_109419009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90153 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206443 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019597 biolink:NamedThing 46,XY disorder of sex development due to isolated 17,20-lyase deficiency 46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels. phenio_relaxed_subqs.owl ORPHA:90796 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206449 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016454 biolink:NamedThing severe early-onset axonal neuropathy due to NEFL deficiency Charcot-Marie-Tooth disease type 2B5 is a rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities. phenio_relaxed_subqs.owl MONDO:0018507 biolink:NamedThing microcephaly-complex motor and sensory axonal neuropathy syndrome Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis. phenio_relaxed_subqs.owl MONDO:0034041 biolink:NamedThing congenital axonal neuropathy with encephalopathy A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia. phenio_relaxed_subqs.owl MONDO:0044640 biolink:NamedThing charcot-marie-tooth disease type 2T phenio_relaxed_subqs.owl ORPHA:91024 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206461 biolink:NamedThing phenio_relaxed_subqs.owl DOID:5577 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C3050 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206502 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019634 biolink:NamedThing familial nasal acilia Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions. phenio_relaxed_subqs.owl OBO:GARD_0002254 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763532008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:922 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206521 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019649 biolink:NamedThing idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis phenio_relaxed_subqs.owl ORPHA:93206 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206522 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019650 biolink:NamedThing idiopathic steroid-sensitive nephrotic syndrome with minimal change phenio_relaxed_subqs.owl ORPHA:93207 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206523 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019651 biolink:NamedThing idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation phenio_relaxed_subqs.owl ORPHA:93209 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206525 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93214 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206526 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93216 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206527 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93217 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206528 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93218 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206529 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93220 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206533 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93258 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206534 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93259 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206535 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93260 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206633 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93554 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206634 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93555 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206638 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93560 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206639 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93561 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206640 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93562 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206650 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93579 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206652 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93581 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206684 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93682 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206692 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93926 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206696 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019761 biolink:NamedThing laryngotracheoesophageal cleft type 1 Laryngo-tracheo-esophageal cleft (LC) type 1 is a congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms. phenio_relaxed_subqs.owl ORPHA:93938 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206697 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019762 biolink:NamedThing laryngotracheoesophageal cleft type 2 Laryngo-tracheo-esophageal cleft (LC) type 2 is a congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections. phenio_relaxed_subqs.owl ORPHA:93939 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206698 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019763 biolink:NamedThing laryngotracheoesophageal cleft type 3 Laryngo-tracheo-esophageal cleft (LC) type 3 is a congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage. phenio_relaxed_subqs.owl ORPHA:93940 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206699 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019764 biolink:NamedThing laryngotracheoesophageal cleft type 4 Laryngo-tracheo-esophageal cleft (LC) type 4 is a serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress. phenio_relaxed_subqs.owl ORPHA:93941 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206743 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0008816 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:94125 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206744 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019792 biolink:NamedThing autosomal dominant cerebellar ataxia type I Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement. phenio_relaxed_subqs.owl MONDO:0011819 biolink:NamedThing spinocerebellar ataxia type 19/22 Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor. phenio_relaxed_subqs.owl MONDO:0033481 biolink:NamedThing spinocerebellar ataxia 46 phenio_relaxed_subqs.owl MONDO:0035117 biolink:NamedThing PUM1-associated developmental disability-ataxia-seizure syndrome phenio_relaxed_subqs.owl ORPHA:94145 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206746 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019793 biolink:NamedThing autosomal dominant cerebellar ataxia type III Autosomal dominant cerebellar ataxia (ACDA) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31. phenio_relaxed_subqs.owl MONDO:0033480 biolink:NamedThing spinocerebellar ataxia 45 phenio_relaxed_subqs.owl ORPHA:94148 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206759 biolink:NamedThing phenio_relaxed_subqs.owl DOID:4028 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010391 biolink:NamedThing angioma serpiginosum, X-linked phenio_relaxed_subqs.owl NCIT:C3926 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_49465005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:95429 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206780 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019833 biolink:NamedThing pituitary hormone deficiency from tumoral origin phenio_relaxed_subqs.owl MONDO:0019614 biolink:NamedThing pituitary deficiency due to Rathke's pouch cysts phenio_relaxed_subqs.owl ORPHA:95503 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206787 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019843 biolink:NamedThing pituitary hormone deficiency secondary to a granulomatous disease phenio_relaxed_subqs.owl ORPHA:95617 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206788 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019844 biolink:NamedThing pituitary hormone deficiency secondary to storage disease phenio_relaxed_subqs.owl MONDO:0019402 biolink:NamedThing beta thalassemia Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb). phenio_relaxed_subqs.owl ORPHA:95618 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206803 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060747 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009182 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607323 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_699867001 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_720415006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:93293 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:959 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206810 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:96076 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206812 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718188007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:96092 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206814 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:96095 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206841 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:96182 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206842 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:96193 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206847 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019930 biolink:NamedThing Leydig cell hypoplasia due to complete LH resistance phenio_relaxed_subqs.owl ORPHA:96265 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206848 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019931 biolink:NamedThing Leydig cell hypoplasia due to partial LH resistance phenio_relaxed_subqs.owl ORPHA:96266 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206877 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019955 biolink:NamedThing GRFoma 6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1). phenio_relaxed_subqs.owl ORPHA:97261 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206887 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ONCOTREE_TNET biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:97289 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206907 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019976 biolink:NamedThing dementia pugilistica Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from diffuse axonal injury; intracranial hemorrhages; brain edema; and other conditions. Clinical features may include dementia; focal neurologic deficits; persistent vegetative state; akinetic mutism; or coma. phenio_relaxed_subqs.owl OBO:MESH_D020208 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_230283005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:97353 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206908 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019977 biolink:NamedThing parkinsonism with dementia of Guadeloupe Parkinsonism with dementia of Guadeloupe is characterised by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction. phenio_relaxed_subqs.owl OBO:SCTID_715737004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:97355 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206920 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:97555 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN206941 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020007 biolink:NamedThing absence of the pulmonary artery Unilateral absence of the pulmonary artery (UAPA) is a rare congenital great vessels anomaly that commonly presents by dyspnea, frequent respiratory infections, hemoptysis and high-altitude pulmonary edema. UAPA is often associated with congenital heart malformation (CHM). In the absence of associated cardiac malformation (isolated UAPA; IUAPA), the condition may be asymptomatic until adult age. phenio_relaxed_subqs.owl ORPHA:980 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207046 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011334 biolink:NamedThing limb-mammary syndrome Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias. phenio_relaxed_subqs.owl ORPHA:98609 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207069 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111441 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009890 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:165500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717336005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98673 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207093 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98754 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207115 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98793 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207116 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98794 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207117 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98795 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207122 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0090043 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0012144 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:128230 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_715768000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98808 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207194 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C116926 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98916 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207195 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C116927 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716722005 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98917 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207200 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98933 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207218 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020363 biolink:NamedThing honey-droplet corneal dystrophy phenio_relaxed_subqs.owl ORPHA:98958 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207270 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020389 biolink:NamedThing pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome phenio_relaxed_subqs.owl ORPHA:99048 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207336 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99413 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207337 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0010597 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD10CM_E34.51 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C120191 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_368851000119102 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99429 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207344 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99688 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207386 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99818 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207389 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020499 biolink:NamedThing Nipah virus disease Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness. phenio_relaxed_subqs.owl DOID:0050192 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99825 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207394 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020503 biolink:NamedThing resistance to thyrotropin-releasing hormone syndrome Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth. phenio_relaxed_subqs.owl OBO:SCTID_725462002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99832 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207418 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99875 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207422 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C94830 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99879 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207427 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060890 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99889 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207429 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99893 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207439 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99912 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207444 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99917 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207466 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0110158 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0009197 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:607677 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_717013009 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99942 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207495 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99989 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN207497 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020571 biolink:NamedThing relapsing epidemic typhus phenio_relaxed_subqs.owl ORPHA:99991 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN220387 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080099 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0003885 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536101 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_600462 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_724138007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2598 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN221577 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0002108 biolink:NamedThing thyroid cancer A malignant neoplasm involving the thyroid gland phenio_relaxed_subqs.owl DOID:1781 biolink:NamedThing phenio_relaxed_subqs.owl OBO:ICD9_193 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C7510 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_363478007 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN225932 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018082 biolink:NamedThing aorto-ventricular tunnel Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle. phenio_relaxed_subqs.owl MONDO:0020410 biolink:NamedThing aorto-right ventricular tunnel phenio_relaxed_subqs.owl MONDO:0020411 biolink:NamedThing aorto-left ventricular tunnel phenio_relaxed_subqs.owl ORPHA:3400 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN225973 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000500 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535654 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:102100 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:964 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226080 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:397922 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226094 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018355 biolink:NamedThing SIM1-related Prader-Willi-like syndrome phenio_relaxed_subqs.owl ORPHA:398073 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226095 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:398079 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226098 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:398097 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226121 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018416 biolink:NamedThing autosomal recessive spastic paraplegia type 59 phenio_relaxed_subqs.owl ORPHA:401795 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226122 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018417 biolink:NamedThing autosomal recessive spastic paraplegia type 60 phenio_relaxed_subqs.owl ORPHA:401800 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226125 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018418 biolink:NamedThing autosomal recessive spastic paraplegia type 66 phenio_relaxed_subqs.owl ORPHA:401815 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226126 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018419 biolink:NamedThing autosomal recessive spastic paraplegia type 67 Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities. phenio_relaxed_subqs.owl OBO:SCTID_766767001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:401820 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226127 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018420 biolink:NamedThing autosomal recessive spastic paraplegia type 68 phenio_relaxed_subqs.owl ORPHA:401825 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226128 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018421 biolink:NamedThing autosomal recessive spastic paraplegia type 69 phenio_relaxed_subqs.owl ORPHA:401830 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226129 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018422 biolink:NamedThing autosomal recessive spastic paraplegia type 70 Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities. phenio_relaxed_subqs.owl ORPHA:401835 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226130 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018423 biolink:NamedThing autosomal recessive spastic paraplegia type 71 phenio_relaxed_subqs.owl ORPHA:401840 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226138 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:401901 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226139 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:401911 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226150 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:401993 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226190 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:618272 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:404476 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226195 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018450 biolink:NamedThing spinal muscular atrophy with respiratory distress type 2 Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene. phenio_relaxed_subqs.owl ORPHA:404521 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226593 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015091 biolink:NamedThing autosomal dominant spastic paraplegia type 9 Any autosomal dominant complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene. phenio_relaxed_subqs.owl ORPHA:100979 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226594 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100980 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226653 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015295 biolink:NamedThing intractable diarrhea-choanal atresia-eye anomalies syndrome Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously. phenio_relaxed_subqs.owl ORPHA:137622 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226671 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015389 biolink:NamedThing supernumerary nostril Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face. phenio_relaxed_subqs.owl OBO:SCTID_719163006 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:141096 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226705 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019559 biolink:NamedThing hypertrophic or verrucous lupus erythematosus phenio_relaxed_subqs.owl ORPHA:163531 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226711 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015601 biolink:NamedThing X-linked intellectual disability, van Esch type X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism. phenio_relaxed_subqs.owl OMIM:301030 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_718914002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:163976 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226738 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015777 biolink:NamedThing adult hypothyroidism A hypothyroidism that occurs in an adult. phenio_relaxed_subqs.owl ORPHA:177101 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226739 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016521 biolink:NamedThing muscular pseudohypertrophy-hypothyroidism syndrome Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism. phenio_relaxed_subqs.owl MONDO:0019506 biolink:NamedThing obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. phenio_relaxed_subqs.owl MONDO:0022900 biolink:NamedThing athyreotic congenital hypothyroidism Congenital hypothyroidism in which fetal deficiency was severe because of complete absence (athyreosis) of the gland. Physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia) phenio_relaxed_subqs.owl MONDO:0023558 biolink:NamedThing Kocher-debre-Semelaigne syndrome phenio_relaxed_subqs.owl ORPHA:177107 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226754 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C536821 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:113670 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:180176 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226880 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016209 biolink:NamedThing benign familial nocturnal alternating hemiplegia of childhood Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities. phenio_relaxed_subqs.owl ORPHA:209973 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226939 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C26931 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:229720 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226952 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060858 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C564710 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:606407 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_721173005 biolink:NamedThing phenio_relaxed_subqs.owl EFO:0007550 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:163690 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:238517 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226956 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016554 biolink:NamedThing neonatal iodine exposure Neonatal iodine exposure is a rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid funtion in term neonates. phenio_relaxed_subqs.owl OBO:GARD_0003025 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:238688 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226961 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016562 biolink:NamedThing progressive supranuclear palsy-pure akinesia with gait freezing syndrome PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. phenio_relaxed_subqs.owl ORPHA:240094 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226962 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016564 biolink:NamedThing progressive supranuclear palsy-progressive non-fluent aphasia syndrome PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP. phenio_relaxed_subqs.owl ORPHA:240112 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226963 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008872 biolink:NamedThing microcephalic osteodysplastic primordial dwarfism type II A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease. phenio_relaxed_subqs.owl MONDO:0010665 biolink:NamedThing Wilson-Turner syndrome Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature. phenio_relaxed_subqs.owl ORPHA:240371 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN226999 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:254746 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:254749 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227001 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016800 biolink:NamedThing mitochondrial membrane transport disorder phenio_relaxed_subqs.owl MONDO:0016801 biolink:NamedThing mitochondrial substrate carrier disorder phenio_relaxed_subqs.owl MONDO:0016802 biolink:NamedThing mitochondrial protein import disorder phenio_relaxed_subqs.owl ORPHA:254827 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:254830 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227003 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:254834 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227004 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016803 biolink:NamedThing unspecified inborn mitochondrial disorder phenio_relaxed_subqs.owl MONDO:0044652 biolink:NamedThing optic atrophy-peripheral neuropathy-developmental delay syndrome phenio_relaxed_subqs.owl ORPHA:254837 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227005 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0100294 biolink:NamedThing mitochondrial complex II deficiency, nuclear type 1 Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers. phenio_relaxed_subqs.owl ORPHA:254846 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227089 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000110 biolink:NamedThing bifid nose Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated. phenio_relaxed_subqs.owl OBO:GARD_0000884 biolink:NamedThing phenio_relaxed_subqs.owl OBO:MESH_C535441 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:2695 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227096 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:271861 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227107 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN239338 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_74162007 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:284385 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227111 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017305 biolink:NamedThing syndromic oculocutaneous albinism A oculocutaneous albinism that is part of a larger syndrome. phenio_relaxed_subqs.owl MONDO:0009767 biolink:NamedThing oculocerebral hypopigmentation syndrome, Cross type Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia. phenio_relaxed_subqs.owl ORPHA:284811 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227112 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:284993 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227114 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017313 biolink:NamedThing disorder of folate metabolism and transport phenio_relaxed_subqs.owl MONDO:0009353 biolink:NamedThing homocystinuria due to methylene tetrahydrofolate reductase deficiency Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations. phenio_relaxed_subqs.owl MONDO:0013456 biolink:NamedThing constitutional megaloblastic anemia with severe neurologic disease phenio_relaxed_subqs.owl ORPHA:285657 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227116 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017330 biolink:NamedThing malignancy diagnosed during pregnancy phenio_relaxed_subqs.owl ORPHA:289385 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227118 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:289866 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227150 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017578 biolink:NamedThing disorder of thiamine metabolism and transport phenio_relaxed_subqs.owl MONDO:0000152 biolink:NamedThing thiamine-responsive dysfunction syndrome phenio_relaxed_subqs.owl ORPHA:298644 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227163 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017625 biolink:NamedThing familial primary hypomagnesemia with hypocalcuria phenio_relaxed_subqs.owl OBO:SCTID_711151004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:306519 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227164 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017626 biolink:NamedThing familial primary hypomagnesemia with normocalcuria Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type. phenio_relaxed_subqs.owl ORPHA:306522 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227176 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011236 biolink:NamedThing hyperinsulinism due to glucokinase deficiency Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism, caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. phenio_relaxed_subqs.owl ORPHA:308459 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227177 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017703 biolink:NamedThing disorder of glyoxylate metabolism phenio_relaxed_subqs.owl MONDO:0100278 biolink:NamedThing alanine glyoxylate aminotransferase deficiency Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene. phenio_relaxed_subqs.owl ORPHA:308998 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227180 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017706 biolink:NamedThing disorder of carbohydrate absorption and transport phenio_relaxed_subqs.owl MONDO:0009115 biolink:NamedThing congenital lactase deficiency Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula. phenio_relaxed_subqs.owl ORPHA:309001 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227181 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309028 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227183 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017713 biolink:NamedThing disorder of fatty acid oxidation and ketogenesis phenio_relaxed_subqs.owl MONDO:0017715 biolink:NamedThing 3-hydroxyacyl-CoA dehydrogenase deficiency phenio_relaxed_subqs.owl ORPHA:309115 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227184 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017716 biolink:NamedThing disorder of carnitine cycle and carnitine transport phenio_relaxed_subqs.owl ORPHA:309130 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227186 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309340 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227187 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011257 biolink:NamedThing MPI-CDG MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1). phenio_relaxed_subqs.owl ORPHA:309347 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227188 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0016155 biolink:NamedThing qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan phenio_relaxed_subqs.owl MONDO:0017742 biolink:NamedThing disorder of O-xylosylglycan synthesis phenio_relaxed_subqs.owl MONDO:0017743 biolink:NamedThing disorder of O-N-acetylgalactosaminylglycan synthesis phenio_relaxed_subqs.owl MONDO:0017744 biolink:NamedThing disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis phenio_relaxed_subqs.owl MONDO:0017745 biolink:NamedThing disorder of O-mannosylglycan synthesis phenio_relaxed_subqs.owl MONDO:0017747 biolink:NamedThing disorder of fucoglycosan synthesis phenio_relaxed_subqs.owl ORPHA:309447 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227189 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007738 biolink:NamedThing spondyloepiphyseal dysplasia with congenital joint dislocations CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal. phenio_relaxed_subqs.owl MONDO:0009511 biolink:NamedThing Larsen-like syndrome, B3GAT3 type Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported. phenio_relaxed_subqs.owl ORPHA:309450 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227190 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309458 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227191 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309463 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227192 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309469 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227193 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008371 biolink:NamedThing Dowling-Degos disease A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. phenio_relaxed_subqs.owl ORPHA:309505 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227194 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309515 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227195 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009134 biolink:NamedThing congenital dyserythropoietic anemia type 2 Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones. phenio_relaxed_subqs.owl MONDO:0014789 biolink:NamedThing CCDC115-CDG phenio_relaxed_subqs.owl MONDO:0017750 biolink:NamedThing defect in conserved oligomeric Golgi complex phenio_relaxed_subqs.owl MONDO:0017752 biolink:NamedThing defect in V-ATPase phenio_relaxed_subqs.owl ORPHA:309526 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227200 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309816 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227201 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017756 biolink:NamedThing disorder of pterin metabolism phenio_relaxed_subqs.owl ORPHA:309819 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227202 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017758 biolink:NamedThing disorder of vitamin and non-protein cofactor absorption and transport phenio_relaxed_subqs.owl MONDO:0017761 biolink:NamedThing disorder of mineral absorption and transport phenio_relaxed_subqs.owl ORPHA:309824 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227203 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017760 biolink:NamedThing disorder of other vitamins and cofactors metabolism and transport phenio_relaxed_subqs.owl ORPHA:309827 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227204 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007272 biolink:NamedThing hereditary hypercarotenemia and vitamin A deficiency Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date. phenio_relaxed_subqs.owl MONDO:0014013 biolink:NamedThing maternal riboflavin deficiency phenio_relaxed_subqs.owl ORPHA:309833 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227205 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017763 biolink:NamedThing disorder of iron metabolism and transport phenio_relaxed_subqs.owl MONDO:0017764 biolink:NamedThing disorder of zinc metabolism phenio_relaxed_subqs.owl MONDO:0017766 biolink:NamedThing disorder of manganese transport phenio_relaxed_subqs.owl ORPHA:309836 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227206 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008787 biolink:NamedThing microcytic anemia with liver iron overload Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients. phenio_relaxed_subqs.owl MONDO:0011426 biolink:NamedThing aceruloplasminemia Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms. phenio_relaxed_subqs.owl ORPHA:309842 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227207 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309848 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227208 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:309851 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227212 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:31827 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227219 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017913 biolink:NamedThing pure or complex hereditary spastic paraplegia phenio_relaxed_subqs.owl MONDO:0017914 biolink:NamedThing pure or complex autosomal dominant spastic paraplegia phenio_relaxed_subqs.owl MONDO:0017915 biolink:NamedThing pure or complex autosomal recessive spastic paraplegia phenio_relaxed_subqs.owl MONDO:0017916 biolink:NamedThing pure or complex X-linked spastic paraplegia phenio_relaxed_subqs.owl ORPHA:320335 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227225 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:325055 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227226 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017962 biolink:NamedThing 46,XX disorder of sex development induced by fetoplacental androgens excess phenio_relaxed_subqs.owl ORPHA:325061 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227227 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017963 biolink:NamedThing 46,XX disorder of sex development induced by endogenous maternal-derived androgen phenio_relaxed_subqs.owl ORPHA:325093 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227228 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017964 biolink:NamedThing 46,XX disorder of sex development induced by exogenous maternal-derived androgen phenio_relaxed_subqs.owl ORPHA:325099 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227229 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017967 biolink:NamedThing testicular agenesis phenio_relaxed_subqs.owl MONDO:0017968 biolink:NamedThing 46,XY ovotesticular disorder of sex development 46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated. phenio_relaxed_subqs.owl ORPHA:325118 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227231 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_763683004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:325345 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227232 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017974 biolink:NamedThing 46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors phenio_relaxed_subqs.owl ORPHA:325351 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227235 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:325537 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227261 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018093 biolink:NamedThing arbovirus fever Arbovirosis are polymorphic diseases caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed. phenio_relaxed_subqs.owl OBO:GARD_0000432 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:344 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227264 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018213 biolink:NamedThing hereditary sensory and autonomic neuropathy type 1 Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset. phenio_relaxed_subqs.owl ORPHA:352301 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227269 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0017304 biolink:NamedThing ocular albinism Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity. phenio_relaxed_subqs.owl ORPHA:352728 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227274 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0035004 biolink:NamedThing serine biosynthesis pathway deficiency, infantile/juvenile form phenio_relaxed_subqs.owl ORPHA:35705 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227277 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:35889 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227320 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:391381 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227537 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:43117 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227538 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:43119 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227546 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018851 biolink:NamedThing familial keratoacanthoma Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant. phenio_relaxed_subqs.owl OBO:SCTID_716774008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:493 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227586 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019219 biolink:NamedThing inborn disorder of neurotransmitter metabolism and transport phenio_relaxed_subqs.owl ORPHA:79169 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227588 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000456 biolink:NamedThing cerebral creatine deficiency syndrome Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency. phenio_relaxed_subqs.owl DOID:0050798 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_300352 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79172 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227589 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0004737 biolink:NamedThing homocystinuria An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems. phenio_relaxed_subqs.owl OBO:SCTID_28882002 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79173 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227590 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019223 biolink:NamedThing inborn disorder of fatty acid oxidation and ketone body metabolism phenio_relaxed_subqs.owl MONDO:0018579 biolink:NamedThing disorder of ketone body transport phenio_relaxed_subqs.owl ORPHA:79174 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227591 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000698 biolink:NamedThing gamma-amino butyric acid metabolism disorder An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. phenio_relaxed_subqs.owl ORPHA:79175 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227592 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79177 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227593 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011731 biolink:NamedThing glucose-galactose malabsorption Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period. phenio_relaxed_subqs.owl ORPHA:79178 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227594 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009492 biolink:NamedThing succinyl-CoA:3-ketoacid CoA transferase deficiency Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis. phenio_relaxed_subqs.owl ORPHA:79183 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227595 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79185 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227596 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019231 biolink:NamedThing inborn disorder of pentose phosphate metabolism phenio_relaxed_subqs.owl ORPHA:79186 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227597 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79187 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227598 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019233 biolink:NamedThing disorder of peroxisomal beta oxidation phenio_relaxed_subqs.owl OBO:GARD_0012470 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0100112 biolink:NamedThing acyl-CoA binding domain containing protein 5 deficiency A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay. phenio_relaxed_subqs.owl ORPHA:79188 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227599 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79190 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227600 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79192 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227601 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79194 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227602 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79195 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227604 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79200 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227605 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79207 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227606 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79214 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227607 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79226 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227611 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:79367 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227640 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_722051004 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:88643 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227649 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_403661001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90157 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227650 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90158 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227651 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90159 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227652 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_238898001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90160 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227653 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:90282 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227655 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019593 biolink:NamedThing 46,XX disorder of sex development induced by fetal androgens excess phenio_relaxed_subqs.owl ORPHA:90776 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227662 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0019608 biolink:NamedThing 46,XX disorder of sex development induced by maternal-derived androgen phenio_relaxed_subqs.owl ORPHA:91144 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227738 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98078 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227743 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0020049 biolink:NamedThing autosomal anomaly A chromosomal anomaly that involves an autosome. phenio_relaxed_subqs.owl MONDO:0020051 biolink:NamedThing total autosomal trisomy phenio_relaxed_subqs.owl MONDO:0020052 biolink:NamedThing partial autosomal trisomy/tetrasomy phenio_relaxed_subqs.owl MONDO:0020583 biolink:NamedThing chromosome 17 disorder Chromosomal disorder in which chromosome 17 is affected. phenio_relaxed_subqs.owl MONDO:0700008 biolink:NamedThing chromosome 1 disorder Chromosomal disorder in which chromosome 1 is affected. phenio_relaxed_subqs.owl MONDO:0700009 biolink:NamedThing chromosome 2 disorder Chromosomal disorder in which chromosome 2 is affected. phenio_relaxed_subqs.owl MONDO:0700010 biolink:NamedThing chromosome 3 disorder Chromosomal disorder in which chromosome 3 is affected. phenio_relaxed_subqs.owl MONDO:0700011 biolink:NamedThing chromosome 4 disorder Chromosomal disorder in which chromosome 4 is affected. phenio_relaxed_subqs.owl MONDO:0700012 biolink:NamedThing chromosome 5 disorder Chromosomal disorder in which chromosome 5 is affected. phenio_relaxed_subqs.owl MONDO:0700013 biolink:NamedThing chromosome 6 disorder Chromosomal disorder in which chromosome 6 is affected. phenio_relaxed_subqs.owl MONDO:0700014 biolink:NamedThing chromosome 7 disorder Chromosomal disorder in which chromosome 7 is affected. phenio_relaxed_subqs.owl MONDO:0700016 biolink:NamedThing chromosome 9 disorder Chromosomal disorder in which chromosome 9 is affected. phenio_relaxed_subqs.owl MONDO:0700017 biolink:NamedThing chromosome 10 disorder Chromosomal disorder in which chromosome 10 is affected. phenio_relaxed_subqs.owl MONDO:0700018 biolink:NamedThing chromosome 11 disorder Chromosomal disorder in which chromosome 11 is affected. phenio_relaxed_subqs.owl MONDO:0700019 biolink:NamedThing chromosome 12 disorder Chromosomal disorder in which chromosome 12 is affected. phenio_relaxed_subqs.owl MONDO:0700020 biolink:NamedThing chromosome 13 disorder Chromosomal disorder in which chromosome 13 is affected. phenio_relaxed_subqs.owl MONDO:0700021 biolink:NamedThing chromosome 14 disorder Chromosomal disorder in which chromosome 14 is affected. phenio_relaxed_subqs.owl MONDO:0700022 biolink:NamedThing chromosome 15 disorder Chromosomal disorder in which chromosome 15 is affected. phenio_relaxed_subqs.owl MONDO:0700023 biolink:NamedThing chromosome 16 disorder Chromosomal disorder in which chromosome 16 is affected. phenio_relaxed_subqs.owl MONDO:0700024 biolink:NamedThing chromosome 19 disorder Chromosomal disorder in which chromosome 19 is affected. phenio_relaxed_subqs.owl MONDO:0700025 biolink:NamedThing chromosome 20 disorder Chromosomal disorder in which chromosome 20 is affected. phenio_relaxed_subqs.owl MONDO:0700026 biolink:NamedThing chromosome 22 disorder Chromosomal disorder in which chromosome 22 is affected. phenio_relaxed_subqs.owl MONDO:0700124 biolink:NamedThing chromosome 21 disorder Chromosomal disorder in which chromosome 21 is affected. phenio_relaxed_subqs.owl MONDO:0700125 biolink:NamedThing chromosome 18 disorder Chromosomal disorder in which chromosome 18 is affected. phenio_relaxed_subqs.owl ORPHA:98127 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN227858 biolink:NamedThing phenio_relaxed_subqs.owl DOID:1441 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0004346 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0000561 biolink:NamedThing spinocerebellar ataxia type 16 An autosomal recessive form of spinocerebellar ataxia caused by mutation(s) in the STUB1 gene, encoding E3 ubiquitin-protein ligase CHIP. phenio_relaxed_subqs.owl MONDO:0000563 biolink:NamedThing GRID2-related autosomal dominant spinocerebellar ataxia phenio_relaxed_subqs.owl MONDO:0016163 biolink:NamedThing autosomal dominant cerebellar ataxia type II phenio_relaxed_subqs.owl MONDO:0019794 biolink:NamedThing autosomal dominant cerebellar ataxia type IV phenio_relaxed_subqs.owl MONDO:0032526 biolink:NamedThing spinocerebellar ataxia 48 phenio_relaxed_subqs.owl MONDO:0033479 biolink:NamedThing spinocerebellar ataxia 44 phenio_relaxed_subqs.owl MONDO:0033482 biolink:NamedThing spinocerebellar ataxia 47 phenio_relaxed_subqs.owl OBO:OMIMPS_164400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_129609000 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:99 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN228266 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_614328 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:294023 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN228599 biolink:NamedThing phenio_relaxed_subqs.owl OBO:OMIMPS_613573 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:247820 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN228621 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012518 biolink:NamedThing congenital myasthenic syndrome 12 Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene. phenio_relaxed_subqs.owl OBO:OMIMPS_610542 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN228909 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012639 biolink:NamedThing hereditary spastic paraplegia 18 A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2. phenio_relaxed_subqs.owl MONDO:0014567 biolink:NamedThing glutamate pyruvate transaminase 2 deficiency phenio_relaxed_subqs.owl MONDO:0018550 biolink:NamedThing spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder phenio_relaxed_subqs.owl MONDO:0044648 biolink:NamedThing kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome phenio_relaxed_subqs.owl ORPHA:100981 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN228910 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:100982 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN228926 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008392 biolink:NamedThing Roussy-Levy syndrome phenio_relaxed_subqs.owl MONDO:0019011 biolink:NamedThing Charcot-Marie-Tooth disease type 1 Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity. phenio_relaxed_subqs.owl MONDO:0033135 biolink:NamedThing Charcot-Marie-Tooth disease, demyelinating, type 1G A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs. phenio_relaxed_subqs.owl ORPHA:140453 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN228927 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011468 biolink:NamedThing hereditary motor and sensory neuropathy, Okinawa type Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic. phenio_relaxed_subqs.owl ORPHA:140456 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN228928 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0008960 biolink:NamedThing Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease. phenio_relaxed_subqs.owl ORPHA:140459 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN228930 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111198 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0015352 biolink:NamedThing distal hereditary motor neuropathy type 2 phenio_relaxed_subqs.owl MONDO:0018773 biolink:NamedThing autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome phenio_relaxed_subqs.owl ORPHA:140465 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN228931 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0111197 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0011585 biolink:NamedThing autosomal recessive distal spinal muscular atrophy 2 Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset). phenio_relaxed_subqs.owl MONDO:0044651 biolink:NamedThing early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome phenio_relaxed_subqs.owl ORPHA:140468 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN228932 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:140474 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN228933 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0012092 biolink:NamedThing hereditary sensory and autonomic neuropathy type 5 Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies. phenio_relaxed_subqs.owl MONDO:0018682 biolink:NamedThing congenital insensitivity to pain with severe intellectual disability phenio_relaxed_subqs.owl ORPHA:140477 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN229031 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:208508 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN229100 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0007422 biolink:NamedThing keratoderma hereditarium mutilans phenio_relaxed_subqs.owl MONDO:0031421 biolink:NamedThing Olmsted syndrome phenio_relaxed_subqs.owl ORPHA:307773 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN229116 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060773 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0080400 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0000375 biolink:NamedThing phenio_relaxed_subqs.owl OBO:GARD_0001045 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C122656 biolink:NamedThing phenio_relaxed_subqs.owl OMIM:225060 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_716248001 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:320317 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:3253 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN229225 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:94149 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN229268 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0010849 biolink:NamedThing palmoplantar keratoderma, Bothnian type phenio_relaxed_subqs.owl MONDO:0010962 biolink:NamedThing diffuse nonepidermolytic palmoplantar keratoderma A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis. phenio_relaxed_subqs.owl ORPHA:98349 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN229269 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009489 biolink:NamedThing hereditary palmoplantar keratoderma, Gamborg-Nielsen type Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive. phenio_relaxed_subqs.owl ORPHA:98356 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN229293 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0009786 biolink:NamedThing optic atrophy 6 phenio_relaxed_subqs.owl MONDO:0020737 biolink:NamedThing optic atrophy 10 with or without ataxia, intellectual disability, and seizures phenio_relaxed_subqs.owl ORPHA:98676 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN229296 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0050966 biolink:NamedThing phenio_relaxed_subqs.owl NCIT:C150250 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:98770 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN230268 biolink:NamedThing phenio_relaxed_subqs.owl DOID:0060228 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0032891 biolink:NamedThing aneurysm, intracranial berry, 12 phenio_relaxed_subqs.owl OBO:OMIMPS_105800 biolink:NamedThing phenio_relaxed_subqs.owl OBO:SCTID_703226008 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:231160 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN230278 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018007 biolink:NamedThing mosaic genome-wide paternal uniparental disomy phenio_relaxed_subqs.owl ORPHA:329813 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN231410 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0018637 biolink:NamedThing familial chylomicronemia syndrome phenio_relaxed_subqs.owl DOID:0111417 biolink:NamedThing phenio_relaxed_subqs.owl ORPHA:444490 biolink:NamedThing phenio_relaxed_subqs.owl UMLS:CN231446 biolink:NamedThing phenio_relaxed_subqs.owl MONDO:0014645 biolink:NamedThing BENTA disease BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N